Abstracts

Human Genome Diversity

The insertion-deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene has been studied mostly because it is associated with cardiovascular pathologies. Most studies were carried out in Western Europe and countries of South-Eastern Asia, such as Japan, China, Korea and some others. At the same time, the population distribution of the ACE gene I/D allelic variants remains practically unexplored in the vast territory of Central and North-Eastern Asia, including Russia. This paper is aimed at the estimation of the frequency of the ACE gene I/D genotypes and alleles in some ethnic groups of Asian part of Russia. The total number of genotyped individuals was 516. They were members of 11 different ethnic groups. The frequency of the genotypes and alleles of the ACE gene in Caucasians were determined in the Novosibirsk city population, a large industrial center of Western Siberia, within the framework of the WHO MONICA project. The frequency of II, ID and DD men genotypes were 22%, 52% and 26%, respectively, and the D allele frequency was 52%. The genotypes were in the Hardy-Weinberg equilibrium. The frequencies observed are close to those described for most West European populations. In contrast to Caucasians, all the Mongoloid populations studied were characterized by the predominance of I allele, the frequency of which steadily increased in the Eastern direction. The frequency was 53.1%, 57.2%, and 64.8% in the ethnic groups of Central Asia, including the natives of the Mountainous Altai region (n=80), Kazakhs (n=62), and Tuvinians (n=74), respectively. Further to the East the frequency of this allele reached 64.0%, 66.6% and 78.7% in Nanaitci (n=96), Nivkhs (n=33), and Koriaks (n=40) respectively. Unexpectedly high prevalence of I allele was also observed in West-Siberian natives belonging to the Ugrean branch of the Finno-Ugrean language family (69.1% in Khants (n=34) and 80.0% in Mansi (n=25)). At the same time its frequency in small group of representatives of the Finnic branch of this language family, including Mordvinians and Komis, was much lower (53.3%). The frequencies of the genotypes in all the ethnic groups studied were in the Hardy–Weinberg equilibrium. This work has received financial support from the Russian Basic Research Foundation (Grant № 99-04-49727 and № 01-04-06067).

Note. Abstracts are published in author's edition

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