Click here for a full list of deCODE’s publications on decode.com

deCODE ProstateCancer™

References

1. Gudmundsson, Julius et al. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet. 2008 Mar;40(3):281-3. Epub 2008 Feb 10. PMID: 18264098

2. Liu H et al. Meta-analysis of genome-wide and replication association studies on prostate cancer. Prostate. 2010 Aug 5. PMID: 20690139

3. Eeles, Rosalind A et al. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet. 2009 Oct;41(10):1116-21. Epub 2009 Sep 20. PMID: 19767753

4. Gudmundsson, Julius et al. Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet. 2009 Oct;41(10):1122-6. Epub 2009 Sep 20. PMID: 19767754

5. Kote-Jarai, Zsofia et al. Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium. Cancer Epidemiol Biomarkers Prev. 2008 Aug;17(8):2052-61. PMID: 18708398

6. Waters, Kevin M et al. Generalizability of associations from prostate cancer genome-wide association studies in multiple populations. Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1285-9. Epub 2009 Mar 24. PMID: 19318432

7. Rafnar, Thorunn et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009 Feb;41(2):221-7. Epub 2009 Jan 18. PMID: 19151717

8. Thomas, Gilles et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet. 2008 Mar;40(3):310-5. Epub 2008 Feb 10. PMID: 18264096

9. Prokunina-Olsson, Ludmila et al. Refining the prostate cancer genetic association within the JAZF1 gene on chromosome 7p15.2. Cancer Epidemiol Biomarkers Prev. 2010 May;19(5):1349-55. Epub 2010 Apr 20. PMID: 20406958

10. Stevens, Victoria L et al. HNF1B and JAZF1 genes, diabetes, and prostate cancer risk. Prostate. 2010 May 1;70(6):601-7. PMID: 19998368

11. Gudmundsson, Julius et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet. 2007 May;39(5):631-7. Epub 2007 Apr 1. PMID: 17401366

12. Amundadottir, Laufey T et al. A common variant associated with prostate cancer in European and African populations. Nat Genet. 2006 Jun;38(6):652-8. Epub 2006 May 7. PMID: 16682969

13. Freedman, Matthew L et al. Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14068-73. Epub 2006 Aug 31. PMID: 16945910

14. Haiman, Christopher A et al. Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet. 2007 May;39(5):638-44. Epub 2007 Apr 1. PMID: 17401364

15. Yeager, Meredith et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet. 2007 May;39(5):645-9. Epub 2007 Apr 1. PMID: 17401363

16. Schumacher, Fredrick R et al. A common 8q24 variant in prostate and breast cancer from a large nested case-control study. Cancer Res. 2007 Apr 1;67(7):2951-6. PMID: 17409400

17. Severi, Gianluca et al. The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study. Cancer Epidemiol Biomarkers Prev. 2007 Mar;16(3):610-2. PMID: 17372260

18. Suuriniemi, Miia et al. Confirmation of a positive association between prostate cancer risk and a locus at chromosome 8q24. Cancer Epidemiol Biomarkers Prev. 2007 Apr;16(4):809-14. PMID: 17416775

19. Wang, Liang et al. Two common chromosome 8q24 variants are associated with increased risk for prostate cancer. Cancer Res. 2007 Apr 1;67(7):2944-50. PMID: 17409399

20. Zheng, S Lilly et al. Association between two unlinked loci at 8q24 and prostate cancer risk among European Americans. J Natl Cancer Inst. 2007 Oct 17;99(20):1525-33. Epub 2007 Oct 9. PMID: 17925536

21. Yeager, Meredith et al. Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet. 2009 Oct;41(10):1055-7. Epub 2009 Sep 20. PMID: 19767755

22. Beuten, Joke et al. Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men. Carcinogenesis. 2009 Aug;30(8):1372-9. Epub 2009 Jun 15. PMID: 19528667

23. Wokolorczyk, Dominika et al. A range of cancers is associated with the rs6983267 marker on chromosome 8. Cancer Res. 2008 Dec 1;68(23):9982-6. PMID: 19047180

24. Tan, Ying-Cai et al. Common 8q24 sequence variations are associated with Asian Indian advanced prostate cancer risk. Cancer Epidemiol Biomarkers Prev. 2008 Sep;17(9):2431-5. PMID: 18768513

25. Cussenot, Olivier et al. Effect of genetic variability within 8q24 on aggressiveness patterns at diagnosis and familial status of prostate cancer. Clin Cancer Res. 2008 Sep 1;14(17):5635-9. PMID: 18765558

26. Terada, Naoki et al. Association of genetic polymorphisms at 8q24 with the risk of prostate cancer in a Japanese population. Prostate. 2008 Nov 1;68(15):1689-95. PMID: 18726982

27. Beebe-Dimmer, Jennifer L et al. Chromosome 8q24 markers: risk of early-onset and familial prostate cancer. Int J Cancer. 2008 Jun 15;122(12):2876-9. PMID: 18360876

28. Cheng, Iona et al. 8q24 and prostate cancer: association with advanced disease and meta-analysis. Eur J Hum Genet. 2008 Apr;16(4):496-505. Epub 2008 Jan 30. PMID: 18231127

29. Al Olama, Ali Amin et al. Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet. 2009 Oct;41(10):1058-60. Epub 2009 Sep 20. PMID: 19767752

30. Xu, Jianfeng et al. Prostate cancer risk associated loci in African Americans. Cancer Epidemiol Biomarkers Prev. 2009 Jul;18(7):2145-9. Epub 2009 Jun 23. PMID: 19549807

31. Wang Y et al. Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: The flint men’s health study. Prostate. 2010 Aug 17. PMID: 20717903

32. Benford, Marnita L et al. 8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study. BMC Cancer. 2010 Jun 28;10:334. PMID: 20584312

33. Kim ST et al. Prostate cancer risk-associated variants reported from genome-wide association studies: Meta-analysis and their contribution to genetic Variation. Prostate. 2010 Jun 16. PMID: 20564319

34. Chen, Marcelo et al. Common variants at 8q24 are associated with prostate cancer risk in Taiwanese men. Prostate. 2010 Apr 1;70(5):502-7. PMID: 19908238

35. Sun, Jielin et al. Chromosome 8q24 risk variants in hereditary and non-hereditary prostate cancer patients. Prostate. 2008 Apr 1;68(5):489-97. PMID: 18213635

36. Robbins, Christiane et al. Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus. Genome Res. 2007 Dec;17(12):1717-22. Epub 2007 Oct 31. PMID: 17978284

37. Yamada, Hiroki et al. Replication of prostate cancer risk loci in a Japanese case-control association study. J Natl Cancer Inst. 2009 Oct 7;101(19):1330-6. Epub 2009 Sep 2. PMID: 19726753

38. Xu, Bin et al. A functional polymorphism in MSMB gene promoter is associated with prostate cancer risk and serum MSMB expression. Prostate. 2010 Jul 1;70(10):1146-52. PMID: 20333697

39. Lou, Hong et al. Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility. Proc Natl Acad Sci U S A. 2009 May 12;106(19):7933-8. Epub 2009 Apr 21. PMID: 19383797

40. Fitzgerald, Liesel M et al. Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features. Clin Cancer Res. 2009 May 1;15(9):3231-7. Epub 2009 Apr 14. PMID: 19366831

41. Camp, Nicola J et al. Replication of the 10q11 and Xp11 prostate cancer risk variants: results from a Utah pedigree-based study. Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1290-4. Epub 2009 Mar 31. PMID: 19336566

42. Chang, Bao-Li et al. Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk. Hum Mol Genet. 2009 Apr 1;18(7):1368-75. Epub 2009 Jan 19. PMID: 19153072

43. Hooker, Stanley et al. Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African Americans. Prostate. 2010 Feb 15;70(3):270-5. PMID: 19902474

44. Gudmundsson, Julius et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet. 2007 Aug;39(8):977-83. Epub 2007 Jul 1. PMID: 17603485

45. Helfand, Brian T et al. Pathological outcomes associated with the 17q prostate cancer risk variants. J Urol. 2009 Jun;181(6):2502-7. Epub 2009 Apr 16. PMID: 19371897

