FTO gene polymorphism (rs9939609) in the indigenous populations of the North of Western Siberia

Abstract

Introduction. Expanding and refining the gene-geographic pattern of FTO (rs9939609) is a urgent task, as A*FTO allele is associated with an increased risk of obesity, type 2 diabetes and coronary heart disease. Accumulating data on FTO allele frequencies in population groups with different traditional nature management and dietary patterns is also important.

Study objective: to characterize the frequency distribution of A*FTO (rs9939609) allele in indigenous populations of northern Western Siberia.

Materials and methods. The total sample (N=171) included Northern Khanty (N=90), Sosva Mansi (N=31), and Yamal
Nenets (N=50). Genotyping of genomic DNA isolated from blood samples was performed for FTO rs9939609.

The results demonstrate similar allele and genotype frequencies across the West Siberian samples. The average frequency of *A allele in northern Western Siberian populations is 0.377. The frequencies of *A allele and AA*FTO genotype were not significantly different between individuals from different ethnic samples (Khanty, Mansi, and Nenets), p>0.05.

Discussion. The studied groups are characterized by a low carriage rate of risk variants of the FTO rs9939609 polymorphism. Khanty, Mansi, and Yamal Nenets samples do not differ in the frequencies of A* allele and AA*FTO genotype and are close to those described in the Taz Nenets (Baturin et al., 2017), Kalmyks, and Mongols, although they are significantly (p<0.05) lower than in the Altaians and Russians (Bondareva et al., 2018).

Conclusion. The distribution of A*FTO allele in our samples corresponds to the Hardy-Weinberg equilibrium, while the Spearman's rank correlations between the population frequencies of FTO genotypes with the geographic latitude and climatic characteristics of the 16 Eurasian regions do not reach the significance level (p>0.2). It can be assumed that FTO rs9939609 is not involved in the high-latitude adaptation in modern populations.

The specific distribution of alleles and genotypes of FTO rs9939609 in populations of different racial groups and adaptive types requires expanding the geographic coverage and involving extensive material.

Acknowledgements. The study was conducted under the state assignment of Lomonosov Moscow State University (Vasileva A.A., Kozlov A.I., Vershubskaya G.G.) and the State assignment of Research Center for Medical Genetics.

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