ESR1 gene variants affect FSHR-depended risk of fibrocystic mastopathy in infertile women.

Q3 Medicine Experimental oncology Pub Date : 2021-09-01 DOI:10.32471/exp-oncology.2312-8852.vol-43-no-3.16468

A G Kornatska, Z I Rossokha, L Ye Fishchuk, O D Dubenko, N L Medvedieva, М А Flaksemberg, G V Chubei, O F Popova, N G Gorovenko

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引用次数: 2

Abstract

Background: The infertile women have an increased risk of developing benign and malignant tumors, in particular, breast cancer. Most studies have examined the role of gene variants in the risk of developing breast cancer, but there is little evidence of genetic risk factors for benign tumors.

Aim: To assess the combined genetic risk of developing mastopathy in women with FSHR (rs6165, rs6166) and ESR1 (rs9340799, rs2234693) gene variants.

Materials and methods: The study included 87 infertile women (45 with concomitant fibrocystic mastopathy and 42 without mastopathy).

Results: For rs9340799 and rs2234693 variants of the ESR1 gene, we did not find any significant differences in the distribution of genotypes in infertile women with or without mastopathy. In patients with mastopathy, there was a reliable increase in the frequency of 307Ala/Ala and 680Ser/Ser genotypes of FSHR gene (χ² = 6.39, p = 0.012, OR = 4.49 (1.48-13.65)) as compared to patients without mastopathy. In the presence of 307Thr/Thr and 680Asn/Asn genotypes of the FSHR gene, a 4.88-fold reduction of mastopathy risk (χ² = 8.06, p = 0.005, OR = 0.21(0.07-0.59)) was observed. The frequency of the FSHR and the ESR1 genotypes combinations - 307Thr/Thr+680Asn/Asn+351AG+397TC was significantly decreased in patients with mastopathy.

Conclusions: Our study did not find an association of ESR1 gene variants with the risk of developing of mastopathy in infertile women although heterozygous variants of the ESR1 gene enhanced the "protective" effect of FSHR gene variants and reduced the risk of mastopathy.

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ESR1基因变异影响不育妇女fshrr依赖的纤维囊性乳房病风险。

背景:不孕妇女患良性和恶性肿瘤的风险增加，尤其是乳腺癌。大多数研究都研究了基因变异在患乳腺癌风险中的作用，但很少有证据表明遗传因素会导致良性肿瘤。目的:评估FSHR (rs6165、rs6166)和ESR1 (rs9340799、rs2234693)基因变异女性发生乳腺病变的综合遗传风险。材料和方法:本研究纳入87例不孕妇女(伴有纤维囊性乳房病45例，无乳房病42例)。结果:对于ESR1基因的rs9340799和rs2234693变异，我们没有发现有或没有乳房病变的不孕妇女的基因型分布有显著差异。乳腺病变患者FSHR基因307Ala/Ala和680Ser/Ser基因型的频率较无乳腺病变患者明显增加(χ2 = 6.39, p = 0.012, OR = 4.49(1.48-13.65))。FSHR基因存在307Thr/Thr和680Asn/Asn基因型时，乳腺病变风险降低4.88倍(χ2 = 8.06, p = 0.005, OR = 0.21(0.07-0.59))。FSHR和ESR1基因型组合- 307Thr/Thr+680Asn/Asn+351AG+397TC的频率在乳腺病变患者中显著降低。结论:本研究未发现ESR1基因变异与不孕症女性发生乳房病变的风险相关，尽管ESR1基因的杂合变异增强了FSHR基因变异的“保护”作用，降低了乳房病变的风险。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Experimental oncology Medicine-Oncology

CiteScore

1.40

自引率

0.00%

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期刊介绍： The Experimental Oncology is an English-language journal that publishes review articles, original contributions, short communications, case reports and technical advances presenting new data in the field of experimental and fundamental oncology. Manuscripts should be written in English, contain original work, which has not been published or submitted for publication elsewhere. It also implies the transfer of the Copyright from the author to “Experimental Oncology”. No part of journal publications may be reproduced, stored in a retrieval system or transmitted in any form or by any means without the prior permission of the publisher.