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Cited by 102Alcohol Consumption and Health EffectsGenetic Associations and EpidemiologySubstance Abuse Treatment and Outcomes

Allelic Variation at Alcohol Metabolism Genes (ADH1B, ADH1C, ALDH2) and Alcohol Dependence in an American Indian Population

Mulligan, Connie J., Robin, Robert W., Osier, Michael V., Sambuughin, Nyamkhishig, Goldfarb, Lev G., Kittles, Rick A., Hesselbrock, Diane, Goldman, David +1 more·2003·Human Genetics
DOI 10.1007/s00439-003-0971-z
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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 alco…

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  • Biology is a potential risk factor for alcohol abuse in AIANs, as AIANs are less likely to have variations of genes that are essential to effectively metabolize alcohol.

    “It appears that biology is a potential risk factor for alcohol abuse in this population, as AIANs are less likely to have variations of genes that are essential to effectively metabolize alcohol [47].”

    From Substance and Behavioral Addictions among American Indian and Alaska Native Populations (2022) · cites this paper as [47]

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Authors
Mulligan, C. J., Robin, R. W., Osier, M. V., Sambuughin, N., Goldfarb, L. G., Kittles, R. A., Hesselbrock, D., Goldman, D., & Long, J. C.
Affiliations
  • University of Florida (US)
  • National Institutes of Health (US)
  • Yale University (US)
  • Barrow Neurological Institute (US)
  • Howard University (US)
  • Washington University in St. Louis (US)
  • University of Michigan (US)
Corresponding author
Mulligan, Connie J.
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2003-09-01
Volume
113
Issue
4
Pages
325-336
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-003-0971-z
OpenAlex
W2124848379
Cited by
102
References
2
Citations by year
2023: 3 · 2022: 1 · 2021: 2 · 2020: 2 · 2019: 1 · 2018: 4 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 7 · 2013: 4 · 2012: 7
FWCI
5.03
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Deep Blue (University of Michigan) (acceptedVersion)
Funders
  • National Institute on Alcohol Abuse and Alcoholism (R03 AA12906, R01AA009379, R03AA012906, AA09379)
  • National Center for Research Resources (1P41-RR03655, P41RR003655)
Topics
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Alcohol Consumption and Health Effects
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Epidemiology › Substance Abuse Treatment and Outcomes
Keywords
alcoholism, alcohol metabolism genes, ADH1B, ADH1C, ALDH2, allelic variation, haplotypes, binge drinking, acetaldehyde accumulation, American Indian populations, genetic susceptibility to alcoholism, microsatellite markers
MeSH terms
Aldehyde Dehydrogenase, Mitochondrial, Alcohol Dehydrogenase, Ethanol, Alcoholism, Aldehyde Dehydrogenase, Gene Frequency, Genetic Markers, Haplotypes, Humans, Indians, North American, Genetic Linkage, Genetic Variation, Linkage Disequilibrium

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