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Golovchenko I.O.

Belgorod State National Research University

Ponomarenko I.V.

Belgorod State National Research University

Orlova V.S.

Belgorod State National Research University

Batlutskaya I.V.

Belgorod State National Research University

Efremova O.A.

Belgorod State National Research University

Churnosov M.I.

Belgorod State National Research University

The role of polymorphism rs148982377 of the ZNF789 gene in the formation of infertility in patients with endometriosis

Authors:

Golovchenko I.O., Ponomarenko I.V., Orlova V.S., Batlutskaya I.V., Efremova O.A., Churnosov M.I.

More about the authors

Journal: Russian Journal of Human Reproduction. 2024;30(1): 64‑71

DOI: 10.17116/repro20243001164

Views: 616

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Table of contents

To cite this article:

Golovchenko IO, Ponomarenko IV, Orlova VS, Batlutskaya IV, Efremova OA, Churnosov MI. The role of polymorphism rs148982377 of the ZNF789 gene in the formation of infertility in patients with endometriosis. Russian Journal of Human Reproduction. 2024;30(1):64‑71. (In Russ.)
https://doi.org/10.17116/repro20243001164

Подписка 2025 (Russian Journal of Human Reproduction)
 
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INTRODUCTION

One of the most common clinical manifestations of endometriosis is infertility, in the formation of which genetic factors may be involved.

OBJECTIVE

The aim of the study was to evaluate the role of polymorphic loci of sex hormone genes in the formation of infertility in patients with endometriosis.

MATERIALS AND METHODS

The sample for the study included 132 patients with endometriosis with infertility and 263 patients with endometriosis without infertility. Genotyping of 9 SNPs specially selected for this study was performed according to their relationship with the level of sex hormones in women in previously conducted genome-wide studies. The analysis of the association of polymorphism with the risk of infertility in women with endometriosis was carried out by the method of logistic regression in the gPLINK program.

RESULTS

The association with infertility in patients with endometriosis of polymorphism rs148982377 of the ZNF789 gene has been established. The allele C rs148982377 is a protective factor for the formation of infertility in patients with endometriosis (OR=0.45, pperm=0.05). The genetic marker rs148982377 of the ZNF789 gene has significant functional effects, it is localized in the region of histones marking enhancers/promoters, the DNase-hypersensitive site, in the TF-binding domain for 2 transcription factors (TF3 and Bach1), is associated with alternative splicing of the GPC2 gene and expression of three genes (GS1-259H13.2, ZKSCAN5, CYP3A7).

CONCLUSIONS

Polymorphism rs148982377 of the ZNF789 gene is associated with the development of infertility in endometriosis.

Keywords:

endometriosis
infertility
polymorphism
associations
rs148982377
ZNF789
sex hormones

Authors:

Golovchenko I.O.

Belgorod State National Research University

Ponomarenko I.V.

Belgorod State National Research University

Orlova V.S.

Belgorod State National Research University

Batlutskaya I.V.

Belgorod State National Research University

Efremova O.A.

Belgorod State National Research University

Churnosov M.I.

Belgorod State National Research University

Received:

10.03.2023

Accepted:

11.04.2023

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