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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
The evolution and population genetics of the ALDH2 locus: Random genetic drift, selection, and low levels of recombination
Annals of Human Genetics, Volume 68, No. 2, Year 2004
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Description
The catalytic deficiency of human aldehyde dehydrogenase 2 (ALDH2) is caused by a nucleotide substitution (G1510A; Glu487Lys) in exon 12 of the ALDH2 locus. This SNP, and four non-coding SNPs, including one in the promoter, span 40 kb of ALDH2; these and one downstream STRP have been tested in 37 worldwide populations. Only four major SNP-defined haplotypes account for almost all chromosomes in all populations. A fifth haplotype harbours the functional variant and is only found in East Asians. Though the SNPs showed virtually no historic recombination, LD values are quite variable because of varying haplotype frequencies, demonstrating that LD is a statistical abstraction and not a fundamental aspect of the genome, and is not a function solely of recombination. Among populations, different sets of tagging SNPs, sometimes not overlapping, can be required to identify the common haplotypes. Thus, solely because haplotype frequencies vary, there is no common minimum set of tagging SNPs globally applicable. The Fst values of the promoter region SNP and the functional SNP were about two S.D. above the mean for a reference distribution of 117 autosomal biallelic markers. These high Fst values may indicate selection has operated at these or very tightly linked sites. © University College London 2004.
Authors & Co-Authors
Oota, Hiroki
United States, New Haven
Yale School of Medicine
Pakstis, Andrew J.
United States, New Haven
Yale School of Medicine
Bonné-Tamir, Batsheva T.
Israel, Tel Aviv-yafo
Tel Aviv University
Goldman, David A.
United States, Bethesda
National Institute on Alcohol Abuse and Alcoholism Niaaa
Grigorenko, Elena L.
United States, New Haven
Yale University
Kajuna, Sylvester L.B.
Tanzania, Dar es Salaam
Hubert Kairuki Memorial University
Karoma, Nganyirwa J.
Tanzania, Dar es Salaam
Hubert Kairuki Memorial University
Kungulilo, Selemani
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Lu, Ru-Band Band
Taiwan, Taipei
Triservice General Hospital Taiwan
Odunsi, Kunle O.
United States, Buffalo
Roswell Park Cancer Institute
Okonofua, Friday Ebhodaghe
Nigeria, Benin
University of Benin
Zhukova, Olga V.
Russian Federation, Moscow
Vavilov Institute of General Genetics, Russian Academy of Sciences
Kidd, Judith R.
United States, New Haven
Yale School of Medicine
Kidd, Kenneth K.
United States, New Haven
Yale School of Medicine
Statistics
Citations: 148
Authors: 14
Affiliations: 10
Identifiers
Doi:
10.1046/j.1529-8817.2003.00060.x
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study