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Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant

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Author(s)
Hui LiSvetlana BorinskayaKimio YoshimuraNina Kal’inaAndrey MarusinVadim A. StepanovZhendong QinShagufta KhaliqMi-Young LeeYajun YangAisha MohyuddinDavid GurwitzSyed Qasim MehdiEvgeny RogaevLi JinNikolay K. YankovskyJudith R. KiddKenneth K. Kidd
Publication Year
2009
Abstract
Mitochondrial aldehyde dehydrogenase (ALDH2) is one of the most important enzymes in human alcohol metabolism.
The oriental ALDH2

504Lys variant functions as a dominant negative, greatly reducing activity in heterozygotes and
abolishing activity in homozygotes. This allele is associated with serious disorders such as alcohol liver disease, late
onset Alzheimer disease, colorectal cancer, and esophageal cancer, and is best known for protection against alcoholism.
Many hundreds of papers in various languages have been published on this variant, providing allele frequency data for
many different populations. To develop a highly refined global geographic distribution of ALDH2

504Lys,wehave
collected new data on 4,091 individuals from 86 population samples and assembled published data on a total of 80,691
individuals from 366 population samples. The allele is essentially absent in all parts of the world except East Asia.
The ALDH2

504Lys allele has its highest frequency in Southeast China, and occurs in most areas of China, Japan,
Korea, Mongolia, and Indochina with frequencies gradually declining radially from Southeast China. As the indigenous
populations in South China have much lower frequencies than the southern Han migrants from Central China, we
conclude that ALDH2

504Lys was carried by Han Chinese as they spread throughout East Asia. Esophageal cancer,
with its highest incidence in East Asia, may be associated with ALDH2

504Lys because of a toxic effect of increased
acetaldehyde in the tissue where ingested ethanol has its highest concentration. While the distributions of esophageal
cancer and ALDH2

504Lys do not precisely correlate, that does not disprove the hypothesis. In general the study of
fine scale geographic distributions of ALDH2

504Lys and diseases may help in understanding the multiple relationships
among genes, diseases, environments, and cultures.
Department
Dept. of Preventive Medicine (예방의학)
Publisher
School of Medicine
Citation
Annals Human Genetic, Vol.73(3) : 335-345, 2009
Type
Article
ISSN
0003-4800
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/34974
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