Rs2383206

rs10757274 and rs2383206 can significantly increase the risk of heart disease. About one in every four Caucasians are thought to carry the variants, and their risk of coronary heart disease is increased by 30 to 40%. rs10757278 in the same region has been linked to diabetes. The chromosomal region where these SNPs are located is 9p21, and has no known genes.

a blog post about investigating rs10757274 and rs2383206

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 1,000+ patients with early-onset angiographic coronary artery disease (CAD) concluded that rs2383206(G) was associated with an adjusted odds ratio of 1.39 (CI: 1.05-1.85) for (A;G) heterozygotes and 1.73 (CI: 1.26-2.37) for (G;G) homozygotes. This SNP alone accounted for 21% of the population attributable fraction and was independent of traditional risk factors, myocardial infarction risk, and the extent of disease.