rs2273500

This variant is located in the CHRNA4 gene.

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GWAS Catalog Trait Associations (4)

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

chronic obstructive pulmonary disease

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.09
p 2.0e-9
N 635,145
Large GWAS
multi-ancestry

nicotine dependence

Hancock DB et al. “Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.” Translational Psychiatry 5(10):e651 (2015)
Allele C
OR —
β 0.058
p 8.0e-9
N 17,074
Meta-analysisLarge GWAS
European

parental longevity

Pilling LC et al. “Human longevity: 25 genetic loci associated in 389,166 UK biobank participants.” Aging 9(12):2504-2520 (2017)
Allele T
OR 0.02
p 2.0e-8
N 415,311
Major Consortium StudyLarge GWAS
European

cigarettes per day measurement

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele C
OR 0.04
p 8.0e-58
N 618,489
Large GWAS
European
Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)
Allele C
OR 0.04
p 2.0e-39
N 403,928
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele C
OR 0.03
p 3.0e-20
N 337,334
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

not specified

View on ClinVar →

About CHRNA4

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

View all CHRNA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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