Rs10757278

This SNP, rs10757278, is one of several clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes. The overall estimate of heart disease cases that may involve this SNP (or related ones nearby) is said to be 20-30%.

The risk allele, rs10757278(G), shows an increased association for myocardial infarctions ("MI"; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio relative to rs10757278(A:A) "noncarrier" individuals for rs10757278(G;G) individuals is 1.64 (CI: 1.47-1.82), and for carriers of one risk allele, i.e. rs10757278(A;G) individuals, 1.26 (CI: 1.16-1.36).

For early onset MI, the odds are slightly higher; homozygote rs10757278(G;G) individuals have an odds ratio of 2.02 (CI: 1.72-2.36), heterozygote rs10757278(A;G) individuals 1.49 (CI: 1.31-1.69) compared to noncarriers. To put it another way, men under the age of 50 and women under the age of 60 who are rs10757278(G:G) individuals have about twice the risk of having a heart attack compared to rs10757278(A:A) individuals.

Two other SNPs in this region with similar reports are rs10757274 and rs2383206.

In an extension of the research reported above, the rs10757278(G) allele has been found to be associated with stroke as defined by abdominal aortic aneurysm (AAA; odds ratio 1.31, p=1.2x10e-12) and Intracranial Aneurysm (odds ratio 1.29, p=2.5x10e-6), but not with type-2 diabetes. The AA genotype appears to be protective, with 0.77x odds of developing abdominal aortic aneurysm as reported by DeCode.

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 and meta-analysis of 2,000+ Belgians concluded that rs10757278 is associated with increased risk for coronary artery disease but not ischemic cerebrovascular disease.


 * Note: this SNP and rs1333049 are practically equivalent, with linkage r2=1 in HapMap CEU populations

coronary artery disease rs1075727 and rs2383206

myocardial infarction rs2383207 and rs10757278

The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54).

Brain Aneurysm

in Chinese women no significant breast cancer association at rs1011970, rs10757278 or rs2380205