Rs10757274

rs10757274 is a SNP located in chromosomal region 9p21; to date (2009), it is the strongest genetic predictor of early myocardial infarction (heart attack) discovered so far. SNPs in this region are also associated with increased risk of stroke, abdominal aortic aneurysm (AAA), and intracranial aneurysm.

Based on a large (20,000+) study primarily of Caucasian females, it appears that on its own, this single SNP does not improve on the discrimination or classification of predicted heart disease risk achieved by traditional risk factors, high-sensitivity C-reactive protein, and a family history of premature myocardial infarction.

rs10757274 and rs2383206 can double the risk of heart disease. About one in every four Caucasians are thought to carry the gene variants. rs10757278 in the same region has been linked to diabetes

a blog post about investigating rs10757274 and rs2383206

part 2 in the series mentions rs10811661

part 3 in the series mentions rs1333040, rs2383207 and rs10116277 rs10811661

This SNP was also associated with increased risk for coronary artery disease in a Korean population.

Also found to be significant in a study of 416 Italian myocardial infarction patients.

A study of 7,893 participants in the Rotterdam Study did not find any association between rs10757274 and either coronary heart disease or myocardial infarction.

rs10757274, rs2383206, rs1333049 haplotype associated with early-onset CHD (p=7.9 x 10(-7))

A study of 492 sudden and/or arrhythmic deaths and 1460 matched controls concluded that each rs10757274(G) allele conferred an odds ratio of about 1.3 for sudden cardiac death (p=0.003-0.001).


 * Note: odds ratios cited for genotypes are from