rs6474412

▶

GWAS Catalog Trait Associations (3)

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

cigarettes per day measurement

Erzurumluoglu AM et al. “Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.” Molecular Psychiatry 25(10):2392-2409 (2020)
Allele T
OR 0.04
p 2.0e-21
N 128,746
Meta-analysisLarge GWAS
multi-ancestry
Brazel DM et al. “Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.” Biological Psychiatry 85(11):946-955 (2019)
Allele T
OR 0.04
p 3.0e-16
N 153,918
Meta-analysisLarge GWAS
European

tobacco smoke exposure measurement

Brazel DM et al. “Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.” Biological Psychiatry 85(11):946-955 (2019)
Allele T
OR 0.03
p 1.0e-15
N 150,993
Meta-analysisLarge GWAS
European

smoking behavior

Thorgeirsson TE et al. “Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.” Nature Genetics 42(5):448-53 (2010)
Allele T
OR 0.29
p 1.0e-8
N 31,266
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…