Familial predisposition to uterine leiomyoma: searching for genetic factors that increase the risk of leyomyoma development

Sogoyan N.S.; Kuznetsova M.V.; Donnikov A.E.; Mishina N.D.; Mikhailovskaya G.V.; Shubina E.S.; Zelensky D.V.; Mullabaeva S.M.; Adamyan L.V.

doi:https://doi.org/10.17116/repro20202605151

Sogoyan N.S.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Kuznetsova M.V.

Vagner Perm State Medical University

Donnikov A.E.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Mishina N.D.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Mikhailovskaya G.V.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Shubina E.S.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Zelensky D.V.

Kursk City Clinical Perinatal Center

Mullabaeva S.M.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Adamyan L.V.

Moscow State Medical and Dental University named after A.I. Evdokimov

SPIN RSCI: 9836-2713
Scopus AuthorID: 7006372422
ResearcherID: Q-1722-2018
ORCID: 0000-0002-3253-4512

Familial predisposition to uterine leiomyoma: searching for genetic factors that increase the risk of leyomyoma development

Authors:

Sogoyan N.S., Kuznetsova M.V., Donnikov A.E., Mishina N.D., Mikhailovskaya G.V., Shubina E.S., Zelensky D.V., Mullabaeva S.M., Adamyan L.V.

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Journal: Russian Journal of Human Reproduction. 2020;26(5): 51‑57

DOI: 10.17116/repro20202605151

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To cite this article:

Sogoyan NS, Kuznetsova MV, Donnikov AE, et al. Familial predisposition to uterine leiomyoma: searching for genetic factors that increase the risk of leyomyoma development. Russian Journal of Human Reproduction. 2020;26(5):51‑57. (In Russ.)
https://doi.org/10.17116/repro20202605151

Подписка 2026 Проблемы репродукции (Russian Journal of Human Reproduction)

Использование инфографики авторами научных работ

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OBJECTIVE

Improving the effectiveness of early diagnosis and prediction of the risk of development and recurrence of uterine leiomyoma by searching for genetic markers of the development of this disease.

MATERIAL AND METHODS

Patients underwent hysterectomy or myomectomy for symptomatic uterine myoma. Individual fibroids and blood of all patients were collected during the surgery. DNA extraction and genotyping of six loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, rs17677069) of the ESR1, FBN2, CELF4, KCWMB2 genes for research the candidate genes.

MEASUREMENTS AND MAIN RESULTS

We analyzed a group of patients with a family history of UL and a control group without uterine myomas and a familial predisposition to this pathology. Six significant single nucleotide polymorphisms (SNPs) were selected for PCR-genotyping of a large data set of patients with UL. All investigated loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, rs17677069) demonstrated the lower frequency of minor alleles within a group of women with UL, especially in a subgroup consisting of patients with UL and a family history of leiomyomata. We also found that minor allele frequency of these SNPs in our control group was higher than among Caucasian population.

CONCLUSION

Obtained results clearly demonstrated the role of inheritance in the process of developing UL. Rare alleles of all six investigated polymorphisms were significantly often detected in a control group consisting of postmenopausal women without UL and women with a family history of this pathology. We assumed that as a result of the study, a specific SNP panel will be developed that will allow us to assess the risk of development and recurrence of uterine leiomyoma.

Keywords:

uterine leiomyoma

GWAS

SNP-genotyping

reccurence

MED12

Authors:

Sogoyan N.S.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Kuznetsova M.V.

Vagner Perm State Medical University

Donnikov A.E.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Mishina N.D.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Mikhailovskaya G.V.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Shubina E.S.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Zelensky D.V.

Kursk City Clinical Perinatal Center

Mullabaeva S.M.

Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

Adamyan L.V.

Moscow State Medical and Dental University named after A.I. Evdokimov

SPIN RSCI: 9836-2713
Scopus AuthorID: 7006372422
ResearcherID: Q-1722-2018
ORCID: 0000-0002-3253-4512

Received:

13.02.2020

Accepted:

15.04.2020

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