Genetic determinants of sex hormone levels in endometriosis patients [Ссылка на источник: Golovchenko IO. Genetic determinants of sex hormone levels in endometriosis patients. Research Results in Biomedicine

RESEARCH RESULTS IN BIOMEDICINE Pub Date : 2023-03-27 DOI:10.18413/2658-6533-2023-9-1-0-1

I. Golovchenko

{"title":"Genetic determinants of sex hormone levels in endometriosis patients [Ссылка на источник: Golovchenko IO. Genetic determinants of sex hormone levels in endometriosis patients. Research Results in Biomedicine","authors":"I. Golovchenko","doi":"10.18413/2658-6533-2023-9-1-0-1","DOIUrl":null,"url":null,"abstract":"Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. With endometriosis, there is a pronounced hormonal imbalance in the sex hormones both in the lesion and in the body of the sick woman as a whole. The aim of the study:To study the associations of polymorphism of sex hormone genes with the hormonal profile of patients with endometriosis. Materials and methods: The study group included 103 patients with endometriosis, in whom the levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone) were studied. The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out (rs148982377 ZNF789, rs34670419 ZKSCAN5, rs11031002 and rs11031005 FSHB, rs112295236 SLC22A10, rs117585797 ANO2, rs117145500 CHD9, rs727428 SHBG, rs1641549 TP53). The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: In patients with endometriosis, the serum estradiol level is associated with polymorphic loci rs148982377 ZNF789 (β=-0.488 - -0.445, pperm≤0.050) and rs34670419 ZKSCAN5 (β=-0.544 - -0.449, pperm≤0.050), luteinizing hormone – rs117585797 ANO2 (β= 0.618 - 0.709, pperm≤0.050), progesterone – rs117145500 CHD9 (β=0.365 - 0.429, pperm<0.050), prolactin – rs1641549 TP53 (β=-0.306 - -0.218, pperm<0.050), testosterone – rs148982377 ZNF789 and rs34670419 ZKSCAN5 (β=0.492, pperm=0.050). Conclusion: Associations of candidate gene polymorphism with the level of sex hormones in patients with endometriosis have been established.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"RESEARCH RESULTS IN BIOMEDICINE","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18413/2658-6533-2023-9-1-0-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 3

Abstract

Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. With endometriosis, there is a pronounced hormonal imbalance in the sex hormones both in the lesion and in the body of the sick woman as a whole. The aim of the study:To study the associations of polymorphism of sex hormone genes with the hormonal profile of patients with endometriosis. Materials and methods: The study group included 103 patients with endometriosis, in whom the levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone) were studied. The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out (rs148982377 ZNF789, rs34670419 ZKSCAN5, rs11031002 and rs11031005 FSHB, rs112295236 SLC22A10, rs117585797 ANO2, rs117145500 CHD9, rs727428 SHBG, rs1641549 TP53). The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: In patients with endometriosis, the serum estradiol level is associated with polymorphic loci rs148982377 ZNF789 (β=-0.488 - -0.445, pperm≤0.050) and rs34670419 ZKSCAN5 (β=-0.544 - -0.449, pperm≤0.050), luteinizing hormone – rs117585797 ANO2 (β= 0.618 - 0.709, pperm≤0.050), progesterone – rs117145500 CHD9 (β=0.365 - 0.429, pperm<0.050), prolactin – rs1641549 TP53 (β=-0.306 - -0.218, pperm<0.050), testosterone – rs148982377 ZNF789 and rs34670419 ZKSCAN5 (β=0.492, pperm=0.050). Conclusion: Associations of candidate gene polymorphism with the level of sex hormones in patients with endometriosis have been established.

查看原文本刊更多论文

子宫内膜异位症患者性激素水平的遗传决定因素[Ссылка на источник: Golovchenko IO。子宫内膜异位症患者性激素水平的遗传决定因素。生物医学研究成果

背景:子宫内膜异位症是一种慢性激素依赖性炎症性疾病，由子宫腔外子宫内膜组织灶的存在所决定。遗传因素在本病的发病机制中占主导地位。在子宫内膜异位症中，病变部位和患病女性体内的性激素都有明显的失衡。研究目的:探讨子宫内膜异位症患者性激素基因多态性与激素谱的关系。材料与方法:研究组纳入103例子宫内膜异位症患者，对其性激素(促卵泡激素、黄体生成素、催乳素、雌二醇、黄体酮、睾酮、脱氢表雄酮)水平进行检测。对gwas显著性激素基因(rs148982377 ZNF789、rs34670419 ZKSCAN5、rs11031002和rs11031005 FSHB、rs112295236 SLC22A10、rs117585797 ANO2、rs117145500 CHD9、rs727428 SHBG、rs1641549 TP53)进行了9个单核苷酸多态性(SNP)的基因分型。采用线性回归方法研究了子宫内膜异位症患者snp与性激素水平的关系。结果:子宫内膜异位症患者血清雌二醇水平与多态位点rs148982377 ZNF789 (β=-0.488 ~ -0.445, pperm≤0.050)和rs34670419 ZKSCAN5 (β=-0.544 ~ -0.449, pperm≤0.050)、促黄体激素rs117585797 ANO2 (β= 0.618 ~ 0.709, pperm≤0.050)、孕激素rs117145500 CHD9 (β=0.365 ~ 0.429, pperm<0.050)、催乳素rs1641549 TP53 (β=-0.306 ~ -0.218, pperm<0.050)、睾酮rs148982377 ZNF789和rs34670419 ZKSCAN5 (β=0.492, pperm=0.050)相关。结论:候选基因多态性与子宫内膜异位症患者性激素水平存在相关性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

RESEARCH RESULTS IN BIOMEDICINE

CiteScore

1.50

自引率

0.00%

发文量