46. Elliott, Katherine S et al. Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLoS One. 2010 May 28;5(5):e10858. PMID: 20526366

47. Sun, Jielin et al. Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12. Nat Genet. 2008 Oct;40(10):1153-5. Epub 2008 Aug 31. PMID: 18758462

48. Lu, Lingyi et al. Fine-mapping and family-based association analyses of prostate cancer risk variants at Xp11. Cancer Epidemiol Biomarkers Prev. 2009 Jul;18(7):2132-6. Epub 2009 Jun 23. PMID: 19549809

49. Johns LE, and Houlston RS. BJU Int 2003;91:789-94.

50. SEER web site (http://seer.cancer.gov/statfacts/html/prost.html)

51. Schroder, F.H., Hugosson, J., Roobol, M.J., et al. Screening and prostate-cancer mortality in a randomized European study. N Engl J Med, 360: 11320-8, 2009

52. Andriole, G.L., Grubb, R.L., Buys, S.S., et al. Mortality results from a randomized prostatecancer screening trial. N Engl J Med, 360: 1310-19, 2009

deCODE BreastCancer™

References

1. Thomas, Gilles et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009 May;41(5):579-84. Epub 2009 Mar 29. PMID: 19330030

2. Stacey, Simon N et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007 Jul;39(7):865-9. Epub 2007 May 27. PMID: 17529974

3. Zheng, Wei et al. Evaluation of 11 breast cancer susceptibility loci in African-American women. Cancer Epidemiol Biomarkers Prev. 2009 Oct;18(10):2761-4. Epub 2009 Sep 29. PMID: 19789366

4. Reeves, Gillian K et al. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA. 2010 Jul 28;304(4):426-34. PMID: 20664043

5. Milne, Roger L et al. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst. 2009 Jul 15;101(14):1012-8. Epub 2009 Jun 30. PMID: 19567422

6. Cox, Angela et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet. 2007 Mar;39(3):352-8. Epub 2007 Feb 11. PMID: 17293864

7. Sergentanis, Theodoros N, Economopoulos, Konstantinos P. Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010 Feb;120(1):229-34. Epub 2009 Jul 24. PMID: 19629679

8. Ahmed, Shahana et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet. 2009 May;41(5):585-90. Epub 2009 Mar 29. PMID: 19330027

9. Long, Jirong et al. Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev. 2010 Sep;19(9):2357-65. Epub 2010 Aug 10. PMID: 20699374

10. Easton, Douglas F et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007 Jun 28;447(7148):1087-93. PMID: 17529967

11. Zheng, Wei et al. Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. J Natl Cancer Inst. 2010 Jul 7;102(13):972-81. Epub 2010 May 18. PMID: 20484103

12. Antoniou, Antonis C et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008 Apr;82(4):937-48. Epub 2008 Mar 20. PMID: 18355772

13. Travis, Ruth C et al. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet. 2010 Jun 19;375(9732):2143-51. Epub 2010 Jun 3. PMID: 20605201

14. Stacey, Simon N et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2008 Jun;40(6):703-6. Epub 2008 Apr 27. PMID: 18438407

15. Ruiz-Narvaez, Edward A et al. Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women’s Health Study. Breast Cancer Res Treat. 2010 Sep;123(2):525-30. Epub 2010 Feb 7. PMID: 20140701

16. Garcia-Closas, Montserrat et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet. 2008 Apr 25;4(4):e1000054. PMID: 18437204

17. Fletcher, Olivia et al. Association of genetic variants at 8q24 with breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2008 Mar;17(3):702-5. PMID: 18349290

18. Mcinerney, Niall et al. Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat. 2009 Sep;117(1):151-9. Epub 2008 Nov 13. PMID: 19005751

19. Hunter, David J et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007 Jul;39(7):870-4. Epub 2007 May 27. PMID: 17529973

20. Zheng, Wei et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet. 2009 Mar;41(3):324-8. Epub 2009 Feb 15. PMID: 19219042

21. Rebbeck, Timothy R et al. Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. Carcinogenesis. 2009 Feb;30(2):269-74. Epub 2008 Nov 20. PMID: 19028704

22. Zhang J et al. Current evidence on the relationship between three polymorphisms in the FGFR2 gene and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010 Mar 19. PMID: 20300826

23. Jia C et al. Quantitative assessment of the effect of FGFR2 gene polymorphism on the risk of breast cancer. Breast Cancer Res Treat. 2010 Apr 4. PMID: 20364400

24. Boyarskikh, Uljana A et al. Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia. Eur J Hum Genet. 2009 Dec;17(12):1688-91. Epub 2009 Jun 17. PMID: 19536173

25. Antoniou, Antonis C et al. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. Epub 2009 Aug 5. PMID: 19656774

26. Chen MB et al. Association between polymorphisms of trinucleotide repeat containing 9 gene and breast cancer risk: evidence from 62,005 subjects. Breast Cancer Res Treat. 2010 Aug 12. PMID: 20703937

27. Stacey, Simon N et al. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet. 2010 Jul 22;6(7):e1001029. PMID: 20661439

28. Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH (1994). Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 86: 1600–1608.

29. Montserrat Garcia-Closas et al. Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics. PLoS Genet. 2008 Apr 25;4(4):e1000054.

30. Gillian K. Reeves; Ruth C. Travis; Jane Green; et al. Incidence of Breast Cancer and Its Subtypes in Relation to Individual and Multiple Low-Penetrance Genetic Susceptibility Loci JAMA. 2010;304(4):426-434

31. Wacholder et al. Performance of Common Genetic Variants in Breast-Cancer Risk Models. N Engl J Med 2010;362:986-93.

32. Matthew E. Mealiffe ME et al. Clinical Validity Assessment of a Breast Cancer Risk Model

Combining Genetic and Clinical Information. http://precedings.nature.com/documents/4295/version/1

33. McGuigan KA, Ganz PA, Breant C. Agreement between breast cancer risk estimation methods. J Natl Cancer Inst. 1996 Sep 18;88(18):1315-7.

34. McTiernan A et al. Comparisons of two breast cancer risk estimates in women with a family history of breast cancer. Cancer Epidemiol Biomarkers Prev. 2001 Apr;10(4):333-8.

35. Claus EB,Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991 Feb;48(2):232-42.

36. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998 Jan;62(1):145-58. et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 2006;8(1):R12.

37. Mann et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 2006;8(1):R12.

38. Antoniou AC et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008 Apr 22;98(8):1457-66.

39. Evans DG, Howell A. Breast cancer risk-assessment models. Breast Cancer Res. 2007;9(5):213.

40. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994 Feb 1;73(3):643-51.

41. Antoniou et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. Epub 2003 Apr 3.

42. Evans DG, Lalloo F. Risk assessment and management of high risk familial breast cancer. J Med Genet. 2002 Dec;39(12):865-71.

deCODE AF™

References

1. Hart, R.G., et al. Antithrombotic therapy to prevent stroke in patients with atrial fibrillation: a meta-analysis.Ann Intern Med, 1999. 131: p. 492-501.

2. Fuster V. et al. ACC/ AHA/ ESC 2006 Guidelines for the management of patients in atrial fibrillation. Circulation 2006. 114:257-354.

