Rs5186
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs5186 |
| hapmap | rs5186 |
| hgdp | rs5186 |
| ensembl | rs5186 |
| gopubmed | rs5186 |
| scholar | rs5186 |
| rs5186 | |
| pharmgkb | rs5186 |
| hgvbaseg2p | rs5186 |
| medrefsnp | rs5186 |
| 23andMe | rs5186 |
| SNP Nexus |
| Gene | AGTR1 |
| Chromosome | 3 |
| Orientation | plus |
| Position | 149942677 |
| Genotype | Effect |
|---|---|
| rs5186(C;C) | 7.3x increased risk of hypertension |
| rs5186(A;C) | ~1.4x increased risk of hypertension |
| rs5186(A;A) | normal risk |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs5186(A;A) | 00 | normal risk |
| Rs5186(A;C) | ~1.4x increased risk of hypertension | |
| Rs5186(C;C) | 7.3x increased risk of hypertension |
rs5186 is a SNP known as +1166A/C, 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 [PMID 11793845], it was not been observed as a risk in a Japanese population.[PMID 12627871] Age and gender may also influence risk, as discussed in a review of AGTR1 SNPs and their role in hypertension and related disorders.[PMID 15640279]
Pregnant women who are rs5186(C) allele carriers are more likely to develop pregnancy-induced hypertension.[PMID 11208365]
[PMID 19330904] Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure.
[PMID 19619703] Association of genetic variants with the metabolic syndrome in 20,806 white women: The women's health genome study
[PMID 19954723] The A1166C polymorphism of angiotensin II Type 1 receptor as a predictor of renal function decline over 4 years follow-up in an apparently healthy Chinese population
| PharmGKB | PA161145029 |
| Name | AGTR1:A1166C |
| Annotation | Linked to increased risk for development of hypertension, coronary disease, and stroke. |
| Gene | AGTR1 |
| Featue | 3' UTR |
| Evidence | PubMed ID:12215254; PubMed ID:12975417; PubMed ID:15863668; PubMed ID:17586411 |
| Drugs | |
| Diseases | |
| Curation Level | Curated |