The 9p21 Gene and Atherosclerosis Risk
Cardiovascular disease is a leading contributor to morbidity and mortality, with 17.3 million deaths annually worldwide. Partly genetically-inherited, it is a particular risk for adults over age 60. Cardiovascular disease – coronary heart disease, cerebrovascular disease, peripheral artery disease, and atherosclerosis — are heavily influenced by factors such as insulin resistance, hypertension, dyslipidemia, inflammation, and coagulation properties.5 We know many of these factors can be mitigated by lifestyle changes including smoking cessation, increasing aerobic exercise, and eating a well-balanced diet, which can reduce the risk of catastrophic events such as myocardial infarction, or ischemic and hemorrhagic stroke.5 However, in some cases, particularly where family history of cardiovascular disease is prevalent,1 medications are needed to better manage health outcomes. In some patients, lifestyle and medication are still not enough, and greater intervention is necessary.
Knowing a patient’s genetic stasis can help to decrease the chance of developing cardiovascular disease before it even begins. An example of this is the genetic marker 9p21 and the role it plays in the development of atherosclerosis. Recent research has identified that the genetic marker 9p21 is located between two key cell-cycle inhibitors3 (cyclin-dependent kinase inhibitors) and is strongly associated with coronary artery disease. Researchers believe that mutations in this region may affect uncontrolled cell proliferation leading to atherosclerosis, arterial stiffness, and eventually coronary artery disease. Although environmental factors such as diet or smoking play an important role in atherosclerosis development, genetic factors represent consequential determinant of atherosclerotic cardiovascular disease risk.1,2 Carrying one variant allele increases the risk of coronary artery disease by 15 to 35 percent, with the risk doubling in a person with two of these variant alleles.4
Patients with this genetic variant would benefit from increased surveillance by their doctor. Knowing a patients stasis can help the doctor diagnose atherosclerosis sooner and consequently treat the condition more aggressively. The Cardiac Health Panel gives insight into how a patient’s genetic predisposition to cardiac problems can help healthcare providers optimize diagnosis and treatment.
- Roberts R. Genetics of Coronary Artery Disease. Cir Res. 2014; 114:1890-1903.
- The Welcome Trust Case Consortium, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145): 661-678.
- Genetics Home Reference. Genes: CDKN2A, http://ghr.nlm.nih.gov/gene/CDKN2A
- Roberts R and Stewart A. 9p21 and the Genetic Revolution for Coronary Artery Disease. Clinical Chemistry. 2012; 58(1):104-112.
- Palomaki, Glenn E., et al. Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies- A target evidence based review. Genet Med 2012:12(12): 772-784.
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