rs1492078
This is a regulatory region variant variant in the AGTR1 gene.
▶Research that mentions this SNP (1)
▶Quantitated transcript haplotypes (QTH) ofAGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traitsFunctionalN=1,003Mohammad R. Abdollahi et al.(2007)· Human Mutation
This functional association study investigated AGTR1 transcript haplotypes and their relationship to metabolic syndrome traits in a Hertfordshire population cohort. The C allele of rs5186:A→C (A1166C) in the 3' UTR significantly reduced AGTR1 mRNA abundance (~27% of wild-type levels in CC homozygotes). The C-rs5182/A-rs5186 haplotype showed approximately twofold higher mRNA levels than other haplotypes. In men, rs5186 C allele carriers showed favorable metabolic profiles with lower fasting glucose, lower 30-minute glucose, and lower BMI, suggesting that differential AGTR1 mRNA stability mediates clinical associations with metabolic syndrome traits.
About AGTR1
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]
View all AGTR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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