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dc.contributor.authorBierut, Laura Jean
dc.contributor.authorStitzel, Jerry A
dc.contributor.authorWang, Jen C
dc.contributor.authorHinrichs, Anthony L
dc.contributor.authorGrucza, Richard A
dc.contributor.authorXuei, Xiaoling
dc.contributor.authorSaccone, Nancy L
dc.contributor.authorSaccone, Scott F
dc.contributor.authorBertelsen, Sarah
dc.contributor.authorFox, Louis
dc.contributor.authorHorton, William J
dc.contributor.authorBreslau, Naomi
dc.contributor.authorBudde, John
dc.contributor.authorCloninger, C Robert
dc.contributor.authorDick, Danielle M
dc.contributor.authorForoud, Tatiana
dc.contributor.authorHatsukami, Dorothy
dc.contributor.authorHesselbrock, Victor
dc.contributor.authorJohnson, Eric O
dc.contributor.authorKramer, John
dc.contributor.authorKuperman, Samuel
dc.contributor.authorMadden, Pamela A F
dc.contributor.authorMayo, Kevin
dc.contributor.authorNurnberger, John
dc.contributor.authorPomerleau, Ovide
dc.contributor.authorPorjesz, Bernice
dc.contributor.authorReyes, Oliver
dc.contributor.authorSchuckit, Marc
dc.contributor.authorSwan, Gary
dc.contributor.authorTischfield, Jay A
dc.contributor.authorEdenberg, Howard J
dc.contributor.authorRice, John P
dc.contributor.authorGoate, Alison M
dc.date.accessioned2023-02-01T20:45:16Z
dc.date.available2023-02-01T20:45:16Z
dc.date.issued2008-06-02
dc.identifier.citationBierut LJ, Stitzel JA, Wang JC, Hinrichs AL, Grucza RA, Xuei X, Saccone NL, Saccone SF, Bertelsen S, Fox L, Horton WJ, Breslau N, Budde J, Cloninger CR, Dick DM, Foroud T, Hatsukami D, Hesselbrock V, Johnson EO, Kramer J, Kuperman S, Madden PA, Mayo K, Nurnberger J Jr, Pomerleau O, Porjesz B, Reyes O, Schuckit M, Swan G, Tischfield JA, Edenberg HJ, Rice JP, Goate AM. Variants in nicotinic receptors and risk for nicotine dependence. Am J Psychiatry. 2008 Sep;165(9):1163-71. doi: 10.1176/appi.ajp.2008.07111711. Epub 2008 Jun 2. PMID: 18519524; PMCID: PMC2574742.en_US
dc.identifier.eissn1535-7228
dc.identifier.doi10.1176/appi.ajp.2008.07111711
dc.identifier.pmid18519524
dc.identifier.urihttp://hdl.handle.net/20.500.12648/8218
dc.description.abstractA recent study provisionally identified numerous genetic variants as risk factors for the transition from smoking to the development of nicotine dependence, including an amino acid change in the alpha5 nicotinic cholinergic receptor (CHRNA5). The purpose of this study was to replicate these findings in an independent data set and more thoroughly investigate the role of genetic variation in the cluster of physically linked nicotinic receptors, CHRNA5-CHRNA3-CHRNB4, and the risk of smoking.
dc.description.abstractIndividuals from 219 European American families (N=2,284) were genotyped across this gene cluster to test the genetic association with smoking. The frequency of the amino acid variant (rs16969968) was studied in 995 individuals from diverse ethnic populations. In vitro studies were performed to directly test whether the amino acid variant in the CHRNA5 influences receptor function.
dc.description.abstractA genetic variant marking an amino acid change showed association with the smoking phenotype (p=0.007). This variant is within a highly conserved region across nonhuman species, but its frequency varied across human populations (0% in African populations to 37% in European populations). Furthermore, functional studies demonstrated that the risk allele decreased response to a nicotine agonist. A second independent finding was seen at rs578776 (p=0.003), and the functional significance of this association remains unknown.
dc.description.abstractThis study confirms that at least two independent variants in this nicotinic receptor gene cluster contribute to the development of habitual smoking in some populations, and it underscores the importance of multiple genetic variants contributing to the development of common diseases in various populations.
dc.language.isoenen_US
dc.relation.urlhttps://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2008.07111711en_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleVariants in nicotinic receptors and risk for nicotine dependence.en_US
dc.typeArticle/Reviewen_US
dc.source.journaltitleThe American journal of psychiatryen_US
dc.source.volume165
dc.source.issue9
dc.source.beginpage1163
dc.source.endpage71
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.description.versionAMen_US
refterms.dateFOA2023-02-01T20:45:16Z
html.description.abstractA recent study provisionally identified numerous genetic variants as risk factors for the transition from smoking to the development of nicotine dependence, including an amino acid change in the alpha5 nicotinic cholinergic receptor (CHRNA5). The purpose of this study was to replicate these findings in an independent data set and more thoroughly investigate the role of genetic variation in the cluster of physically linked nicotinic receptors, CHRNA5-CHRNA3-CHRNB4, and the risk of smoking.
html.description.abstractIndividuals from 219 European American families (N=2,284) were genotyped across this gene cluster to test the genetic association with smoking. The frequency of the amino acid variant (rs16969968) was studied in 995 individuals from diverse ethnic populations. In vitro studies were performed to directly test whether the amino acid variant in the CHRNA5 influences receptor function.
html.description.abstractA genetic variant marking an amino acid change showed association with the smoking phenotype (p=0.007). This variant is within a highly conserved region across nonhuman species, but its frequency varied across human populations (0% in African populations to 37% in European populations). Furthermore, functional studies demonstrated that the risk allele decreased response to a nicotine agonist. A second independent finding was seen at rs578776 (p=0.003), and the functional significance of this association remains unknown.
html.description.abstractThis study confirms that at least two independent variants in this nicotinic receptor gene cluster contribute to the development of habitual smoking in some populations, and it underscores the importance of multiple genetic variants contributing to the development of common diseases in various populations.
dc.description.institutionSUNY Downstateen_US
dc.description.departmentHenri Begleiter Neurodynamics Laboratoryen_US
dc.description.degreelevelN/Aen_US
dc.identifier.journalThe American journal of psychiatry


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