Design of method for detecting single nucleotide polymorphisms of DNA non-coding region rs17185536: potential diagnostic value

A large-scale study of DNA sequencing databases (Jorgenson E., et al., 2018) to search for hereditary susceptibility to early erectile dysfunction revealed an association with the rs17185536-T polymorphism regulating the expression of topologically associating domain, among which is the SIM1 gene, which plays an important role in maintaining mass body and sexual function. The proximity of the rs17185536 locus to the CCNC (cyclin C), PRDM13 (histone methyltransferase) and USP45 (ubiquitin-specific peptidase 45) genes suggests the possible involvement of this polymorphism in the pathogenesis and other diseases associated with impairments of these genes.

Materials and methods. The study included a total of 280 people: 81 of which were healthy donors, 116 pregnant women, 25 patients with polycythemia vera, 29 with essential thrombocythemia, and 29 with primary myelofibrosis.

Results. Using the original method of determining the polymorphism rs17185536, the allele of specific PCR-RT showed that the prevalence of the T allele among all examined patients was 19 %, and variants of the genotypes: C/C with 73 %, C/T with 23 % and T/T with 4 %, which corresponds to Winkler e. a. data. The absence of statistically significant differences in the frequency of occurrence of this polymorphism in the pathology of pregnancy and in chronic myeloproliferative diseases indicates a low probability of involvement of rs17185536-T in the pathogenesis of these diseases. In the group of pregnant women, there is an association of the rs17185536-T allele with obesity, uterine fibroids and the development of preeclampsia.

Conclusions. For the first time, using the original method of analysis, it was confirmed that the Russian population has a comparable prevalence of the gene of hereditary susceptibility to impotence. Despite the topographic proximity of the rs17185536 locus to the genes regulating the repair and functioning of DNA, its polymorphisms do not affect the risk of chronic myeloproliferative diseases developing. The association of the rs17185536-T allele with the risk of developing a pregnancy pathology requires further study.

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