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Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population

dc.contributor.authorMulligan, Connie J.en_US
dc.contributor.authorGoldfarb, Lev G.en_US
dc.contributor.authorRobin, Robert W.en_US
dc.contributor.authorSambuughin, Nyamkhishigen_US
dc.contributor.authorOsier, Michael V.en_US
dc.contributor.authorKittles, Rick A.en_US
dc.contributor.authorGoldman, Daviden_US
dc.contributor.authorHesselbrock, Dianeen_US
dc.contributor.authorLong, Jeffrey C.en_US
dc.date.accessioned2006-09-11T19:09:48Z
dc.date.available2006-09-11T19:09:48Z
dc.date.issued2003-09en_US
dc.identifier.citationMulligan, Connie J.; Robin, Robert W.; Osier, Michael V.; Sambuughin, Nyamkhishig; Goldfarb, Lev G.; Kittles, Rick A.; Hesselbrock, Diane; Goldman, David; Long, Jeffrey C.; (2003). "Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population." Human Genetics 113(4): 325-336. <http://hdl.handle.net/2027.42/47592>en_US
dc.identifier.issn1432-1203en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47592
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12884000&dopt=citationen_US
dc.description.abstractEnzymes encoded by two gene families, alcohol dehydrogenase ( ADH ) and aldehyde dehydrogenase ( ALDH ), mediate alcohol metabolism in humans. Allelic variants have been identified that alter metabolic rates and influence risk for alcoholism. Specifically, ADH1B*47His (previously ADH2-2 ) and ALDH2-2 have been shown to confer protection against alcoholism, presumably through accumulation of acetaldehyde in the blood and a resultant 'flushing response' to alcohol consumption. In the current study, variants at ADH1B (previously ADH2 ), ADH1C (previously ADH3 ), and ALDH2 were assayed in DNA extracts from participants belonging to a Southwest American Indian tribe ( n =490) with a high prevalence of alcoholism. Each subject underwent a clinical interview for diagnosis of alcohol dependence, as well as evaluation of intermediate phenotypes such as binge drinking and flushing response to alcohol consumption. Detailed haplotypes were constructed and tested against alcohol dependence and related intermediate phenotypes using both association and linkage analysis. ADH and ALDH variants were also assayed in three Asian and one African population (no clinical data) in order to provide an evolutionary context for the haplotype data. Both linkage and association analysis identified several ADH1C alleles and a neighboring microsatellite marker that affected risk of alcohol dependence and were also related to binge drinking. These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.en_US
dc.format.extent499513 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlagen_US
dc.subject.otherLifeSciencesen_US
dc.titleAllelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian populationen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbsecondlevelBiological Chemistryen_US
dc.subject.hlbtoplevelScienceen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Mich., USAen_US
dc.contributor.affiliationotherLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Sitka, Alaska, USAen_US
dc.contributor.affiliationotherDepartment of Surgery, Washington University, St. Louis, Mo., USAen_US
dc.contributor.affiliationotherNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md., USAen_US
dc.contributor.affiliationotherDepartment of Anthropology, University of Florida, PO Box 117305, Gainesville, FL , 32611, USAen_US
dc.contributor.affiliationotherDepartment of Genetics, Yale University School of Medicine, New Haven, Conn., USAen_US
dc.contributor.affiliationotherBarrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Ariz., USAen_US
dc.contributor.affiliationotherLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, Md., USAen_US
dc.contributor.affiliationotherNational Human Genome Center at Howard University, Washington, D.C., USAen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid12884000en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47592/1/439_2003_Article_971.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/s00439-003-0971-zen_US
dc.identifier.sourceHuman Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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