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Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism.

Abstract：

:Two of the three class I alcohol dehydrogenase (ADH) genes (ADH2 and ADH3) encode known functional variants that act on alcohol with different efficiencies. Variants at both these genes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls. Specifically, controls have higher frequencies of the variants with higher Vmax (ADH2*2 and ADH3*1). In samples both of alcoholics and of controls from three Taiwanese populations (Chinese, Ami, and Atayal) we found significant pairwise disequilibrium for all comparisons of the two functional polymorphisms and a third, presumably neutral, intronic polymorphism in ADH2. The class I ADH genes all lie within 80 kb on chromosome 4; thus, variants are not inherited independently, and haplotypes must be analyzed when evaluating the risk of alcoholism. In the Taiwanese Chinese we found that, only among those chromosomes containing the ADH3*1 variant (high Vmax), the proportions of chromosomes with ADH2*1 (low Vmax) and those with ADH2*2 (high Vmax) are significantly different between alcoholics and controls (P<10-5). The proportions of chromosomes with ADH3*1 and those with ADH3*2 are not significantly different between alcoholics and controls, on a constant ADH2 background (with ADH2*1, P=.83; with ADH2*2, P=.53). Thus, the observed differences in the frequency of the functional polymorphism at ADH3, between alcoholics and controls, can be accounted for by the disequilibrium with ADH2 in this population.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Osier M,Pakstis AJ,Kidd JR,Lee JF,Yin SJ,Ko HC,Edenberg HJ,Lu RB,Kidd KK

doi

10.1086/302317

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

1147-57

issue

4

eissn

0002-9297

issn

1537-6605

pii

AJHG980652

journal_volume

64

pub_type

杂志文章

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