| The index variant (rs56372821) is a strong expression quantitative trait locus for CHRNA2; analyses of the genetically regulated gene expression identified a significant association of CHRNA2 expression with cannabis use disorder (CUD) in brain tissue. At the polygenic level, analyses revealed a significant decrease in the risk of CUD with increased load of variants associated with cognitive performance. | Genome-wide association study implicates CHRNA2 in cannabis use disorder.
Demontis D, Rajagopal VM, Thorgeirsson TE, Als TD, Grove J, Leppälä K, Gudbjartsson DF, Pallesen J, Hjorthøj C, Reginsson GW, Tyrfingsson T, Runarsdottir V, Qvist P, Christensen JH, Bybjerg-Grauholm J, Bækvad-Hansen M, Huckins LM, Stahl EA, Timmermann A, Agerbo E, Hougaard DM, Werge T, Mors O, Mortensen PB, Nordentoft M, Daly MJ, Stefansson H, Stefansson K, Nyegaard M, Børglum AD., Free PMC Article | 07/20/2019 |
| These results reveal a beige-selective immune-adipose interaction mediated through CHRNA2 and identify a novel function of nicotinic acetylcholine receptors in energy metabolism. | An immune-beige adipocyte communication via nicotinic acetylcholine receptor signaling.
Jun H, Yu H, Gong J, Jiang J, Qiao X, Perkey E, Kim DI, Emont MP, Zestos AG, Cho JS, Liu J, Kennedy RT, Maillard I, Xu XZS, Wu J., Free PMC Article | 05/18/2019 |
| In our analysis, we found one pair of SNPs in CHRNA1 and CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected significance in tests for GxG interaction. Our study suggested evidence of interactions between CHRNs in controlling the risk of NSCL/P. | Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.
Wang M, Liu D, Schwender H, Wang H, Wang P, Zhou Z, Li J, Wu T, Zhu H, Beaty TH. | 12/22/2018 |
| A crystal structure of a human neuronal CHRNA2 extracellular domain in pentameric assembly has been reported. | Crystal structure of a human neuronal nAChR extracellular domain in pentameric assembly: Ligand-bound α2 homopentamer.
Kouvatsos N, Giastas P, Chroni-Tzartou D, Poulopoulou C, Tzartos SJ., Free PMC Article | 01/27/2018 |
| The rare variants in CHRNA2 were significantly associated with smoking status. | The contribution of rare and common variants in 30 genes to risk nicotine dependence.
Yang J, Wang S, Yang Z, Hodgkinson CA, Iarikova P, Ma JZ, Payne TJ, Goldman D, Li MD., Free PMC Article | 08/6/2016 |
| a heterozygous single-nucleotide substitution in CHRNA2 gene (c.1126 C>T; p. Arg376Trp) in subjects with benign familial infantile seizures | Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.
Trivisano M, Terracciano A, Milano T, Cappelletti S, Pietrafusa N, Bertini ES, Vigevano F, Specchio N. | 08/29/2015 |
| CHRNA2 mutations play a causative role in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). | Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.
Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R., Free PMC Article | 06/20/2015 |
| Results show that D478E variation in nAChR alpha2 subunit increases the peak current responses of both alpha2beta2- and alpha2beta4-nAChRs; but the D478N variation in nAChR alpha2 subunit only increases the peak current responses of alpha2beta2-nAChRs | Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function.
Dash B, Li MD., Free PMC Article | 04/4/2015 |
| Level of cigarettes per day during adolescence and young adulthood is associated with CHRNB3A6, CHRNA5A3B4, and CHRNA2 | Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.
Cannon DS, Mermelstein RJ, Hedeker D, Coon H, Cook EH, McMahon WM, Hamil C, Dunn D, Weiss RB., Free PMC Article | 12/6/2014 |
| Results indicate that the CHRNA2 signal peptide mutation T22I modulates the function of both alpha2beta2- and alpha2beta4-nAChR and decreases sensitivities to nicotine and acetylcholine, and quite possibly increasing susceptibility to nicotine dependence | A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function.
Dash B, Lukas RJ, Li MD., Free PMC Article | 12/6/2014 |
| findings indicate that both CHRNA2 and CHRNA6 play a significant role in the etiology of ND in AA and EA smokers | Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.
Wang S, D van der Vaart A, Xu Q, Seneviratne C, Pomerleau OF, Pomerleau CS, Payne TJ, Ma JZ, Li MD., Free PMC Article | 05/31/2014 |
| mutations of CHRNB2 and CHRNA2 genes may be rare in Chinese autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) population. | [Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy].
Chen ZH, Zhai QX, Gui J, Zhang YX, Guo YX, Ding J, Hao Y. | 04/16/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Why do young women smoke? VI. A controlled study of nicotine effects on attention: pharmacogenetic interactions.
Rigbi A, Yakir A, Sarner-Kanyas K, Pollak Y, Lerer B. | 04/7/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene | Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.
