rs55958997

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GWAS Catalog Trait Associations (3)

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

Abdominal Aortic Aneurysm

Klarin D et al. “Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.” Circulation 142(17):1633-1646 (2020)
Allele A
OR 1.12
p 9.0e-14
N 179,814
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Risk gene variants for nicotine dependence in the CHRNA5–CHRNA3–CHRNB4 cluster are associated with cognitive performance
AssociationN=492Georg Winterer et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This population-based study examined natural selection on nicotinic receptor gene clusters (CHRNB3-A6 on chromosome 8 and CHRNA5-A3-B4 on chromosome 15) using 1000 Genomes data from three populations. Using Tajima's D and integrated haplotype score (iHS) tests, the authors found strong evidence for positive selection in the CHRNB3-A6 region and moderate evidence in CHRNA5-A3-B4. These regions harbor variants previously associated with nicotine dependence (rs16969968, rs1451240) and cocaine dependence. To understand the target of selection, the authors tested variants in COGA subjects (N=492) for association with cognitive phenotypes (WAIS tests) and found one significant association: rs7017612 with WAIS Digit Symbol score (β=0.43, p=0.003), suggesting memory and learning may be the driving force behind selection.

Traits studied:Alcohol dependenceCocaine dependenceCognitive functionLearningMemoryNicotine dependenceProcessing speed
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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