rs2276736

This is a regulatory region variant variant in the AGTR1 gene.

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Research that mentions this SNP (2)

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Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chronic hepatitis B
ReviewMauro Viganò et al.(2013)· Hepatology

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

Traits studied:Cardiovascular diseaseChronic kidney diseaseCirrhosisHepatic injuryHepatic steatosisHepatocellular carcinomaInsulin resistanceLipid metabolismLiver fibrosisMetabolic syndromeNecroinflammationNonalcoholic fatty liver disease (NAFLD)Nonalcoholic steatohepatitis (NASH)ObesityType 2 diabetes
PubMedDOIMetascience Observatory
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Dissociation betweenAPOC3variants, hepatic triglyceride content and insulin resistance
ReviewJulia Kozlitina et al.(2011)· Hepatology

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

Traits studied:Alcoholic liver diseaseCardiovascular diseaseChronic kidney diseaseHCCHepatic steatosisHepatic triglyceridesHepatitis B steatosisHepatitis C progressionHepatocellular carcinomaInsulin resistanceLipid metabolismLiver fat contentLiver fibrosisNAFLDNASHNecroinflammationNonalcoholic fatty liver diseaseNonalcoholic steatohepatitisType 2 diabetes
PubMedDOIMetascience Observatory

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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