Evidence map›Paper›PMID 12050823›Full record

ArticleAmerican journal of human genetics2002

A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.

Michael V Osier, Andrew J Pakstis, Himla Soodyall, David Comas, David Goldman, Adekunle Odunsi, Friday Okonofua, Josef Parnas, Leslie O Schulz, Jaume Bertranpetit and 4 more

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 3 pooled it
11.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

84 citing papers in PubMed, 3 syntheses or guidelines pooled it, 280 citations in OpenAlex.

  1. Pooled it
  2. Alcohol dehydrogenase-1B Arg47His polymorphism is associated with head and neck cancer risk in Asian: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015
    Pooled it
  3. Pooled it
  4. Trial
  5. Chronic Alcoholism and Propofol Demand: The Impact of Alcohol Tolerance in Painless Gastrointestinal Endoscopy.JGH open : an open access journal of gastroenterology and hepatology · 2025
    Article
  6. Global impact of micronutrients in modern human evolution.American journal of human genetics · 2025
    Article
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24 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 9 institutions in 6 countries.

Michael V OsierDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
Andrew J Pakstis
Himla Soodyall
David Comas
David Goldman
Adekunle Odunsi
Friday Okonofua
Josef Parnas
Leslie O Schulz
Jaume Bertranpetit
Batsheva Bonne-Tamir
Ru-Band Lu
Judith R Kidd
Kenneth K Kidd
Yale University · USPompeu Fabra University · ESNational Defense Medical Center · TWNational Institute on Alcohol Abuse and Alcoholism · USRoswell Park Comprehensive Cancer Center · USTel Aviv University · ILUniversity of Benin · NGUniversity of the Witwatersrand · ZAUniversity of Wisconsin–Milwaukee · US

Funding

CONTROLS FOR ASSOCIATION STUDIES OF ALCOHOLISMR01AA009379 · NIAAA · YALE UNIVERSITY · PI KIDD, KENNETH K. · 1992 to 2009
$2.7M
MOLECULAR GENETIC STUDIES ON ALCOHOLISM IN AMERICAN INDIANS--SOUTHWESTERN TRIBEZ01AA000281 · NIAAA · NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 1990 to 2008
$1.1M
PYRAZOLES AS AFFECTORS OF ALCOHOL DEHYDROGENASE AND CYTOCHROME P-450Z01AA000019 · NIAAA · ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 1988 to 2005
–
RELATIONSHIP OF CANDIDATE GENES AND ALLELES TO BEHAVIORZ01AA000302 · NIAAA · ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 2000 to 2006
–
NIAAA NIH HHS AA09379NIAAA NIH HHS R01 AA009379
6 · The paper itself

Abstract

Variants of different Class I alcohol dehydrogenase (ADH) genes have been shown to be associated with an effect that is protective against alcoholism. Previous work from our laboratory has shown that the two sites showing the association are in linkage disequilibrium and has identified the ADH1B Arg47His site as causative, with the ADH1C Ile349Val site showing association only because of the disequilibrium. Here, we describe an initial study of the nature of linkage disequilibrium and genetic variation, in population samples from different regions of the world, in a larger segment of the ADH cluster (including the three Class I ADH genes and ADH7). Linkage disequilibrium across approximately 40 kb of the Class I ADH cluster is moderate to strong in all population samples that we studied. We observed nominally significant pairwise linkage disequilibrium, in some populations, between the ADH7 site and some Class I ADH sites, at moderate values and at a molecular distance as great as 100 kb. Our data indicate (1) that most ADH-alcoholism association studies have failed to consider many sites in the ADH cluster that may harbor etiologically significant alleles and (2) that the relevance of the various ADH sites will be population dependent. Some individual sites in the Class I ADH cluster show Fst values that are among the highest seen among several dozen unlinked sites that were studied in the same subset of populations. The high Fst values can be attributed to the discrepant frequencies of specific alleles in eastern Asia relative to those in other regions of the world. These alleles are part of a single haplotype that exists at high (>65%) frequency only in the eastern-Asian samples. It seems unlikely that this haplotype, which is rare or unobserved in other populations, reached such high frequency because of random genetic drift alone.

Indexed as

Genetic VariationAlcohol DehydrogenaseAnimalsBase SequenceChromosome MappingDNAEvolution, MolecularGene FrequencyGenetics, PopulationHaplotypesHumansLinkage DisequilibriumMolecular Sequence DataMultigene FamilyPolymorphism, Single NucleotidePrimatesAlcohol DehydrogenaseDNA

Identifiers

PMID12050823
PMCPMC384995
OpenAlexW2146022716

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.