Rs1333049

rs1333049 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease.

The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24).

This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. [PMID 17634449, PMID 18362232]

The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios.

Further reading (with comments)

- A long-term study of a cohort of 769 individuals finds that the rs1333049(C) allele was associated with:
 * prevalent carotid atherosclerosis (odds ratio 1.46, 1.43 or 1.44, from data collected in 1990, 1995, and 2000, respectively, all with CI: ~1.1-1.9);
 * progression of atherosclerosis (for example, odds ratio 1.87 (CI: 1.44 to 2.42) during 1995 to 2000);
 * incident cardiovascular disease (hazard ratio: 1.37 (CI: 1.05 to 1.79)}.


 * Note: this SNP and rs10757278 are practically equivalent, with linkage r2=1 in HapMap CEU populations

- A study of 3,000+ patients with acute coronary sydrome (ACS) revealed that those carrying a rs1333049(C) allele were at higher risk for subsequent myocardial infarctions [adjusted hazard ratio 1.48, CI: 1.00-2.19, p = 0.048 and with recurrent MI or cardiac death (adjusted HR 1.58, CI: 1.00-2.48, p = 0.045) within 6 months after an index ACS.

- A study of 2630 white individuals (mean age, 76.4 years) concluded that the rs1333049(C) allele was associated with increased prevalence of peripheral artery disease. The per allele odds ratio was 1.29 (CI: 1.06 to 1.56, p = 0.012).

- In a cross-sectional study of individuals with stable coronary artery disease, there was no association with cardiovascular structure and function.

- rs1333049 1.15x risk associated with both coronary heart disease and stroke

Further reading (no comments added)