3. Ellinor, Patrick T et al. Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet. 2010 Mar;42(3):240-4. Epub 2010 Feb 21. PMID: 20173747

4. Gudbjartsson, Daniel F et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature. 2007 Jul 19;448(7151):353-7. Epub 2007 Jul 1. PMID: 17603472

5. Viviani Anselmi, C et al. Association of rs2200733 at 4q25 with atrial flutter/fibrillation diseases in an Italian population. Heart. 2008 Nov;94(11):1394-6. PMID: 18931155

6. Kaab, Stefan et al. Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation. Eur Heart J. 2009 Apr;30(7):813-9. Epub 2009 Jan 13. PMID: 19141561

7. Shi L et al. Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population. Hum Genet. 2009 Aug 26. PMID: 19707791

8. Body, Simon C et al. Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery. Circ Cardiovasc Genet. 2009 Oct;2(5):499-506. Epub 2009 Aug 2. PMID: 20031626

9. Holm, Hilma et al. Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet. 2010 Feb;42(2):117-22. Epub 2010 Jan 10. PMID: 20062063

10. Pfeufer, Arne et al. Genome-wide association study of PR interval. Nat Genet. 2010 Feb;42(2):153-9. Epub 2010 Jan 10. PMID: 20062060

11. Gudbjartsson, Daniel F et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet. 2009 Aug;41(8):876-8. Epub 2009 Jul 13. PMID: 19597491

12. Benjamin, Emelia J et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet. 2009 Aug;41(8):879-81. Epub 2009 Jul 13. PMID: 19597492

13. Lee, Kun-Tai et al. Association of RS2200733 but not RS10033464 on 4q25 with atrial fibrillation based on the recessive model in a taiwanese population. Cardiology. 2010;116(3):151-6. Epub 2010 Jul 7. PMID: 20606429

14. Jabaudon, D., et al., Usefulness of ambulatory 7-day ECG monitoring for the detection of atrial fibrillation and flutter after acute stroke and transient ischemic attack. Stroke, 2004. 35(7): p. 1647-51.

15. Barthelemy, J.C., et al., Automatic cardiac event recorders reveal paroxysmal atrial fibrillation after unexplained strokes or transient ischemic attacks. Ann Noninvasive Electrocardiol, 2003. 8(3): p. 194-9.

16. Kannel, W B et al. Prevalence, incidence, prognosis, and predisposing conditions for atrial fibrillation: population-based estimates. Am J Cardiol. 1998 Oct 16;82(8A):2N-9N. PMID: 9809895

17. Zhou, Zi-qiang et al. [An epidemiological survey of atrial fibrillation in China] Zhonghua Nei Ke Za Zhi. 2004 Jul;43(7):491-4. PMID: 15312400

deCODE Glaucoma™

References

1. Thorleifsson, Gudmar et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007 Sep 7;317(5843):1397-400. Epub 2007 Aug 9. PMID: 17690259

2. Fingert, John H et al. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol. 2007 Dec;144(6):974-975. PMID: 18036875

3. Hewitt, Alex W et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet. 2008 Mar 1;17(5):710-6. Epub 2007 Nov 23. PMID: 18037624

4. Mossbock, Georg et al. Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Mol Vis. 2008 May 9;14:857-61. PMID: 18483563

5. Fan, Bao Jian et al. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 2008 Feb 6;9:5. PMID: 18254956

6. Fuse, Nobuo et al. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol Vis. 2008 Jul 21;14:1338-43. PMID: 18648524

7. Lee, Kelvin Y C et al. Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. Mol Vis. 2009 Jun 4;15:1120-6. PMID: 19503743

8. Ozaki, Mineo et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3976-80. Epub 2008 Apr 30. PMID: 18450598

9. Chen, Ling et al. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. Mol Vis. 2009 Nov 14;15:2349-57. PMID: 19936304

10. Hayashi, Hisako et al. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am J Ophthalmol. 2008 Mar;145(3):582-585. Epub 2008 Jan 16. PMID: 18201684

11. Aragon-Martin, Jose A et al. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. Mol Vis. 2008 Mar 17;14:533-41. PMID: 18385788

12. Yang, Xian et al. Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort. Cell Cycle. 2008 Feb 15;7(4):521-4. PMID: 18287813

13. Challa, Pratap et al. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis. 2008 Jan 29;14:146-9. PMID: 18334928

14. Ramprasad, Vedam Lakshmi et al. Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India. Mol Vis. 2008 Feb 9;14:318-22. PMID: 18334947

15. Pasutto, Francesca et al. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1459-63. PMID: 18385063

16. Williams, Susan E I et al. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis. 2010 Apr 21;16:705-12. PMID: 20431720

17. Chen, Haoyu et al. Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. Mol Vis. 2010 Feb 6;16:167-77. PMID: 20142848

18. Wolf, Christiane et al. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. J Glaucoma. 2010 Feb;19(2):136-41. PMID: 19373106

19. Lemmela, Susanna et al. Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet. 2009 May;54(5):289-97. Epub 2009 Apr 3. PMID: 19343041

20. Tanito, Masaki et al. LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. Mol Vis. 2008;14:1898-905. Epub 2008 Oct 27. PMID: 18958304

21. Mabuchi, Fumihiko et al. Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. Mol Vis. 2008 Jul 14;14:1303-8. PMID: 18636115

22. Mori, Kazuhiko et al. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol Vis. 2008 Jun 5;14:1037-40. PMID: 18552979

23. Arnarsson, Arsaell Mar. Epidemiology of exfoliation syndrome in the Reykjavik Eye Study. Acta Ophthalmol. 2009 Dec;87 Thesis 3:1-17. PMID: 20017735

24. Arnarsson, A.M. et al. Pseudoexfoliation in the reykjavik eye study: five-year incidence and changes in related ophthalmologic variables. Am J Ophthalmol, 2009 Aug;148(2):291-7. Epub 2009 May 9.

25. Jeng, S.M. et al. The risk of glaucoma in pseudoexfoliation syndrome. J Glaucoma, 2007 Jan;16(1):117-21.

deCODE T2™

References

1. Narayan KM et al., Lifetime risk for diabetes mellitus in the United States. JAMA. 2003 Oct 8;290:1884-90.

2. Pearson, E.R., et al., Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes, 2007. 56(8): p. 2178-82.

3. Pearson ER, D.L., Doney A, , Variation in TCF7L2 influences glycemic response to sulfonylureas. American Diabetes Association 67th Scientific Sessions, 2007.1.

4. Florez, et. al., “TCF7L2 Polymorphisms and Progression to Diabetes in the Diabetes Prevention Program”

(U.S., multiple ethnicities). N Engl J Med 2006; 355:241-250

5. Wang, J., et al., Variants of transcription factor 7-like 2 (TCF7L2) gene predict conversion to type 2 diabetes in the Finnish Diabetes Prevention Study and are associated with impaired glucose regulation and impaired insulin secretion. Diabetologia, 2007; 50(6):1192-1200.

6. Diabetes Prevention Program Research Group. Reduction in the Incidence of Type 2 Diabetes with Lifestyle Intervention or Metformin. N Engl J Med 2002; 346:393-403

7. Zeggini, Eleftheria et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008 May;40(5):638-45. Epub 2008 Mar 30. PMID: 18372903

8. Voight, Benjamin F et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010 Jul;42(7):579-89. PMID: 20581827

9. Dupuis, Josee et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 Feb;42(2):105-16. Epub 2010 Jan 17. PMID: 20081858

10. Bi, Mark et al. Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study. PLoS One. 2010 Jul 22;5(7):e11690. PMID: 20661421

11. Onuma, Hiroshi et al. The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population. J Hum Genet. 2010 Sep;55(9):600-4. Epub 2010 Jun 24. PMID: 20574426

12. Qi, Q et al. Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population. Diabetologia. 2009 May;52(5):834-43. Epub 2009 Feb 25. PMID: 19241058

13. Sparso, T et al. The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Diabetologia. 2008 Jan;51(1):70-5. Epub 2007 Nov 16. PMID: 18008060

14. Saxena, Richa et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet. 2010 Feb;42(2):142-8. Epub 2010 Jan 17. PMID: 20081857

15. Weedon, M N. The importance of TCF7L2. Diabet Med. 2007 Oct;24(10):1062-6. PMID: 17888129

16. Saxena, Richa et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007 Jun 1;316(5829):1331-6. Epub 2007 Apr 26. PMID: 17463246

17. Zeggini, Eleftheria et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007 Jun 1;316(5829):1336-41. Epub 2007 Apr 26. PMID: 17463249

18. Scott, Laura J et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007 Jun 1;316(5829):1341-5. Epub 2007 Apr 26. PMID: 17463248

19. Omori, Shintaro et al. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes. 2008 Mar;57(3):791-5. Epub 2007 Dec 27. PMID: 18162508

