rs1042720

This variant is located in the ADRB2 gene.

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ClinVar annotation

Likely Benign
1 submitter

ADRB2-related disorder

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Research that mentions this SNP (1)

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Three major haplotypes of the β2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder
AssociationN=202Luda Diatchenko et al.(2006)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Study of 202 female subjects examining ADRB2 haplotypes defined by 8 SNPs and their associations with psychological traits, resting blood pressure, and temporomandibular disorder (TMD) risk. Three major haplotypes (H1, H2, H3) were identified representing 97.4% of variants. Heterozygotes carrying one H1 haplotype showed protective effects: highest positive psychological traits, higher resting blood pressure, and ~10-fold lower TMD risk (1.3% incidence vs 20% in H2/H2 homozygotes; RR=8.0-11.3 for homozygotes vs heterozygotes).

Traits studied:AnxietyBlood pressureDepressionPsychological traitsSomatizationTemporomandibular disorder
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]

View all ADRB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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