Gene: CHRNA3

Alternate names for this Gene: BAIPRCK|LNCR2|NACHRA3|PAOD2

Gene Summary: This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: cholinergic receptor nicotinic alpha 3 subunit

Type of Gene: protein-coding

rs1051730 in CHRNA3 gene and Adenocarcinoma of lung (disorder) PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

rs4243084 in CHRNA3 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12914385 in CHRNA3 gene and Bronchitis, Chronic PMID 25241909 2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.

rs1051730 in CHRNA3 gene and Carcinoma of lung PMID 30104567 2018 Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk.

PMID 18978790 2008 Lung cancer susceptibility locus at 5p15.33.

PMID 29924316 2018 Genome-wide association study of familial lung cancer.

PMID 18978787 2008 Common 5p15.33 and 6p21.33 variants influence lung cancer risk.

rs12443170 in CHRNA3 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs1051730 in CHRNA3 gene and Chronic Obstructive Airway Disease PMID 21921092 2011 Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease.

PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

PMID 25101718 2015 IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.

PMID 24621683 2014 Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.

PMID 29631575 2018 The genetics of smoking in individuals with chronic obstructive pulmonary disease.

PMID 25241909 2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.

PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs1051730 in CHRNA3 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs1051730 in CHRNA3 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

rs28669908 in CHRNA3 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs1051730 in CHRNA3 gene and Malignant neoplasm of lung PMID 18385676 2008 Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.

PMID 18978787 2008 Common 5p15.33 and 6p21.33 variants influence lung cancer risk.

PMID 18385738 2008 A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.

PMID 18978790 2008 Lung cancer susceptibility locus at 5p15.33.

PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

rs1051730 in CHRNA3 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs1051730 in CHRNA3 gene and Nicotine Dependence PMID 18385739 2008 A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

rs8040868 in CHRNA3 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs12914385 in CHRNA3 gene and Pulmonary function PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs12914385 in CHRNA3 gene and Pulmonary function (finding) PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs12914385 in CHRNA3 gene and Respiratory Function Tests PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

rs12443170 in CHRNA3 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

rs12914385 in CHRNA3 gene and Serum albumin level PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

rs12914385 in CHRNA3 gene and Serum albumin measurement PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

rs1051730 in CHRNA3 gene and Smoking PMID 18385739 2008 A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

PMID 20418889 2010 Meta-analysis and imputation refines the association of 15q25 with smoking quantity.

PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

PMID 20418890 2010 Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

PMID 27669027 2017 Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.

rs1051730 in CHRNA3 gene and Smoking Behaviors PMID 20418890 2010 Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

PMID 22832964 2012 Genome-wide meta-analyses of smoking behaviors in African Americans.

PMID 20418889 2010 Meta-analysis and imputation refines the association of 15q25 with smoking quantity.

PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

PMID 27669027 2017 Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.

rs8040868 in CHRNA3 gene and Squamous cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs2869546 in CHRNA3 gene and Velopharyngeal dysfunction PMID 29855589 2018 GWAS reveals loci associated with velopharyngeal dysfunction.

rs1051730 in CHRNA3 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.