rs11168070
This is a regulatory region variant variant in the ADRB2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
eosinophil count
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Interaction of theADRB2Gene Polymorphism With Childhood Trauma in Predicting Adult Symptoms of Posttraumatic Stress DisorderAssociationN=2,893Israel Liberzon et al.(2014)· JAMA Psychiatry
This genetic association study identified ADRB2 SNP rs2400707 as protective against PTSD symptoms in the context of childhood adversity (β=0.243, P=1.02×10^-5 in discovery cohort; P=0.0009 in replication cohort). The AA homozygotes showed lower PTSD severity with ≥2 categories of adverse childhood experiences across two independent cohorts (n=810 soldiers and n=2,083 civilians), with combined interaction effect P=3.97×10^-7. The protective A allele tags the H1 haplotype, hypothesized to represent low-transcription ADRB2 variant.
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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