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

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dc.contributor.author Mulligan, Connie J. en_US
dc.contributor.author Goldfarb, Lev G. en_US
dc.contributor.author Robin, Robert W. en_US
dc.contributor.author Sambuughin, Nyamkhishig en_US
dc.contributor.author Osier, Michael V. en_US
dc.contributor.author Kittles, Rick A. en_US
dc.contributor.author Goldman, David en_US
dc.contributor.author Hesselbrock, Diane en_US
dc.contributor.author Long, Jeffrey C. en_US
dc.date.accessioned 2006-09-11T19:09:48Z
dc.date.available 2006-09-11T19:09:48Z
dc.date.issued 2003-09 en_US
dc.identifier.citation Mulligan, 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.issn 1432-1203 en_US
dc.identifier.issn 0340-6717 en_US
dc.identifier.uri http://hdl.handle.net/2027.42/47592
dc.identifier.uri http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12884000&dopt=citation en_US
dc.description.abstract Enzymes 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.extent 499513 bytes
dc.format.extent 3115 bytes
dc.format.mimetype application/pdf
dc.format.mimetype text/plain
dc.language.iso en_US
dc.publisher Springer-Verlag en_US
dc.subject.other LifeSciences en_US
dc.title Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population en_US
dc.type Original Investigation en_US
dc.subject.hlbsecondlevel Molecular, Cellular and Developmental Biology en_US
dc.subject.hlbsecondlevel Genetics en_US
dc.subject.hlbsecondlevel Biological Chemistry en_US
dc.subject.hlbtoplevel Science en_US
dc.subject.hlbtoplevel Health Sciences en_US
dc.description.peerreviewed Peer Reviewed en_US
dc.contributor.affiliationum Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Mich., USA en_US
dc.contributor.affiliationother Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Sitka, Alaska, USA en_US
dc.contributor.affiliationother Department of Surgery, Washington University, St. Louis, Mo., USA en_US
dc.contributor.affiliationother National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md., USA en_US
dc.contributor.affiliationother Department of Anthropology, University of Florida, PO Box 117305, Gainesville, FL , 32611, USA en_US
dc.contributor.affiliationother Department of Genetics, Yale University School of Medicine, New Haven, Conn., USA en_US
dc.contributor.affiliationother Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Ariz., USA en_US
dc.contributor.affiliationother Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, Md., USA en_US
dc.contributor.affiliationother National Human Genome Center at Howard University, Washington, D.C., USA en_US
dc.contributor.affiliationumcampus Ann Arbor en_US
dc.identifier.pmid 12884000 en_US
dc.description.bitstreamurl http://deepblue.lib.umich.edu/bitstream/2027.42/47592/1/439_2003_Article_971.pdf en_US
dc.identifier.doi http://dx.doi.org/10.1007/s00439-003-0971-z en_US
dc.identifier.source Human Genetics en_US
dc.owningcollname Interdisciplinary and Peer-Reviewed
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