Hoda JC, Wanischeck M, Bertrand D, Steinlein OK. | 01/21/2010 |
| data demonstrate the rarity of the identified CHRNA2 mutations in nocturnal frontal lobe epilepsy patients, supporting the recently reported hypothesis of a restricted role for this gene in the disease | CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.
Combi R, Ferini-Strambi L, Tenchini ML, Combi R, Ferini-Strambi L, Tenchini ML. | 01/21/2010 |
| Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
Need AC, Keefe RS, Ge D, Grossman I, Dickson S, McEvoy JP, Goldstein DB., Free PMC Article | 02/11/2009 |
| The CHRNA2 rs2043063 SNP might be a risk factor for overweight/obesity in Koreans | Association of CHRNA2 polymorphisms with overweight/obesity and clinical characteristics in a Korean population.
Kim J, Kim J. | 01/21/2010 |
| From a panel of 59 single-nucleotide polymorphisms (SNPs) located on 11 candidate genes, we identify four SNPs (one each on CHRNA5 and CHRNA2 and two on CHAT) that appear to have pharmacogenetic relevance in smokin cessation therapy. | Identification of pharmacogenetic markers in smoking cessation therapy.
Heitjan DF, Guo M, Ray R, Wileyto EP, Epstein LH, Lerman C, Heitjan DF, Guo M, Ray R, Wileyto EP, Epstein LH, Lerman C., Free PMC Articles: PMC2655206, PMC2655206 | 01/21/2010 |
| Results suggest that neither CHRNA4 nor CHRNB2 plays a major role in Japanese methamphetamine-use disorder. | Alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes are not associated with methamphetamine-use disorder in the Japanese population.
Kishi T, Ikeda M, Kitajima T, Yamanouchi Y, Kinoshita Y, Kawashima K, Inada T, Harano M, Komiyama T, Hori T, Yamada M, Iyo M, Sora I, Sekine Y, Ozaki N, Ujike H, Iwata N. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.
Combi R, Ferini-Strambi L, Tenchini ML, Combi R, Ferini-Strambi L, Tenchini ML. | 04/3/2008 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function.
Rigbi A, Kanyas K, Yakir A, Greenbaum L, Pollak Y, Ben-Asher E, Lancet D, Kertzman S, Lerer B. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (13) articlesResequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
Wessel J, McDonald SM, Hinds DA, Stokowski RP, Javitz HS, Kennemer M, Krasnow R, Dirks W, Hardin J, Pitts SJ, Michel M, Jack L, Ballinger DG, McClure JB, Swan GE, Bergen AW. A large-scale candidate gene association study of age at menarche and age at natural menopause.
He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
Saccone NL, Schwantes-An TH, Wang JC, Grucza RA, Breslau N, Hatsukami D, Johnson EO, Rice JP, Goate AM, Bierut LJ. Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.
Philibert RA, Todorov A, Andersen A, Hollenbeck N, Gunter T, Heath A, Madden P. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
Saccone NL, Saccone SF, Hinrichs AL, Stitzel JA, Duan W, Pergadia ML, Agrawal A, Breslau N, Grucza RA, Hatsukami D, Johnson EO, Madden PA, Swan GE, Wang JC, Goate AM, Rice JP, Bierut LJ. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.
Chen Y, Wu L, Fang Y, He Z, Peng B, Shen Y, Xu Q. Association of CHRNA2 polymorphisms with overweight/obesity and clinical characteristics in a Korean population.
Kim J, Kim J. Association of candidate genes with antisocial drug dependence in adolescents.
Corley RP, Zeiger JS, Crowley T, Ehringer MA, Hewitt JK, Hopfer CJ, Lessem J, McQueen MB, Rhee SH, Smolen A, Stallings MC, Young SE, Krauter K. Identification of pharmacogenetic markers in smoking cessation therapy.
Heitjan DF, Guo M, Ray R, Wileyto EP, Epstein LH, Lerman C, Heitjan DF, Guo M, Ray R, Wileyto EP, Epstein LH, Lerman C. A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely.
Gu W, Bertrand D, Steinlein OK. No evidence for association between 19 cholinergic genes and bipolar disorder.
Shi J, Hattori E, Zou H, Badner JA, Christian SL, Gershon ES, Liu C. No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder.
Lohoff FW, Ferraro TN, McNabb L, Schwebel C, Dahl JP, Doyle GA, Buono RJ, Berrettini WH. | 03/13/2008 |
| How mutations in the nAChRs can cause autosomal dominant nocturnal frontal lobe epilepsy | How mutations in the nAChRs can cause ADNFLE epilepsy.
Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, Phillips H, Bertrand S, Berkovic SF, Malafosse A, Mulley J. | 01/21/2010 |
| A new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, indicating that the nicotinic alpha 2 subunit alteration is the underlying cause. | Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.
Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G., Free PMC Article | 01/21/2010 |