Summary 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 , we have 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.

Hui Li

Svetlana Borinskaya

Kimio Yoshimura

Nina Kal’ina

Andrey Marusin

Vadim A. Stepanov

Zhendong Qin

Shagufta Khaliq

Mi‐Young Lee

Yajun Yang

Aisha Mohyuddin

David Gurwitz

Syed Qasim Mehdi

Evgeny Rogaev

Li Jin

Nikolay K. Yankovsky

Judith R. Kidd

Kenneth K. Kidd

Annals of Human Genetics

人类遗传学年鉴出版与人类遗传学或科学原理和技术在人类遗传任何方面的应用直接相关的材料。还将考虑描述可能与人类遗传学相关的其他物种的工作的论文。数学模型应尽可能包括数据应用示例。欢迎作者提交支持信息，例如数据集或其他图形或表格，这些信息不会在期刊的印刷版中发布，但可通过在线版本并存储在网站上。

The Annals of Human Genetics publishes research materials directly related to human genetics and the application of scientific principles and techniques in any aspect of human genetics. We also welcome papers describing work related to other species that may be relevant to human genetics. All mathematical models should include examples of data applications whenever possible. Authors are encouraged to submit supporting information, such as datasets or other graphics and tables, which will not be published in the print version of the journal but will be made available in the online version and stored on our website.

《Annals of Human Genetics》期刊出版与人类遗传学及其在各个领域的应用相关的研究材料。我们也欢迎与其他物种相关的研究论文，这些研究可能对人类遗传学有启发。所有数学模型应尽量包含数据应用的实例。我们鼓励作者提交支持性信息，例如数据集、图形或表格，这些信息将不会在期刊的印刷版中发布，但会在在线版本中提供，并存储在我们的网站上。

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

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.

东方ALDH2*504Lys（原名487Lys）变异体的精细地理分布

Category	Quartile
生物学	4
生物学, 遗传学	4

Refined Geographic Distribution of the Oriental ALDH2504Lys* (nee 487Lys) Variant

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4