rs2400707

This is a upstream gene variant variant in the ADRB2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

eosinophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.04
p 1.0e-32
N 485,659
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Interaction of theADRB2Gene Polymorphism With Childhood Trauma in Predicting Adult Symptoms of Posttraumatic Stress Disorder
AssociationN=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.

Traits studied:Childhood adversityPTSD symptomsPost-traumatic stress disorder
PubMedDOIMetascience Observatory
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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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