deCODE Complete
Analyzes risk factors for more than fifty common diseases and several traits, including all of those for which deCODEhealth offers individual disease tests. deCODE Complete focuses on medical conditions that can either be better prevented through altered lifestyle or that have better treatment outcomes if detected early. It is the most comprehensive genetic scan available for evaluating risk of common diseases. It is not generally reimbursable.
Diseases and conditions covered by the deCODE Complete Scan:
Abdominal Aortic Aneurysm, ABO Blood Types, Age Related Macular Degeneration, Alcohol Flush Reaction, Alzheimer’s Disease, Asthma, Atrial Fibrillation, Basal Cell Carcinoma, Bitter Taste Perception, Bladder Cancer, Brain Aneurysm, Brain Cancer-Glioma, Breast Cancer, Celiac Disease, Chronic Kidney Disease, Chronic Lymphocytic Leukemia, Chronic Obstructive Pulmonary Disease, Clopidogrel Response, Colorectal Cancer, Crohn’s Disease, Essential Tremor, Exfoliation Glaucoma, Eye Color, Gallstones, Gout, Heart Attack, Hemochromatosis, Hypertension, Kidney Stones, Lactose Intolerance, Lung Cancer, Male Pattern Baldness, Multiple Sclerosis, Nicotine Dependence, Obesity, Ovarian Cancer, Pancreatic Cancer, Peripheral Arterial Disease, Prostate Cancer, Psoriasis, Restless Legs Syndrome, Rheumatoid Arthritis, Statin Induced Myopathy, Systemic Lupus Erythematosus, Testicular Cancer, Thyroid Cancer, Type 1 Diabetes, Type 2 Diabetes, Ulcerative Colitis, Venous Thromboembolism, Warfarin Metabolism.
Statin Induced Myopathy
A genetic variant in the SLCO1B1 gene on chromosome 12 predisposes individuals to developing degenerative muscle disease (myopathy) when taking statin drugs (read the study).
The deCODE Complete Genetic Scan identifies the rs4149056 sequence variant in the SLCO1B1 gene and provides a genetic risk estimate of developing myopathy when taking statin drugs for individuals of European descent.
deCODEhealth identifies a genetic variant associated with increased risk of statin-induced muscle problems
Cholesterol is a natural product of the liver
Cholesterol is a natural product of the liver and is necessary for various functions in the body. However, when the liver produces too much cholesterol, it accumulates on the inside of arteries, leading to an increased risk of cardiovascular disease.
Statins reduce the liver´s production of cholesterol
A person’s cholesterol metabolism is complicated and dependent on several factors, for example, genetic make-up, weight and diet. Statins, (also known as HMG CoA reductase inhibitors), are a class of drugs that reduce the liver’s production of cholesterol by blocking the action of a particular liver enzyme (HMG CoA reductase) which is needed to make cholesterol.
Statin drugs can help prevent heart attacks
Statin drugs have been shown to lower the levels of the “bad cholesterol” LDL from 18% to 55% and to raise the levels of the “good cholesterol” HDL (High Density Lipoprotein) from 5% to 15%. Studies have also found that statin drugs can help the body to reabsorb cholesterol that has already accumulated on the inside of artery walls. Statin drugs are therefore useful in helping people avoid their first heart attack. For people who have already suffered a heart attack, they can help prevent further heart attacks.
While generally safe and effective, statins may in some cases cause adverse effects
Statin drugs are generally well tolerated and safe. In the United States they are approved by the Food and Drug Administration (FDA) for lifelong use. More than 100 million people worldwide are on statin drugs to treat high cholesterol levels and prevent heart disease. In rare cases, statin drugs can however cause adverse effects. These include liver problems, muscle weakness or pain – in other words, myopathy. Even more rare is the severe condition known as rhabdomyolysis characterised by rapid muscle breakdown.
Studies indicate that 1 out of every 10,000 persons taking low levels of statins (20 or 40 mg of Simvastatin daily) develops myopathy each year. The incidence increases to as much as 0.9% for those taking higher statin doses (80 mg of Simvastatin daily).
A genetic variant is associated with increased risk of statin induced myopathy
A recent study has identified a genetic variant (rs4149056) in the SLCO1B1 gene on chromosome 12 which is associated with increased risk of developing myopathy in those taking statin drugs. This genetic variant leads to a change in the amino acid sequence of the resulting protein, whereby Valine is replaced by Alanine at amino acid number 174.
The protein encoded by the SLCO1B1 gene is involved in the uptake of various compounds in the liver, including statins. Individuals carrying the C allele of rs4149056 (about 15% of the population), produce SLCO1B1 proteins with a reduced capacity to bind statin in the liver. This means that more of the statin is left circulating in the blood, which in turn can lead to adverse systemic effects like myopathy and rhabdomyolysis.
The study found that individuals carrying two copies of the risk-allele (the CC genotype of rs4149056, occurring in about 2.2% of the population) had a 15% chance of developing myopathy, when taking 80 mg simvastatin per day, in the first year after beginning therapy. For those carrying one copy of the C allele (the CT genotype; about 25% of the population) the chance of developing myopathy was 1.4% and for those carrying no copies of the risk allele (the TT genotype) the chance was 0.3%. Although this study draws its conclusions from simvastatin daily use, the authors suggest these findings are likely to apply to other statins also.
The deCODE Complete Scan identifies the rs4149056 sequence variant in the SLCO1B1 gene and provides an estimate of the risk of developing myopathy when taking statin drugs for individuals of European descent.
Please note that this variant only provides information about your patients’ genetic propensity in relation to statin-induced myopathy. Many other factors can affect your patients’ actual risk of developing myopathy. Thus, not every carrier of the risk allele will develop myopathy. Furthermore, those with no copies of the risk allele may develop myopathy.
If one develops muscle pain or weakness during statin treatment they should consult a physician.
It is essential that any decisions about statin therapy be taken in consultation with a physician.
This content was last reviewed on February 23, 2011.