20. Ng, Maggie C Y et al. Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. Diabetes. 2008 Aug;57(8):2226-33. Epub 2008 May 9. PMID: 18469204

21. Chauhan, Ganesh et al. Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians. Diabetes. 2010 Aug;59(8):2068-74. Epub 2010 Apr 27. PMID: 20424228

22. Han, Xueyao et al. Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population. BMC Med Genet. 2010 May 28;11:81. PMID: 20509872

23. Tabara, Yasuharu et al. Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening. Diabetes. 2009 Feb;58(2):493-8. Epub 2008 Nov 25. PMID: 19033397

24. Wu, Ying et al. Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Diabetes. 2008 Oct;57(10):2834-42. Epub 2008 Jul 15. PMID: 18633108

25. Horikawa, Yukio et al. Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan. J Clin Endocrinol Metab. 2008 Aug;93(8):3136-41. Epub 2008 May 13. PMID: 18477659

26. Huang, Qiong et al. IGF2BP2 variations influence repaglinide response and risk of type 2 diabetes in Chinese population. Acta Pharmacol Sin. 2010 Jun;31(6):709-17. PMID: 20523342

27. Ruchat, Stephanie-May et al. Combining genetic markers and clinical risk factors improves the risk assessment of impaired glucose metabolism. Ann Med. 2010 Apr;42(3):196-206. PMID: 20384434

28. van Hoek, Mandy et al. Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism. Diabetes. 2009 Jun;58(6):1440-4. Epub 2009 Mar 3. PMID: 19258437

29. Altshuler, D et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000 Sep;26(1):76-80. PMID: 10973253

30. Sanghera, Dharambir Kaur et al. PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor. Metabolism. 2010 Apr;59(4):492-501. Epub 2009 Oct 20. PMID: 19846176

31. Kilpelainen, Tuomas O et al. SNPs in PPARG associate with type 2 diabetes and interact with physical activity. Med Sci Sports Exerc. 2008 Jan;40(1):25-33. PMID: 18091023

32. Sandhu, Manjinder S et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007 Aug;39(8):951-3. Epub 2007 Jul 1. PMID: 17603484

33. Fawcett, Katherine A et al. Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes. 2010 Mar;59(3):741-6. Epub 2009 Dec 22. PMID: 20028947

34. Steinthorsdottir, Valgerdur et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007 Jun;39(6):770-5. Epub 2007 Apr 26. PMID: 17460697

35. Cauchi, Stephane et al. Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value. PLoS One. 2008 May 7;3(5):e2031. PMID: 18461161

36. Horikoshi, M et al. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. Diabetologia. 2007 Dec;50(12):2461-6. Epub 2007 Oct 10. PMID: 17928989

37. Chidambaram M et al. Replication of recently described type 2 diabetes gene variants in a South Indian population. Metabolism. 2010 Jun 24. PMID: 20580033

38. Dehwah, M A S et al. CDKAL1 and type 2 diabetes: a global meta-analysis. Genet Mol Res. 2010 Jun 15;9(2):1109-20. PMID: 20568056

39. An, Ping et al. Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study. BMC Proc. 2009 Dec 15;3 Suppl 7:S71. PMID: 20018066

40. Omori, S et al. Replication study for the association of new meta-analysis-derived risk loci with susceptibility to type 2 diabetes in 6,244 Japanese individuals. Diabetologia. 2009 Aug;52(8):1554-60. Epub 2009 May 20. PMID: 19455301

41. Sladek, Robert et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007 Feb 22;445(7130):881-5. Epub 2007 Feb 11. PMID: 17293876

42. Lin, Ying et al. Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population. BMC Med Genet. 2010 Jun 15;11:97. PMID: 20550665

43. Lee, Yong-Ho et al. Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population. J Hum Genet. 2008;53(11-12):991-8. Epub 2008 Nov 11. PMID: 18991055

44. Jing YL et al. SLC30A8 polymorphism and type 2 diabetes risk: Evidence from 27 study groups. Nutr Metab Cardiovasc Dis. 2010 Feb 16. PMID: 20167458

45. Cauchi, Stephane et al. Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets. Mol Genet Metab. 2010 May;100(1):77-82. Epub 2010 Jan 15. PMID: 20138556

46. Xiang, Jie et al. Zinc transporter-8 gene (SLC30A8) is associated with type 2 diabetes in Chinese. J Clin Endocrinol Metab. 2008 Oct;93(10):4107-12. Epub 2008 Jul 15. PMID: 18628523

47. Grarup, Niels et al. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Diabetes. 2007 Dec;56(12):3105-11. Epub 2007 Sep 7. PMID: 17827400

48. Wen, Jie et al. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. PLoS One. 2010 Feb 10;5(2):e9153. PMID: 20161779

49. Gori, Francesca et al. Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population. BMC Med Genet. 2010 Apr 19;11:60. PMID: 20403154

50. Hertel, J K et al. Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Diabetologia. 2008 Jun;51(6):971-7. Epub 2008 Apr 24. PMID: 18437351

51. Duesing, K et al. Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French Europids. Diabetologia. 2008 May;51(5):821-6. Epub 2008 Mar 27. PMID: 18368387

52. Grant, Struan F A et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. 2006 Mar;38(3):320-3. Epub 2006 Jan 15. PMID: 16415884

53. Helgason, Agnar et al. Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution. Nat Genet. 2007 Feb;39(2):218-25. Epub 2007 Jan 7. PMID: 17206141

54. Horikoshi, M et al. A genetic variation of the transcription factor 7-like 2 gene is associated with risk of type 2 diabetes in the Japanese population. Diabetologia. 2007 Apr;50(4):747-51. Epub 2007 Jan 24. PMID: 17245589

55. Florez, Jose C. The new type 2 diabetes gene TCF7L2. Curr Opin Clin Nutr Metab Care. 2007 Jul;10(4):391-6. PMID: 17563454

56. Sale, Michele M et al. Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes. 2007 Oct;56(10):2638-42. Epub 2007 Jun 29. PMID: 17601994

57. Parra, E J et al. Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City. Clin Genet. 2007 Apr;71(4):359-66. PMID: 17470138

58. Miyake, Kazuaki et al. Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects. J Hum Genet. 2008;53(2):174-80. Epub 2007 Dec 21. PMID: 18097733

59. Gupta, Vipin et al. A validation study of type 2 diabetes-related variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ genes in one endogamous ethnic group of north India. Ann Hum Genet. 2010 Jul;74(4):361-8. PMID: 20597906

60. Furukawa, Yasushi et al. Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese population. J Clin Endocrinol Metab. 2008 Jan;93(1):310-4. Epub 2007 Oct 30. PMID: 17971426

61. Wang, Fang et al. Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population. Chin Med J (Engl). 2009 Oct 20;122(20):2477-82. PMID: 20079163

62. Yasuda, Kazuki et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet. 2008 Sep;40(9):1092-7. PMID: 18711367

63. Zhou, Jian-Bo et al. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. Med Sci Monit. 2010 Jun;16(6):BR179-83. PMID: 20512086

64. Shin, Hyoung Doo et al. Association of KCNQ1 polymorphisms with the gestational diabetes mellitus in Korean women. J Clin Endocrinol Metab. 2010 Jan;95(1):445-9. Epub 2009 Oct 22. PMID: 19850681

65. Qi, Qibin et al. Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Hum Mol Genet. 2009 Sep 15;18(18):3508-15. Epub 2009 Jun 25. PMID: 19556355

66. Liu, Y et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China. Diabetologia. 2009 Jul;52(7):1315-21. Epub 2009 May 12. PMID: 19448982

67. Hu, C et al. Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population. Diabetologia. 2009 Jul;52(7):1322-5. Epub 2009 Mar 24. PMID: 19308350

68. Tan, Jonathan T et al. Genetic variation in KCNQ1 associates with fasting glucose and beta-cell function: a study of 3,734 subjects comprising three ethnicities living in Singapore. Diabetes. 2009 Jun;58(6):1445-9. Epub 2009 Feb 27. PMID: 19252135

