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This genetic test helps identify individuals who may be at an increased risk of premature cardiovascular disease. Knowing this information can help the medical provider classify the patient’s cardiovascular risk more accurately, and implement more aggressive management of modifiable risk factors in appropriate patients.
The 9p21 gene has been shown to be an independent predictor of cardiovascular risk. Carriers have a 1.5-2.0 fold increased risk of cardiovascular disease (particularly stroke and abdominal aortic aneurysm) compared to non-carriers.
There are two possible 9p21 haplotypes, but each type confers a different type of cardiovascular risk.
Haplotype rs1333049 is associated with more severe multi-vessel obstructive coronary artery disease, though it is not associated with as many heart attacks.
Haplotype rs518394, on the other hand, is associated with prevalent heart attacks, but without significant stenosis (obstruction) of coronary arteries.
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REFERENCES
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2 – Li P, Qin C. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis. Gene. 2014;535(2):359-364.
3 - Zhang MJ, Hu ZC, Yin YW, et al. A meta-analysis of the relationship between MTHFR gene A1298C polymorphism and the risk of adult stroke. Cerebrovasc Dis. 2014;38(6):425-432.
4 – Kang S, Wu Y, Liu L, Zhao X, Zhang D. Association of the A1298C polymorphism in MTHFR gene with ischemic stroke. J Clin Neurosci. 2014;21(2):198-202.
5 – Saposnik G, Ray JG, Sheridan P, McQueen M, Lonn E; Heart Outcomes Prevention Evaluation 2 Investigators. Homocysteine-lowering therapy and stroke risk, severity, and disability: additional findings from the HOPE 2 trial. Stroke. 2009;40(4):1365-1372.