Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
17921519
TITLE
Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism.
ABSTRACT
Seven alcohol-metabolizing enzymes are encoded by the human alcohol dehydrogenase (ADH) gene cluster on chromosome 4q22-23. One of these genes, ADH7, is uniquely expressed in the stomach mucosa and can influence metabolism of alcohol before its absorption into the blood. However, the contribution of ADH7 to the overall genetic variation in alcohol oxidation in vivo is unknown. Data on in vivo alcohol metabolism were obtained for 206 Australian twin pairs of Caucasian ancestry, following ingestion of a standard dose (0.75 g kg(-1) body weight) of alcohol. Twenty-five single nucleotide polymorphisms that cover the ADH7 encoding region were genotyped. The patterns of linkage disequilibrium among these SNPs identified a recombinational hotspot within intron 7 of the ADH7 gene. A model for the absorption and elimination of alcohol from the body led to the identification of haplotypes associated with inter-individual variation in the early stages of alcohol metabolism. These are within a 35 kb DNA tract contained in the region 5' of intron 7 in the ADH7 gene. The region accounts for 18% of the linkage for alcohol concentration associated with the ADH region, or approximately 11% of the genetic variance.
DATE PUBLISHED
2008 Jan 15
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2007/10/06
pubmed 2007/10/09 09:00
medline 2008/03/01 09:00
entrez 2007/10/09 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Birley AJ Birley Andrew J AJ Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia.
James MR James Michael R MR
Dickson PA Dickson Peter A PA
Montgomery GW Montgomery Grant W GW
Heath AC Heath Andrew C AC
Whitfield JB Whitfield John B JB
Martin NG Martin Nicholas G NG
INVESTIGATORS
JOURNAL
VOLUME: 17
ISSUE: 2
TITLE: Human molecular genetics
ISOABBREVIATION: Hum. Mol. Genet.
YEAR: 2008
MONTH: Jan
DAY: 15
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2083
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Mol Genet
COUNTRY: England
ISSNLINKING: 0964-6906
NLMUNIQUEID: 9208958
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Alcohol Dehydrogenase metabolism
Ethanol metabolism
Humans metabolism
Introns metabolism
Linkage Disequilibrium metabolism
Polymorphism, Single Nucleotide metabolism
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
3K9958V90M Ethanol
EC 1.1.1.1 ADH7 protein, human
EC 1.1.1.1 Alcohol Dehydrogenase
OTHER ID's