69. Prokopenko, Inga et al. Variants in MTNR1B influence fasting glucose levels. Nat Genet. 2009 Jan;41(1):77-81. Epub 2008 Dec 7. PMID: 19060907

70. Ronn, T et al. A common variant in MTNR1B, encoding melatonin receptor 1B, is associated with type 2 diabetes and fasting plasma glucose in Han Chinese individuals. Diabetologia. 2009 May;52(5):830-3. Epub 2009 Feb 25. PMID: 19241057

71. Kan, M Y et al. Two susceptible diabetogenic variants near/in MTNR1B are associated with fasting plasma glucose in a Han Chinese cohort. Diabet Med. 2010 May;27(5):598-602. PMID: 20536959

72. Sparso, Thomas et al. G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans. Diabetes. 2009 Jun;58(6):1450-6. Epub 2009 Mar 26. PMID: 19324940

73. Gudmundsson, Julius et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet. 2007 Aug;39(8):977-83. Epub 2007 Jul 1. PMID: 17603485

74. Wang, Congrong et al. Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population. Diabetes. 2009 Apr;58(4):1023-7. Epub 2009 Jan 23. PMID: 19168595

75. Stevens, Victoria L et al. HNF1B and JAZF1 genes, diabetes, and prostate cancer risk. Prostate. 2010 May 1;70(6):601-7. PMID: 19998368

76. Tuomilehto, J., et al., Prevention of type 2 diabetes mellitus by changes in lifestyle among patients with impaired glucose tolerance. N Engl J Med, 2001. 344: 1343-50.

77. The Diabetes Prevention Program (DPP): description of lifestyle intervention. Diabetes Care, 2002. 25: 2165-71.

78. Crandall, J., et al., The influence of age on the effects of lifestyle modification and metformin in prevention of diabetes. J Gerontol A Biol Sci Med Sci, 2006. 61(10): p. 1075-81.

deCODE MI™

References

1. Brautbar A, Ballantyne CM et al. Impact of adding a single allele in the 9p21 locus to traditional risk factors on reclassification of coronary heart disease risk and implications for lipid-modifying therapy in the Atherosclerosis Risk in Communities study. Circ Cardiovasc Genet. 2009 Jun;2(3):279-85. Epub 2009 Apr 21.

2. Talmud et al. Chromosome 9p21.3 coronary heart disease locus genotype and prospective risk of CHD in healthy middle-aged men. Clin Chem. 2008;54:453-5

3. Paynter NP et al.Cardiovascular Disease Risk Prediction with and without Knowledge of Genetic Variation at Chromosome 9p21.3: The Women’s Genome Health Study. Ann Intern Med. 2009 January 20; 150(2): 65–72.

4. Gulcher J, Stefansson K. Ann Intern Med. 2009 May 19;150(10):736; author reply 737. Questions about genetic variation in 9p21 as a predictor of cardiovascular risk.

5. Helgadottir, Anna et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007 Jun 8;316(5830):1491-3. Epub 2007 May 3. PMID: 17478679.

6. Shen, Gong-Qing et al. Four SNPs on chromosome 9p21 in a South Korean population implicate a genetic locus that confers high cross-race risk for development of coronary artery disease. Arterioscler Thromb Vasc Biol. 2008 Feb;28(2):360-5. Epub 2007 Nov 29. PMID: 18048766.

7. Shen, Gong-Qing et al. Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population. J Hum Genet. 2008;53(2):144-50. Epub 2007 Dec 8. PMID: 18066490.

8. Abdullah, K G et al. Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest). Ann Hum Genet. 2008 Sep;72(Pt 5):654-7. Epub 2008 May 26. PMID: 18505420.

9. Lemmens, Robin et al. Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke. Eur J Hum Genet. 2009 Oct;17(10):1287-93. Epub 2009 Mar 25. PMID: 19319159.

10. Ding, Hu et al. 9p21 is a shared susceptibility locus strongly for coronary artery disease and weakly for ischemic stroke in Chinese Han population. Circ Cardiovasc Genet. 2009 Aug;2(4):338-46. Epub 2009 May 28. PMID: 20031605.

11. Chen, Zhong et al. A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease. Mol Biol Rep. 2009 May;36(5):889-93. Epub 2008 May 6. PMID: 18459066

12. Maitra, Arindam et al. A common variant in chromosome 9p21 associated with coronary artery disease in Asian Indians. J Genet. 2009 Apr;88(1):113-8. PMID: 19417554

13. Gudbjartsson, Daniel F et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet. 2009 Mar;41(3):342-7. Epub 2009 Feb 8. PMID: 19198610

14. Erdmann, Jeanette et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet. 2009 Mar;41(3):280-2. Epub 2009 Feb 8. PMID: 19198612.

15. Kathiresan, Sekar et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009 Mar;41(3):334-41. Epub 2009 Feb 8. PMID: 19198609.

16. Samani, Nilesh J et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007 Aug 2;357(5):443-53. Epub 2007 Jul 18. PMID: 17634449.

17. Erdmann, Jeanette et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet. 2009 Mar;41(3):280-2. Epub 2009 Feb 8. PMID: 19198612.

18. Hiura, Yumiko et al. Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population. Circ J. 2008 Aug;72(8):1213-7. PMID: 18654002.

19. Yang XC et al. Association study between three polymorphisms and myocardial infarction and ischemic stroke in Chinese Han population. Thromb Res. 2010 Feb 15. PMID: 20163833.

20. Zhou, Li et al. Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population. Arterioscler Thromb Vasc Biol. 2008 Nov;28(11):2085-9. Epub 2008 Aug 28. PMID: 18757290.

21. Ozaki, Kouichi et al. SNPs in BRAP associated with risk of myocardial infarction in Asian populations. Nat Genet. 2009 Mar;41(3):329-33. Epub 2009 Feb 8. PMID: 19198608.

22. Hinohara, Kunihiko et al. Validation of eight genetic risk factors in East Asian populations replicated the association of BRAP with coronary artery disease. J Hum Genet. 2009 Nov;54(11):642-6. Epub 2009 Aug 28. PMID: 19713974.

deCODE Clopidogrel™

For information on indications, dosage, side effects and more, please refer to:

http://www.rxlist.com/plavix-drug.htm

References

1. Mega JL, Close SL, Wiviott SD, et al, “Cytochrome P-450 Polymorphisms and Response to Clopidogrel,” N Engl J Med, 2009, 360(4):354-62.PubMed 19106084

2. Trenk D et al. Cytochrome P450 2C19 681G>A polymorphism and high on-clopidogrel platelet reactivity associated with adverse 1-year clinical outcome of elective percutaneous coronary intervention with drug-eluting or bare-metal stents. J Am Coll Cardiol. 2008 May 20;51(20):1925-34.

3. Brandt JT et al. Common polymorphisms of CYP2C19 and CYP2C9 affect the pharmacokinetic and pharmacodynamic response to clopidogrel but not prasugrel. J Thromb Haemost. 2007 Dec;5(12):2429-36. Epub 2007 Sep 26

4. Shuldiner AR, O´Connell JR et al. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of Clopidogrel therapy. JAMA, 2009,302 (8), 855-858

5. Collet J-P, Hulot J-S, Pena A, et al, “Cytochrome P450 2C19 Polymorphism in Young Patients Treated With Clopidogrel After Myocardial Infarction: A Cohort Study,” Lancet, 2009, 373(9660):309-17.PubMed 19108880

6. Simon T, Verstuyft C, Mary-Krause M, et al, “Genetic Determinants of Response to Clopidogrel and Cardiovascular Events,” N Engl J Med, 2009, 360(4):363-75.PubMed 19106083

7. Matetzky S, Shenkman B et al. Clopidogrel resistance is associated with increased risk of recurrent atherothrombotic events in patients with acute myocardial infarction. Circulation. 2004 Jun 29;109(25):3171-5. Epub 2004 Jun 7

8. Hochholzer W, Trenk D et al. Impact of the degree of peri-interventional platelet inhibition after loading with clopidogrel on early clinical outcome of elective coronary stent placement. J Am Coll Cardiol. 2006 Nov 7;48(9):1742-50. Epub 2006 Oct 17.

