Article
Refined geographic distribution of the oriental ALDH2*504Lys (nee 487Lys) variant.
Annals of human genetics - 1 May 2009
Li Hui, Borinskaya Svetlana, Yoshimura Kimio, Kal'ina Nina, Marusin Andrey, Stepanov Vadim A, Qin Zhendong, Khaliq Shagufta, Lee Mi-Young, Yang Yajun, Mohyuddin Aisha, Gurwitz David, Mehdi Syed Qasim, Rogaev Evgeny, Jin Li, Yankovsky Nikolay K, Kidd Judith R, Kidd Kenneth K
Abstract excerpt
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,...
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