1. Hereditary risk factors for uterine leiomyoma: a search for marker SNPs
- Author
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K.A. Svirepova, E.A. Lolomadze, N.D. Mishina, A E Donnikov, G.V. Mikhailovskaya, Maria Kuznetsova, D.V. Zelensky, N.S. Sogoyan, and D. Yu. Trofimov
- Subjects
0301 basic medicine ,Uterine leiomyoma ,Single-nucleotide polymorphism ,General Medicine ,Biology ,medicine.disease ,female genital diseases and pregnancy complications ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Germline mutation ,Leiomyoma ,030220 oncology & carcinogenesis ,medicine ,Cancer research - 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.
- Published
- 2020