RGD Reference Report - Involvement of acetaldehyde for full protection against alcoholism by homozygosity of the variant allele of mitochondrial aldehyde dehydrogenase gene in Asians.

General

Involvement of acetaldehyde for full protection against alcoholism by homozygosity of the variant allele of mitochondrial aldehyde dehydrogenase gene in Asians.
Authors:	Peng, GS Wang, MF Chen, CY Luu, SU Chou, HC Li, TK Yin, SJ
Citation:	Peng GS, etal., Pharmacogenetics 1999 Aug;9(4):463-76.
RGD ID:	734551
Pubmed:	PMID:10780266 (View Abstract at PubMed)
There is a functional polymorphism of the mitochondrial aldehyde dehydrogenase (ALDH2) gene with the variant allele (ALDH22) encoding a protein subunit that confers low activity to the tetrameric enzyme. Genetic epidemiologic studies have strongly suggested that homozygosity for the allele ALDH22 is sufficient in completely inhibiting the development of alcoholism in Asians. To study the pathophysiology of this unique pharmacogenetic effect, we recruited a total of eighteen adult Han Chinese men, matched by age, body-mass index, nutritional state and homozygosity at the alcohol dehydrogenase gene loci from a population base of 273 men. Six individuals were chosen for each of the three ALDH2 allelotypes: homozygous ALDH22/2, heterozygous ALDH21/2, and homozygous ALDH21/1. Following a low dose of ethanol (0.2 g/kg body weight), blood ethanol/acetaldehyde concentrations, cardiac and extracranial/intracranial arterial hemodynamic parameters, as well as self-rated subjective sensations, were measured for 130 min. Homozygous ALDH22 individuals were found to be strikingly responsive to the small amount of alcohol, as evidenced by the pronounced cardiovascular hemodynamic effects as well as subjective perception of general discomfort for as long as 2 h following ingestion. This low-dose alcohol hypersensitivity, accompanied by a prolonged and large accumulation of acetaldehyde in blood, provides an explanation for the strong protection against heavy drinking and alcoholism in individuals homozygous for the ALDH22 gene allele.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
alcohol use disorder		IAGP		734551		RGD
alcohol use disorder		ISO	ALDH2 (Homo sapiens)	734551; 734551		RGD

Objects Annotated

Genes (Rattus norvegicus)

Aldh2 (aldehyde dehydrogenase 2 family member)

Genes (Mus musculus)

Aldh2 (aldehyde dehydrogenase 2, mitochondrial)

Genes (Homo sapiens)

ALDH2 (aldehyde dehydrogenase 2 family member)

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Involvement of acetaldehyde for full protection against alcoholism by homozygosity of the variant allele of mitochondrial aldehyde dehydrogenase gene in Asians.