rs13036436

This is a upstream gene variant variant in the CHRNA4 gene.

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GWAS Catalog Trait Associations (7)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 1.0e-29
N 2,669,029
Large GWAS
European

nicotine dependence

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 G
OR 0.06
p 3.0e-23
N 576,432
Major Consortium StudyLarge GWAS
multi-ancestry

smoking behavior trait

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 G
OR 0.05
p 1.0e-21
N 188,898
Major Consortium StudyLarge GWAS
multi-ancestry

lung cancer

Gorman BR et al. “Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.” Nature Communications 15(1):8629 (2024)
Allele A
OR 0.92
p 9.0e-16
N 223,372
Large GWAS
multi-ancestry

bronchus cancer

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 G
OR 0.11
p 1.0e-13
N 628,412
Major Consortium StudyLarge GWAS
multi-ancestry

leukocyte quantity

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 G
OR 0.03
p 1.0e-12
N 545,812
Major Consortium StudyLarge GWAS
multi-ancestry

respiratory system cancer

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 G
OR 0.10
p 5.0e-12
N 627,607
Major Consortium StudyLarge GWAS
multi-ancestry

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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