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Hereditary risk factors for uterine leiomyoma: a search for marker SNPs

Authors :
K.A. Svirepova
E.A. Lolomadze
N.D. Mishina
A E Donnikov
G.V. Mikhailovskaya
Maria Kuznetsova
D.V. Zelensky
N.S. Sogoyan
D. Yu. Trofimov
Source :
Bulletin of Russian State Medical University. :27-33
Publication Year :
2020
Publisher :
Pirogov Russian National Research Medical University, 2020.

Abstract

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.

Details

ISSN :
25421204 and 25001094
Database :
OpenAIRE
Journal :
Bulletin of Russian State Medical University
Accession number :
edsair.doi...........5ca980313d5562abdc4efd403b045f69