A study of polymorphisms rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, and rs17677069 in women with uterine leiomyomas and a family history of the disease


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Abstract

Objective. To optimize diagnosis, patient management tactics and to predict the risk of recurrence, by searching for genetic markers for uterine f ibroids. Subjects and methods. The investigators collected tissue specimens from 329 uterine myomas and blood aliquots from 106 study group patients and 24 blood samples from control group patients. They isolated DNA, amplified exon 2 of the MED 12 gene and genotyped single nucleotide polymorphisms (SNP) (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, and rs17677069) by six ESR1, FBN2, CELF4, and KCWMB2 loci. Results and discussion. Statistical analysis showed that the frequencies of rare alleles of the SNP rs3020434, rs11742635, rs2861221, and rs176069 were lower among women with uterine fibroids and practically did not occur in the group of patients with a positive family history as compared with the controls and the general population, which can probably suggest that these alleles play a protective role; therefore, it is possible to use them as markers for predicting the probability of development and recurrence of uterine fibroids. Conclusion. The rare alleles of the gene polymorph isms rs3020434, rs11742635, rs2861221, and rs17677069 are not found in the groups with a positive family history, which is likely to allow them to be used in the future for a comprehensive diagnosis of the probability of developing uterine f ibroids, as well as for predicting the risk of recurrence.

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About the authors

N. S Sogoyan

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: sogoyan.n@mail.ru
resident of Academician 19997, Russia, Moscow, Ac. Oparina str. 4

M. V Kuznetsova

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: mkarja@mail.ru
PhD, research scientist, laboratory of molecular-genetic methods 19997, Russia, Moscow, Ac. Oparina str. 4

E. A Lolomadze

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: 6332424@gmail.com
biologist, laboratory for genome editing 19997, Russia, Moscow, Ac. Oparina str. 4

G. V Mikhailovskaya

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: galinavalkuz@mail.ru
biologist, Department of clinical and molecular genetics 19997, Russia, Moscow, Ac. Oparina str. 4

N. D Mishina

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: mis7ha@gmail.com
junior researcher, Department of clinical and molecular genetics 19997, Russia, Moscow, Ac. Oparina str. 4

D. Yu Trofimov

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

DSci, professor RAS, Head of Laboratory of molecular-genetic methods 19997, Russia, Moscow, Ac. Oparina str. 4

L. V Adamyan

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: l_adamyan@oparina4.ru
Academician of RAS, MD, PhD, Professor RAS, Honored Master of Science of the Russian Federation, Head Specialist in Obstetrics and Gynecology of Ministry of Healthcare of Russia, Head of the Department of Surgical Gynecology 19997, Russia, Moscow, Ac. Oparina str. 4

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