ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Hereditary risk factors for uterine leiomyoma: a search for marker SNPs
About authors
1 Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
2 Valuyki Central Hospital, Valuyki, Russia
Correspondence should be addressed: Ksenia A. Svirepova
Akademika Oparina, 4, Moscow, 117997; ur.xednay@iwsesk
About paper
Funding: this study was part of the State Assignment (2019) on the Improved management of patients with benign reproductive system neoplasms with hi-tech diagnostic imaging techniques and molecular panels for predicting the progression and relapse of the disease.
Compliance with ethical standards: the study was approved by the Ethics Committee of Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology. Informed consent was obtained from all participants.
Author contribution: Svirepova KA analyzed the literature, carried out the research and wrote the manuscript with input from all authors; Kuznetsova MV carried out the research and wrote the manuscript with input from all authors; Sogoyan NS collected tissue samples and documented them in the biobank’s register; Zelensky DV collected tissue samples for research; Lolomadze EA, Mikhailovskaya GV helped with the laboratory part of the research; Mishina ND performed statistical analysis; Donnikov AE, Trofimov DYu supervised the study and revised the manuscript.
Received: 2020-02-05
Accepted: 2020-02-19
Published online: 2020-02-29
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Uterine leiomyomas are a worrying reproductive health issue that has serious social implications. The aim of this study was to conduct a search for marker single nucleotide polymorphisms (SNPs) associated with uterine leiomyoma. To test the hypothesis about the contribution of genetic predisposition to the pathogenesis of myomas, the initial group of 100 patients with a verified diagnosis of uterine leiomyoma was divided into 2 subgroups: subgroup Ia (women with a family history of the disease) and subgroup 1b (women with no family history of the disease). The control group consisted of 30 postmenopausal patients who did not have a medical history of uterine fibroids and denied uterine fibroids in their close female relatives. DNA sequences were read using Sanger sequencing. Statistically significant differences (p < 0.05) were discovered between the analyzed groups in terms of genotype frequencies for rs12637801 and rs12457644. Also, previously unknown protective SNPs were identified whose rare alleles could predict the reduced risk of uterine leiomyomas.
Keywords: single nucleotide polymorphism, somatic mutation, leiomyoma