9. Mega JL, Close SL et al Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON-TIMI 38 trial: a pharmacogenetic analysis. Lancet. 2010 Oct 16;376(9749):1312-9.

10. Guillaume Paré, M.D., Shamir Ret al.Effects of CYP2C19 Genotype on Outcomes of Clopidogrel Treatment. N Engl J Med 2010; 363:1704-171.

11. Wallentin L, James S, Storey RF, et al. Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial. Lancet. 2010 Oct 16;376(9749):1320-8.

12. Desta Z, Zhao X, Shin JG, Flockhart DA. Clinical significance of the cytochrome P450 2C19 genetic polymorphism. Clin Pharmacokinet. 2002;41(12):913-58. Review

13. Sibbing D, Koch W, Gebhard D, et al, “Cytochrome 2C19*17 Allelic Variant, Platelet Aggregation, Bleeding Events, and Stent Thrombosis in Clopidogrel-Treated Patients With Coronary Stent Placement,” Circulation, 2010, 121(4):512-8.PubMed 20083681

14. Mega JL, Simon T, et al.Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis. JAMA. 2010 Oct 27;304(16):1821-30.

15. Holmes DR Jr, Dehmer GJ, et al. ACCF/AHA clopidogrel clinical alert: approaches to the FDA ‘boxed warning’: a report of the American College of Cardiology Foundation Task Force on clinical expert consensus documents and the American Heart Association endorsed by the Society for Cardiovascular Angiography and Interventions and the Society of Thoracic Surgeons. J Am Coll Cardiol. 2010 Jul 20;56(4):321-41.

deCODE Cancer

Basal Cell Carcinoma References

1. Stacey, Simon N et al. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. Nat Genet. 2008 Nov;40(11):1313-8. Epub 2008 Oct 12. PMID: 18849993

2. Rafnar, Thorunn et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009 Feb;41(2):221-7. Epub 2009 Jan 18. PMID: 19151717

3. Stacey, Simon N et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet. 2009 Aug;41(8):909-14. Epub 2009 Jul 5. PMID: 19578363

4. Baird, Duncan M. Variation at the TERT locus and predisposition for cancer. Expert Rev Mol Med. 2010 May 18;12:e16. PMID: 20478107

5. Gerstenblith, Meg R et al. Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell Melanoma Res. 2010 Oct;23(5):587-606. Epub 2010 Jul 16. PMID: 20546537

6. Eshkoor, Sima Ataollahi et al. p16 gene expression in basal cell carcinoma. Arch Med Res. 2008 Oct;39(7):668-73. PMID: 18760195

7. Udayakumar, Durga, Tsao, Hensin. Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. Genome Med. 2009 Oct 27;1(10):95. PMID: 19863770

8. Miller, D L, Weinstock, M A. Nonmelanoma skin cancer in the United States: incidence. J Am Acad Dermatol. 1994 May;30(5 Pt 1):774-8. PMID: 8176018

9. Gyorgy, B., Toth, E., Tarcsa, E., Falus, A. & Buzas, E.I. Citrullination: a posttranslational modification in health and disease. Int. J. Biochem. Cell Biol. 38, 1662–1677 (2006). 

10. Mollinari, C. et al. The mammalian passenger protein TD-60 is an RCC1 family member with an essential role in prometaphase to metaphase progression.Dev. Cell 5, 295–307 (2003). 

11. Winkler, S., Mohl, M., Wieland, T. & Lutz, S. GrinchGEF—a novel Rho-specific guanine nucleotide exchange factor. Biochem. Biophys. Res. Commun. 335, 1280–1286 (2005). 

12. Tao, W., Pennica, D., Xu, L., Kalejta, R.F. & Levine, A.J. Wrch-1, a novel member of the Rho gene family that is regulated by Wnt-1. Genes Dev. 15, 1796–1807 (2001).

Bladder Cancer References

1. Rothman, Nathaniel et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet. 2010 Nov;42(11):978-84. Epub 2010 Oct 24. PMID: 20972438

2. Kiemeney, Lambertus A et al. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet. 2008 Nov;40(11):1307-12. Epub 2008 Sep 14. PMID: 18794855

3. Wu, Xifeng et al. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet. 2009 Sep;41(9):991-5. Epub 2009 Aug 2. PMID: 19648920

4. Kiltie, Anne E. Common predisposition alleles for moderately common cancers: bladder cancer. Curr Opin Genet Dev. 2010 Jun;20(3):218-24. Epub 2010 Feb 12. PMID: 20153630

5. Stern, Mariana C et al. Sequence variant on 3q28 and urinary bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. Cancer Epidemiol Biomarkers Prev. 2009 Nov;18(11):3057-61. Epub 2009 Oct 20. PMID: 19843673

6. Rafnar, Thorunn et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009 Feb;41(2):221-7. Epub 2009 Jan 18. PMID: 19151717

7. Wang, Meilin et al. Common genetic variants on 8q24 contribute to susceptibility to bladder cancer in a Chinese population. Carcinogenesis. 2009 Jun;30(6):991-6. Epub 2009 Apr 15. PMID: 19369583

8. Wang, Shizhi et al. Genetic variation in PSCA and bladder cancer susceptibility in a Chinese population. Carcinogenesis. 2010 Apr;31(4):621-4. Epub 2010 Jan 18. PMID: 20083643

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12. Gu, Z. et al. Prostate stem cell antigen (PSCA) expression increases with high Gleason score, advanced stage and bone metastasis in prostate cancer. Oncogene 19, 1288–1296 (2000).

13. Saffran, D.C. et al. Anti-PSCA mAbs inhibit tumor growth and metastasis formation and prolong the survival of mice bearing human prostate cancer xenografts. Proc. Natl. Acad. Sci. USA 98, 2658–2663 (2001).

14. Gu, Z., Yamashiro, J., Kono, E. & Reiter, R.E. Anti-prostate stem cell antigen monoclonal antibody 1G8 induces cell death in vitro and inhibits tumor growth in vivo via a Fc-independent mechanism. Cancer Res. 65, 9495–9500 (2005).

15. Amara, N. et al. Prostate stem cell antigen is overexpressed in human transitional cell carcinoma. Cancer Res. 61, 4660–4665 (2001).

16. Cheng, L. et al. Immunocytochemical analysis of prostate stem cell antigen as adjunct marker for detection of urothelial transitional cell carcinoma in voided urine specimens. J. Urol. 169, 2094–2100 (2003).

17. Elsamman, E. et al. Prostate stem cell antigen predicts tumour recurrence in superficial transitional cell carcinoma of the urinary bladder. BJU Int. 97, 1202–1207 (2006).

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19. Blackburn, E.H. Switching and signaling at the telomere. Cell 106, 661–673 (2001). 

20. Wu, X. et al. Telomere dysfunction: a potential cancer predisposition factor.J. Natl. Cancer Inst. 95, 1211–1218 (2003).

21. Shen, J. et al. Short telomere length and breast cancer risk: a study in sister sets. Cancer Res. 67, 5538–5544 (2007). 

22. Widmann, T.A., Herrmann, M., Taha, N., Konig, J. & Pfreundschuh, M. Short telomeres in aggressive non-Hodgkin’s lymphoma as a risk factor in lymphomagenesis. Exp. Hematol. 35, 939–946 (2007). 

23. Risques, R.A. et al. Leukocyte telomere length predicts cancer risk in Barrett’s esophagus. Cancer Epidemiol. Biomarkers Prev. 16, 2649–2655 (2007). 

24. Han, J. et al. A prospective study of telomere length and the risk of skin cancer. J. Invest. Dermatol. advance online publication, doi: doi:10.1038/jid.2008.238 (31 July 2008). 

25. Urist, M.J. et al. Loss of p63 expression is associated with tumor progression in bladder cancer. Am. J. Pathol. 161, 1199–1206 (2002).

26. Koga, F. et al. Impaired p63 expression associates with poor prognosis and uroplakin III expression in invasive urothelial carcinoma of the bladder. Clin. Cancer Res. 9, 5501–5507 (2003).

