Neuronal acetylcholine receptor subunit alpha-5, also known as nAChRα5, is a protein that in humans is encoded by the CHRNA5 gene. (wikipedia.org)
The common nonsynonymous variant rs16969968 in the α5 nicotinic receptor subunit gene (CHRNA5) is the strongest genetic risk factor for nicotine dependence in European Americans and contributes to risk in African Americans. (ox.ac.uk)
Recently, the genetic mutationCHRNA5, which encodes a nicotinic receptor subunit, was identified as being associated with the cognitive impairments in schizophrenic patients and with nicotine dependence. (pasteur.fr)
Nicotinic acetylcholine2
Polymorphisms in the nicotinic acetylcholine receptor gene (CHRNA5/CHRNA3 locus) have been associated with several smoking related traits such as nicotine dependence, cigarette consumption, smoking cessation, lung cancer, and COPD. (nih.gov)
Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight. (bvsalud.org)
Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. (ox.ac.uk)
To comprehensively examine whether other CHRNA5 coding variation influences nicotine dependence risk, we performed targeted sequencing on 1582 nicotine-dependent cases (Fagerström Test for Nicotine Dependence score⩾4) and 1238 non-dependent controls, with independent replication of common and low frequency variants using 12 studies with exome chip data. (ox.ac.uk)
Our results indicate that common, low frequency and rare CHRNA5 coding variants are independently associated with nicotine dependence risk. (ox.ac.uk)
Nicotine dependence risk and lung cancer risk are associated with variants in a region of chromosome 15 encompassing genes encoding the nicotinic receptor subunits CHRNA5, CHRNA3 and CHRNB4. (elsevierpure.com)
Using gene expression and disease association studies, we provide evidence that both nicotine-dependence risk and lung cancer risk are influenced by functional variation in CHRNA5. (elsevierpure.com)
When the non-risk allele occurs on the background of low mRNA expression of CHRNA5, the risk for nicotine dependence and lung cancer is significantly lower compared to those with the higher mRNA expression. (elsevierpure.com)
We conclude that there are at least two distinct mechanisms conferring risk for nicotine dependence and lung cancer: altered receptor function caused by a D398N amino acid variant in CHRNA5 (rs16969968) and variability in CHRNA5 mRNA expression. (elsevierpure.com)
On the basis of known associations with nicotine dependence, we genotyped eight single-nucleotide polymorphisms (SNPs) on chromosome 8 (three bins) in the regions of CHRNB3 and CHRNA6, and six SNPs on chromosome 15 (three bins) in the regions of CHRNA5 and CHRNA3. (umn.edu)
Several independent studies show that the chromosome 15q25.1 region, which contains the CHRNA5-CHRNA3-CHRNB4 gene cluster, harbors variants strongly associated with nicotine dependence, other smoking behaviors, lung cancer and chronic obstructive pulmonary disease. (rti.org)
A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence. (cdc.gov)
Genes1
Another article reviewed the relevance of the CHRNA5 and CYP2A6 genes as important to risk of smoking heaviness, tobacco use disorder, and smoking-related diseases in humans. (cdc.gov)
Rs169699684
CONTEXT: Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. (ox.ac.uk)
We demonstrated that the risk allele of rs16969968 primarily occurs on the low mRNA expression allele of CHRNA5. (elsevierpure.com)
The non-risk allele at rs16969968 occurs on both high and low expression alleles tagged by rs588765 within CHRNA5. (elsevierpure.com)
Then, five single nucleotide polymorphisms (SNPs) of CHRNA3 (rs1317286), CHRNA4 (rs1044396), CHRNA7 (rs6494212), and CHRNA5 (rs16969968, rs684513) were analyzed in a sample of 1,035 schizophrenic patients and 816 healthy controls. (psychiatryinvestigation.org)
Next-generation sequencing with 180 × coverage identified 24 nonsynonymous variants and 2 frameshift deletions in CHRNA5, including 9 novel variants in the 2820 subjects. (ox.ac.uk)
