rs11959427

This is a regulatory region variant variant in the ADRB2 gene.

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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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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 ADRB2

This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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