The influence of the genetic structure on the values of the load and diversity of hereditary ophthalmopathology in the populations of the Russian Federation

Objective: to study the influence of the genetic structure on the values of the load and diversity of isolated hereditary diseases of the visual organ (HPOV) and included in the hereditary syndromes and diseases in the populations of the Russian Federation.

Methods: the analyzed sample is represented by 17 populations (12 ethnic groups from 14 regions of the European part of the Russian Federation), the number of the surveyed population is about 4 million. People: Russians from 6 regions of the Russian Federation (Kirov, Kostroma, Tver, Bryansk, Rostov regions and Krasnodar Krai), five ethnic groups from the Volga-Ural region (Tatars from Tatarstan, Bashkirs from Bashkortostan, Mari from Mari El, Chuvash from Chuvashia, Udmurts from Udmurtia) and six peoples of the North Caucasus (Ossetians from North Ossetia, Adygeans from Adygea, Abazines, Circassians, Nogais, and Karachays from Karachay-Cherkessia). Data on random inbreeding (Fst) and migration index (MI), accumulation coefficient (AC) in the same surveyed populations were used to assess the role of drift in the genetic differentiation of populations according to the load and diversity of HDOV.

Results: The clearest dependence and higher correlation coefficients were obtained by analyzing the relationship between the total values of the load of the HPOV) (isolated hereditary ophthalmopathology and included in hereditary syndromes and diseases) from the values of random inbreeding FST in the populations of the Russian Federation: for the total HPOV with the AD type of inheritance, the correlation coefficient was 0.616±0.204, 0.687±0.194 for AR and 0.581±0.218 for X-linked. The analysis of the relationship between MI and the burden of the HPOVshowed low correlation coefficients for AR and X-linked diseases in all the groups under consideration, and significant for the group with AD type of inheritance in all the groups under consideration: isolated (-0.612±0.211), syndromic (-0.497±0.232) and total (-0.577±0.218). The analysis of the regression relationship between the AC for populations and the values of FST and MI showed high and significant correlation coefficients (r= 0.842±0.163 and r= – 0.672±0.262, respectively).

Conclusions. Asaresult of the analysis of the dependence of the burden and the diversity of the HPOV on the parameters of the genetic structure, it is shown that the main factors in the dynamics of the gene pool, which most determines the differentiation of Russian populations by burden and by the diversity of the HPOV, as well as causing the local accumulation of individual hereditary diseases with damage to the organ of vision in the examined populations, are gene drift, subdivision populations and migration characteristics.

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