The (C;C) genotype (as published) of rs1948 was calculated to represent a hazard ratio of 1.29 (CI: 1.01-1.63) for initiation of tobacco and alcohol use at an earlier age than average. A linked SNP also in the A5A3B4 gene, rs8023462, showed similiar association. [PMID 18163978]
[PMID 17373692] No evidence for association between 19 cholinergic genes and bipolar disorder.
[PMID 18165968] Identification of pharmacogenetic markers in smoking cessation therapy.
[PMID 18571741] Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.
[PMID 18957677] The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.
[PMID 19029397] Nicotinic receptor gene variants influence susceptibility to heavy smoking.
[PMID 19492010] The genetic components of alcohol and nicotine co-addiction: from genes to behavior.
[PMID 22241830] Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits.
[PMID 23872218] Functional characterization of SNPs in CHRNA3/B4 intergenic region associated with drug behaviors
[PMID 22945651] Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.
[PMID 29666375] Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population.
[PMID 30453884] Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence.
[PMID 32580138] Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.