Rs5186

rs5186, a SNP known as +1166A/C or A1166C, is located in the 3' untranslated region of the angiotensin II receptor type 1 gene AGTR1, which is also known as AT2R1 or AT1R. It is among the most studied of over 50 SNPs in AGTR1.

The rs5186(C) allele is associated with increased risk for essential hypertension in Caucasian populations with an odds ratio of 7.3 (homozygote (C;C) compared to (A;C) and (A;A), CI: 1.9-31.9,p=0.0015).[PMID 8021009, PMID 9084931] There are likely to be ethnic differences in risk; while the rs5186(C) allele was associated with hypertension in a Chinese population, it was not been observed as a risk in a Japanese population. Age and gender may also influence risk, as discussed in a review of AGTR1 SNPs and their role in hypertension and related disorders.

Pregnant women who are rs5186(C) allele carriers are more likely to develop pregnancy-induced hypertension.

However, rs5186 does not appear to modify risk for developing coronary heart disease (CHD). A literature-based meta-analysis of studies published before June 2008 and totaling over 20,000 CHD cases concluded that there were no significant associations among the larger sample-size and high-quality studies.

Allele frequency:
 * C @ chr3:148459988: 21.5% (985/4584) in EVS
 * C @ chr3:149942677: 19.5% (25/128) in GET-Evidence
 * Frequency shown in summary reports: 21.5% (985/4584)

[GET-Evidence http://evidence.pgp-hms.org/rs5186]