Together, these variants identify three levels of risk associated with CHRNA5. (elsevierpure.com)
Still questions remain on whether the results for the CHRNA5/A3/B4 cluster variants, CYP2A6 variants, and NMR biomarker can be moved to the clinic. (nih.gov)
CHRNA3 and CHRNB41
To identify potential biological mechanisms that underlie this risk, we tested for cis -acting eQTLs for CHRNA5, CHRNA3 and CHRNB4 in human brain. (elsevierpure.com)
CYP2A61
Associations of CHRNA3/CHRNA5 and CYP2A6 loci with CPD and DBH with smoking cessation are also likely of importance in the smoking behaviours of patients with COPD. (nebraska.edu)
PMID1
PMID 23430818 ] Multiple isoforms and differential allelic expression of CHRNA5 in lung tissue and lungadenocarcinoma. (snpedia.com)
Acetylcholine1
Nicotinic acetylcholine receptors (nAChRs), such as CHRNA5, are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. (wikipedia.org)
CHRNA71
Sustained attention (CPT Boring Phase) was associated with CHRNA4, CHRNA5, CHRNA7, CHRNA10 and CHRNB3. (huji.ac.il)
Variation2
3. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. (nih.gov)
The putatively causal roles of methylation and expression of CHRNA5 in relation to COPD and lung cancer provide evidence for a mechanistic link between patterns of smoking-related epigenetic variation and lung diseases, and highlight potential therapeutic targets for lung diseases and smoking cessation. (biomedcentral.com)
Encodes1
Mendelian randomization analyses revealed that hypomethylation and lower expression of CHRNA5 , which encodes a smoking-related nicotinic receptor, are causally linked to increased risk of COPD and lung cancer. (biomedcentral.com)
CHRNA41
Selective attention (Stroop) was associated with CHRNA4, CHRNA5, CHRNA9 and CHRNB2. (huji.ac.il)
Gene cluster1
An association study on the CHRNA5/A3/B4 gene cluster, smoking and psoriasis vulgaris. (cdc.gov)
Smokers1
Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. (ox.ac.uk)
Identifies1
A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. (nih.gov)
Risk1
Another article reviewed genomic applications considered for implementation , including the CHRNA5 genetic test for disease risk, smoking cessation treatment, and for motivating smoking behavior change. (cdc.gov)
Feeding behavior1
Profound alteration in reward processing due to a human polymorphism in CHRNA5: a role in alcohol dependence and feeding behavior. (cdc.gov)
Mice4
In this study, scientists from the Integrative Neurobiology of Cholinergic Systems Unit (Institut Pasteur/CNRS), directed by Uwe Maskos, in collaboration with scientists from the ENS 3 and Inserm 3 , introduced the human CHRNA5 gene into mice with the aim of reproducing the cerebral deficits that characterize schizophrenia, namely behavioral deficits in situations of social interaction and while performing sensorimotor tasks. (pasteur.fr)
Using an in vivo imaging technique and a new computational analysis method, the scientists observed reduced activity in the prefrontal cortex of mice with the CHRNA5mutation. (pasteur.fr)
A common SNP in Chrna5 enhances morphine reward in female mice. (cdc.gov)
We conducted tests in mice lacking the Alpha5 coding gene (Chrna5) in ethanol-induced hypothermia, hypnosis, anxiolysis, and conditioned place preference. (vcu.edu)
Polymorphisms2
Polymorphisms in the CHRNA5 promoter are functionally associated with CHRNA5 transcript levels in lung tissue. (wikipedia.org)
Promoter polymorphisms and transcript levels of nicotinic receptor CHRNA5. (wikipedia.org)
Expression1
CHRNA5 expression research findings from the laboratory to CHRNA5 was among the markers with in bronchial cel s modulates cell the population. (who.int)
Prevention1
2016). An adolescent substance prevention model blocks the effect of CHRNA5genotype on smoking during high school . (iastate.edu)
Common1
These results establish a strong mechanistic link among early nicotine exposure, common CHRNA5-A3-B4 haplotypes, and adult nicotine addiction in three independent populations of European origins. (nih.gov)