Colorectal Cancer References

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2. von Holst, S et al. Association studies on 11 published colorectal cancer risk loci. Br J Cancer. 2010 Aug 10;103(4):575-80. Epub 2010 Jul 20. PMID: 20648012

3. Niittymaki, Iina et al. Low-penetrance susceptibility variants in familial colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2010 Jun;19(6):1478-83. Epub 2010 May 25. PMID: 20501757

4. Middeldorp, Anneke et al. Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Cancer Epidemiol Biomarkers Prev. 2009 Nov;18(11):3062-7. Epub 2009 Oct 20. PMID: 19843678

5. Tomlinson, Ian et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet. 2007 Aug;39(8):984-8. Epub 2007 Jul 8. PMID: 17618284

6. Tenesa, Albert et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008 May;40(5):631-7. Epub 2008 Mar 30. PMID: 18372901

7. Xiong, Fang et al. Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population. Cancer Epidemiol Biomarkers Prev. 2010 Jul;19(7):1855-61. Epub 2010 Jun 8. PMID: 20530476

8. Pittman, Alan M et al. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet. 2008 Dec 1;17(23):3720-7. Epub 2008 Aug 27. PMID: 18753146

9. Houlston, Richard S et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet. 2008 Dec;40(12):1426-35. Epub 2008 Nov 16. PMID: 19011631

10. Jaeger, Emma et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet. 2008 Jan;40(1):26-8. Epub 2007 Dec 16. PMID: 18084292

11. Broderick, Peter et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet. 2007 Nov;39(11):1315-7. Epub 2007 Oct 14. PMID: 17934461

12. Slattery, Martha L et al. Increased risk of colon cancer associated with a genetic polymorphism of SMAD7. Cancer Res. 2010 Feb 15;70(4):1479-85. Epub 2010 Feb 2. PMID: 20124488

13. Thompson, Cheryl L et al. Association of common genetic variants in SMAD7 and risk of colon cancer. Carcinogenesis. 2009 Jun;30(6):982-6. Epub 2009 Apr 8. PMID: 19357349

14. Kim, J.S. et al. Oncogenic -catenin is required for bone morphogenetic protein 4 expression in human cancer cells. Cancer Res. 62, 2744–2748 (2002). 

15. He, X.C. et al. BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt—catenin signaling. Nat. Genet. 36, 1117–1121 (2004). 

16. Howe, J.R. et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat. Genet. 28, 184–187 (2001). 

17. Zhou, X.P. et al. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am. J. Hum. Genet. 69, 704–711 (2001).   18. Yeager, M. et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat. Genet. 39, 645–649 (2007). 

19. Peck, J.W., Oberst, M., Bouker, K.B., Bowden, E. & Burbelo, P.D. The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization. J. Biol. Chem. 277, 43924–43932 (2002). 

20. Bellovin, D.I. et al. Reciprocal regulation of RhoA and RhoC characterizes the EMT and identifies RhoC as a prognostic marker of colon carcinoma.Oncogene 25, 6959–6967 (2006).   21. Jaeger, E. et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat. Genet. 40, 26–28 (2008).

22. SEER cancer statistics (http://seer.cancer.gov/statfacts/html/colorect.html) 

Lung Cancer References

1. Rafnar, Thorunn et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009 Feb;41(2):221-7. Epub 2009 Jan 18. PMID: 19151717

2. Landi, Maria Teresa et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet. 2009 Nov;85(5):679-91. Epub 2009 Oct 15. PMID: 19836008

3. Broderick, Peter et al. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Cancer Res. 2009 Aug 15;69(16):6633-41. Epub 2009 Aug 4. PMID: 19654303

4. Wang, Yufei et al. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Carcinogenesis. 2010 Feb;31(2):234-8. Epub 2009 Dec 2. PMID: 19955392

5. Thorgeirsson, Thorgeir E et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature. 2008 Apr 3;452(7187):638-42. PMID: 18385739

6. Niu, Xiaomin et al. Association of the CHRNA3 locus with lung cancer risk and prognosis in Chinese Han population. J Thorac Oncol. 2010 May;5(5):658-66. PMID: 20234319

7. Lips, Esther H et al. Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals. Int J Epidemiol. 2010 Apr;39(2):563-77. Epub 2009 Sep 23. PMID: 19776245

8. Amos, Christopher I et al. Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study. J Natl Cancer Inst. 2010 Aug 4;102(15):1199-205. Epub 2010 Jun 16. PMID: 20554942

9. Blackburn, E.H. Switching and signaling at the telomere. Cell 106, 661–673 (2001).

10. Wu, X. et al. Telomere dysfunction: a potential cancer predisposition factor.J. Natl. Cancer Inst. 95, 1211–1218 (2003).

11. Shen, J. et al. Short telomere length and breast cancer risk: a study in sister sets. Cancer Res. 67, 5538–5544 (2007).

12. Widmann, T.A., Herrmann, M., Taha, N., Konig, J. & Pfreundschuh, M. Short telomeres in aggressive non-Hodgkin’s lymphoma as a risk factor in lymphomagenesis. Exp. Hematol. 35, 939–946 (2007).

13. Risques, R.A. et al. Leukocyte telomere length predicts cancer risk in Barrett’s esophagus. Cancer Epidemiol. Biomarkers Prev. 16, 2649–2655 (2007).

14. Han, J. et al. A prospective study of telomere length and the risk of skin cancer. J. Invest. Dermatol. advance online publication, doi: doi:10.1038/jid.2008.238 (31 July 2008).

15. Villeneuve, P J, Mao, Y. Lifetime probability of developing lung cancer, by smoking status, Canada. Can J Public Health. 1994 Nov-Dec;85(6):385-8. PMID: 7895211

Ovarian Cancer References

1. Song, Honglin et al. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet. 2009 Sep;41(9):996-1000. Epub 2009 Aug 2. PMID: 19648919

2. Goode, Ellen L et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet. 2010 Oct;42(10):874-9. Epub 2010 Sep 19. PMID: 20852632

3. Gayther, Simon A, Pharoah, Paul D P. The inherited genetics of ovarian and endometrial cancer. Curr Opin Genet Dev. 2010 Jun;20(3):231-8. Epub 2010 Apr 24. PMID: 20456938

4. Vanhoutteghem, A. & Djian, P. Basonuclin 2: an extremely conserved homolog of the zinc finger protein basonuclin. Proc. Natl. Acad. Sci. USA 101, 3468–3473 (2004). 

5. Romano, R.A., Li, H., Tummala, R., Maul, R. & Sinha, S. Identification of Basonuclin2, a DNA-binding zinc-finger protein expressed in germ tissues and skin keratinocytes. Genomics 83, 821–833 (2004). 

6. O’Driscoll, L. et al. Investigation of the molecular profile of basal cell carcinoma using whole genome microarrays. Mol. Cancer 5, 74 (2006).

7. US National Institute of Health – National Cancer Institute – Surveillance Epidemiology and End Results Stat Fact Sheet (http://seer.cancer.gov/statfacts/html/ovary.html)

8. Jensen A, Sharif H, Frederiksen K, Kjaer SK. Use of fertility drugs and risk of ovarian cancer: Danish Population Based Cohort Study British Medical Journal. 2009 Feb 5;338:b249.

Testicular Cancer References

1. Rapley, Elizabeth A et al. A genome-wide association study of testicular germ cell tumor. Nat Genet. 2009 Jul;41(7):807-10. Epub 2009 May 31. PMID: 19483681

2. Kanetsky, Peter A et al. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet. 2009 Jul;41(7):811-5. Epub 2009 May 31. PMID: 19483682

3. Boldajipour, B. & Raz, E. What is left behind—quality control in germ cell migration. Sci. STKE 2007, pe16 (2007). 

4. Yan, W., Samson, M., Jegou, B. & Toppari, J. Bcl-w forms complexes with Bax and Bak, and elevated ratios of Bax/Bcl-w and Bak/Bcl-w correspond to spermatogonial and spermatocyte apoptosis in the testis. Mol. Endocrinol.14, 682–699 (2000). 

