Gene: CHRNB4

Alternate names for this Gene: -

Gene Summary: This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: cholinergic receptor nicotinic beta 4 subunit

Type of Gene: protein-coding

rs12441998 in CHRNB4 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.

rs17487223 in CHRNB4 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

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

rs10851907 in CHRNB4 gene and Dental caries PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

rs10851907 in CHRNB4 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.

rs12441998 in CHRNB4 gene and Malignant neoplasm of lung 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.

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

rs10851907 in CHRNB4 gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs55958997 in CHRNB4 gene and Smoking PMID 25072098 2014 Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide.

rs1021070 in CHRNB4 gene and Smoking Behaviors PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

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

PMID 25072098 2014 Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide.

rs950776 in CHRNB4 gene and Sudden Cardiac Arrest PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs950776 in CHRNB4 gene and Sudden Cardiac Death PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs10851907 in CHRNB4 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.