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The distribution of the CFTR gene variants in a number of populations and ethnic groups of the Russian Federation was studied

Frontiers Genetics (Impact Factor 4.599) published an article by the team of the FSBI RCMG Genetic Epidemiology Laboratory (head of the laboratory, prof. R.A. Zinchenko, Dr.Med.Sc.,). The article discusses the results of a study of the CFTR gene variants distribution in a number of populations and ethnic groups of the Russian Federation. An extensive sample of healthy unrelated individuals from 15 populations was analyzed: Russians from Rostov, Tver, Pskov, and Kirov regions; representatives of five indigenous peoples of the Volga-Ural region (Udmurts, Mari, Chuvash, Tatars, and Bashkirs) and six ethnic groups of the North Caucasus region (Karachays, Nogais, Circassians, Abazins, Ossetians, and Chechens).

The frequency of the F508del mutation in Russians averaged 0.0056, varying in different regions from 0.0027 in the Pskov population to 0.0069 in the Rostov population. The three variants W1282X, 1677delTA, and F508del were detected in the samples from the North Caucasus populations: in Karachays - the frequency of the W1282X variant is 0.0092, the 1677delTA variant is 0.0032. In Nogais - the frequency of mutations W1282X is 0,0127, the frequency of mutations F508del and 1677delTA is 0.0098 and 0.0098 in the Circassian population, mutations F508del, W1282X and 1677delTA – 0.0039, 0.0039 and 0,.0117 in the Abazins population. In the indigenous peoples of the Volga-Ural region, the maximum frequency of the F508del mutation was detected in the Tatar population (0.099), whereas in the Mari and Bashkir populations this mutation was not detected at all. The E92K variant was detected in the Chuvash and Tatar populations. Thus, interethnic differences in the spectrum of CFTR gene variants are typical not only for cystic fibrosis patients, but also for healthy individuals from European and North Caucasian regions of Russia.

Petrova N.V., Balinova N.V., Marakhonov A.V., Vasilyeva T. A., Kashirskaya N., Galkina V. A., Ginter E.K., Kutsev S.I., Zinchenko R. A. Ethnic differences in the frequency of CFTR gene mutations in populations of the European and North Caucasian part of the Russian Federation. Frontiers Genetics. 2021, 12, 16 June 2021. https://doi.org/10.3389/fgene.2021.678374

https://www.frontiersin.org/articles/10.3389/fgene.2021.678374/full