5. Czene K, Lichtenstein P, Hemminki K. Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish Family-Cancer Database. International Journal of Cancer 2002;99:260-6.

6. Huyghe E, Matsuda T, and Thonneau PF, Increasing incidence of testicular cancer worldwide: a review. The Journal of Urology, 2003. 170(1): p. 5-11.

Thyroid Cancer References

1. Gudmundsson, Julius et al. Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet. 2009 Apr;41(4):460-4. Epub 2009 Feb 6. PMID: 19198613

2. Takahashi, Meiko et al. The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. Hum Mol Genet. 2010 Jun 15;19(12):2516-23. Epub 2010 Mar 29. PMID: 20350937

3. Bonora, Elena et al. Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies. J Oncol. 2010;2010:385206. Epub 2010 Jun 10. PMID: 20628519

4. Dathan, N., Parlato, R., Rosica, A., De Felice, M. & Di Lauro, R. Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. Dev. Dyn. 224, 450–456 (2002). 

5. De Felice, M. et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat. Genet. 19, 395–398 (1998). 

6. Parlato, R. et al. An integrated regulatory network controlling survival and migration in thyroid organogenesis. Dev. Biol. 276, 464–475 (2004). 

7.Clifton-Bligh, R.J. et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat. Genet. 19, 399–401 (1998).

8. Zhang, P. et al. Immunohistochemical analysis of thyroid-specific transcription factors in thyroid tumors. Pathol. Int. 56, 240–245 (2006).

9. Surveillance, Epidemiology and End Results (SEER) Program Stat Fact Sheet (http://seer.cancer.gov/statfacts/html/thyro.html)

deCODE Cardio

Abdominal Aortic Aneurysm References

1. Gretarsdottir, Solveig et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet. 2010 Aug;42(8):692-7. Epub 2010 Jul 11. PMID: 20622881

2. Helgadottir, Anna et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008 Feb;40(2):217-24. Epub 2008 Jan 6. PMID: 18176561

3. Thompson, Andrew R et al. Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion. Eur J Hum Genet. 2009 Mar;17(3):391-4. Epub 2008 Oct 15. PMID: 18854858

4. Biros, Erik et al. Association of an allele on chromosome 9 and abdominal aortic aneurysm. Atherosclerosis. 2010 Oct;212(2):539-42. Epub 2010 Jun 15. PMID: 20605023

5. Bown, Matthew J et al. Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm. Circ Cardiovasc Genet. 2008 Oct;1(1):39-42. PMID: 20031540

6. Singh, K et al. Prevalence of and risk factors for abdominal aortic aneurysms in a population-based study : The Tromso Study. Am J Epidemiol. 2001 Aug 1;154(3):236-44. PMID: 11479188

Intracranial Aneurysm References

1. Bilguvar, Kaya et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 2008 Dec;40(12):1472-7. Epub 2008 Nov 9. PMID: 18997786

2. Yasuno, Katsuhito et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet. 2010 May;42(5):420-5. Epub 2010 Apr 4. PMID: 20364137

3. Ruigrok, Ynte M, Rinkel, Gabriel Je. From GWAS to the clinic: risk factors for intracranial aneurysms. Genome Med. 2010 Sep 10;2(9):61. PMID: 20831842

4. Helgadottir, Anna et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008 Feb;40(2):217-24. Epub 2008 Jan 6. PMID: 18176561

5. Hashikata, Hirokuni et al. Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients. Stroke. 2010 Jun;41(6):1138-44. Epub 2010 Apr 15. PMID: 20395613

6. Anderson, Christopher D et al. Chromosome 9p21 in ischemic stroke: population structure and meta-analysis. Stroke. 2010 Jun;41(6):1123-31. Epub 2010 Apr 15. PMID: 20395606

7. White, P M, Wardlaw, J M. Unruptured intracranial aneurysms. J Neuroradiol. 2003 Dec;30(5):336-50. PMID: 14752379

8. Inagawa, T. Trends in incidence and case fatality rates of aneurysmal subarachnoid hemorrhage in Izumo City, Japan, between 1980-1989 and 1990-1998. Stroke. 2001 Jul;32(7):1499-507. PMID: 11441192

9. Schievink WI, Genetics of intracranial aneurysms. Neurosurgery 40(4): 651-662,1997.

10. Pfohman M, Criddle LM. Epidemiology of intracranial aneurysm and subarachnoid hemorrhage. J Neurosci Nurs. 2001 Feb;33(1):39-41.

11. Astradsson and Astrup, An intracranial aneurysm in one identical twin, but no aneurysm in the other, Br J Neurosurg. 2001 Apr;15(2):168-71.

Venous Thromboembolism References

1. ACMG Consensus Statement 2001: http://www.geneclinics.org/profiles/factor-v-leiden/details.html#ACMGstatement01%23ACMGstatement01

2. CAP Consensus Conference Statement 2002: http://www.geneclinics.org/profiles/factor-v-leiden/details.html#CAP02%23CAP02

3. Manco-Johnson et al. On behalf of the Subcommittee for Perinatal and Pediatric Thrombosis of the Scientific and Standardization Committee of the International Society of Thrombosis and Haemostasis (ISTH). Thromb Haemost 88:155-6.

4. Bates SM, Greer IA, Hirsh J, Ginsberg JS (2004) Use of antithrombotic agents during pregnancy: the Seventh ACCP Conference on Antithrombotic and Thrombolytic Therapy. Chest 126 Suppl 3:627-44.

5. Camire RM, Pollak ES, Kaushansky K, Tracy PB (1998) Secretable human platelet-derived factor V originates from the plasma pool. Blood 92:3035-41.

6. Loew A, Jacob D, Neuhaus P, Riess H (2005) Resistance to activated protein C caused by factor V Leiden mutation and orthotopic liver transplantation.Transplantation 79:1422-7.

7. Crookston KP, Henderson R, Chandler WL (1998) False negative factor V Leiden assay following allogeneic stem cell transplant. Br J Haematol 100:600-2.

8. Press RD, Bauer KA, Kujovich JL, Heit JA. (2002) Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med. 2002 Nov;126(11):1304-18.

9. Trégouët DA, Heath S et al. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood. 2009 May 21;113(21):5298-303. Epub 2009 Mar 10.

10. Ehrenforth S, Nemes L, Mannhalter C, Rosendaal FR, Koder S, Zoghlami-Rintelen C, Scharrer I, Pabinger I (2004) Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691A. J Thromb Haemost 2:430-6.

11. Dentali F, Crowther M, Ageno W (2006) Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis. Blood 107:2766-73.

12. Heller C, Heinecke A, Junker R, Knofler R, Kosch A, Kurnik K, Schobess R, von Eckardstein A, Strater R, Zieger B, Nowak-Gottl U (2003) Cerebral venous thrombosis in children: a multifactorial origin. Circulation 108:1362-7.

13. Kuhle S, Massicotte P, Chan A, Mitchell L (2004) A case series of 72 neonates with renal vein thrombosis. Data from the 1-800-NO-CLOTS Registry. Thromb Haemost 92:729-33.

14. Manten B, Westendorp RG, Koster T, Reitsma PH, Rosendaal FR (1996) Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor V Leiden mutation [see comments]. Thromb Haemost 76:510-3.

15. Vandenbroucke JP, Bertina RM, Holmes ZR, Spaargaren C, van Krieken JH, Manten B, Reitsma PH (1998) Factor V Leiden and fatal pulmonary embolism. Thromb Haemost 79:511-6.

16. de Moerloose P, Reber G, Perrier A, Perneger T, Bounameaux H (2000) Prevalence of factor V Leiden and prothrombin G20210A mutations in unselected patients with venous thromboembolism. Br J Haematol 110:125-9.

17. Karemaker R, Emmerich MG, KTurkstra F, Kuijer P, Buler HR, Helley D (2000) Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism.Lancet 356:182-3

18. Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG (2004) Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 140:330-7

This content was last reviewed on January 26, 2011.