rs5194
This is a 3 prime utr variant variant in the AGTR2 gene.
▶Research that mentions this SNP (1)
▶Angiotensin II type 2 receptor gene polymorphisms and cardioprotective role in essential hypertensionAssociationN=337Min Zhang et al.(2006)· Heart and Vessels
Case-control study of 262 hypertensive and 75 normotensive Cantonese subjects examining AT2R gene polymorphisms rs5193 (G/T) and rs5194 (G/A). T-A haplotype carriers showed significantly lower left ventricular mass (LVM) and left ventricular hypertrophy index (LVHI) compared to other haplotypes (P<0.0001), suggesting a cardioprotective role, though haplotypes were not associated with hypertension risk itself.
About AGTR2
The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-regulation of angiotensin converting enzyme-2 (ACE2) receptors, the effects of which, triggers serious inflammatory lesions in the tissues involved, primarily in the lungs. The inflammatory reaction appears to be mediated by angiotensin II derivatives, including the angiotensin AT2 receptor which has been found to be upregulated in bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]
View all AGTR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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