The evolution and population genetics of the ALDH2 locus: random genetic drift, selection, and low levels of recombination

@article{Oota2004TheEA,
  title={The evolution and population genetics of the ALDH2 locus: random genetic drift, selection, and low levels of recombination},
  author={Hiroki Oota and Andrew J. Pakstis and Batsheva Bonn{\'e}‐Tamir and David Goldman and Elena L. Grigorenko and Sylvester L. B. Kajuna and Nganyirwa J Karoma and Selemani Kungulilo and R B Lu and Kunle Odunsi and Friday E. Okonofua and Olga Valerevna Zhukova and Judith R. Kidd and Kenneth K. Kidd},
  journal={Annals of Human Genetics},
  year={2004},
  volume={68}
}
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… 
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Single nucleotide polymorphisms of the ALDH2 gene in six Indian populations
TLDR
The small number of haplotypes in this region is suggesting the strong linkage disequilibrium across the region and confirms the global long-range linkage diseqilibrium around the ALDH2 locus.
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Origin and Spread of the ALDH2 Glu504Lys Allele
TLDR
The origin, selection, and spread of the AL DH2 Glu504Lys allele are discussed, and an outlook for further research is proposed to realize a precision medical strategy based on the genetic and environmental variations in ALDH2.
Origin and dispersal of atypical aldehyde dehydrogenase ALDH2487Lys.
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dbQSNP: A database of SNPs in human promoter regions with allele frequency information determined by single‐strand conformation polymorphism‐based methods
TLDR
A fraction of the SNPs revealed a significantly different allele frequency between the groups, suggesting differential selection of the genes involved and the need for population‐based collections and allele frequency determination of SNPs, in, e.g., association studies of diseases.
Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant
TLDR
It is concluded that ALDH2*504Lys was carried by Han Chinese as they spread throughout East Asia, and occurs in most areas of China, Japan, Korea, Mongolia, and Indochina with frequencies gradually declining radially from Southeast China.
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