Use of large-scale sample collections to estimate the carriage rate of miscarriage-related variants

Aim. Modern large-scale biocollections and related open databases play a critical role in the development and implementation of novel approaches to prevention and diagnostics, as well as in improvement of treatment of hereditary pathologies. The aim of this study was to analyze the carriage rate of miscarriage-related variants in the Russian population presented in the RUseq database.

Material and methods. The first Russian open database of genetic variants and their rate in the Russian population (RUSeq) was used as the main source of information on allele frequencies. We analyzed 270 known genetic variants described as a cause of miscarriage. A search for pathogenic variants in 18 key miscarriage-related genes was conducted.

Results. We revealed that 10 out of 270 variants described as a miscarriage cause are found in the Russian population. In addition, 46 known or new potentially pathogenic variants were found in 10 key genes that are possible markers of miscarriage risk. In one case (NEB gene), the cumulative frequency of such variants exceeded 0,5%.

Conclusion. The obtained results emphasize the importance of genetic databases and the need for further study of miscarriage-realted gene disorders, as well as the inclusion of identified variants in preconception genetic testing programs for couples in order to determine pregnancy planning and management.

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