Interaction between genetic risk and comorbid conditions in endometriosis.

IF 3.3 Q2 GENETICS & HEREDITY
Isabelle M McGrath, Valentina Rukins, Triin Laisk, Sally Mortlock, Grant W Montgomery
{"title":"Interaction between genetic risk and comorbid conditions in endometriosis.","authors":"Isabelle M McGrath, Valentina Rukins, Triin Laisk, Sally Mortlock, Grant W Montgomery","doi":"10.1016/j.xhgg.2025.100456","DOIUrl":null,"url":null,"abstract":"<p><p>Endometriosis is a complex disease, and many genetic and environmental risk factors contribute to disease risk. The genetic risk of endometriosis has been well characterized in genome-wide association studies. While few physiological risk factors are known, endometriosis is associated with many comorbid disorders. This study examines the interplay between genetic risk factors, comorbid disorders, and endometriosis. Genetic and health record data from the UK Biobank (5,432 cases; 92,344 controls) and Estonian Biobank (3,824 cases; 15,296 controls) was used to estimate the correlation between comorbidity burden, endometriosis and genetic risk, and to estimate the interactive effects between endometriosis polygenic risk score (PRS) and diagnosis of prevalent comorbidities (uterine fibroids, heavy menstrual bleeding, dysmenorrhea, irritable bowel syndrome, diverticular disease, and asthma) on endometriosis prevalence. The comorbidity burden was significantly higher in endometriosis cases and was positively correlated with endometriosis PRS in women without endometriosis but negatively correlated in women with endometriosis. The absolute increase in endometriosis prevalence conveyed by the presence of several comorbidities (uterine fibroids, heavy menstrual bleeding, dysmenorrhea) was greater in individuals with a high endometriosis PRS compared to a low endometriosis PRS. These findings, consistent across two biobanks, highlight significant interactions between polygenic risk for endometriosis and the diagnosed comorbidities in endometriosis susceptibility that have implications for understanding the underlying mechanisms contributing to disease risk.</p>","PeriodicalId":34530,"journal":{"name":"HGG Advances","volume":" ","pages":"100456"},"PeriodicalIF":3.3000,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"HGG Advances","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xhgg.2025.100456","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Endometriosis is a complex disease, and many genetic and environmental risk factors contribute to disease risk. The genetic risk of endometriosis has been well characterized in genome-wide association studies. While few physiological risk factors are known, endometriosis is associated with many comorbid disorders. This study examines the interplay between genetic risk factors, comorbid disorders, and endometriosis. Genetic and health record data from the UK Biobank (5,432 cases; 92,344 controls) and Estonian Biobank (3,824 cases; 15,296 controls) was used to estimate the correlation between comorbidity burden, endometriosis and genetic risk, and to estimate the interactive effects between endometriosis polygenic risk score (PRS) and diagnosis of prevalent comorbidities (uterine fibroids, heavy menstrual bleeding, dysmenorrhea, irritable bowel syndrome, diverticular disease, and asthma) on endometriosis prevalence. The comorbidity burden was significantly higher in endometriosis cases and was positively correlated with endometriosis PRS in women without endometriosis but negatively correlated in women with endometriosis. The absolute increase in endometriosis prevalence conveyed by the presence of several comorbidities (uterine fibroids, heavy menstrual bleeding, dysmenorrhea) was greater in individuals with a high endometriosis PRS compared to a low endometriosis PRS. These findings, consistent across two biobanks, highlight significant interactions between polygenic risk for endometriosis and the diagnosed comorbidities in endometriosis susceptibility that have implications for understanding the underlying mechanisms contributing to disease risk.

子宫内膜异位症遗传风险与合并症之间的相互作用。
子宫内膜异位症是一种复杂的疾病,许多遗传和环境风险因素导致疾病风险。子宫内膜异位症的遗传风险在全基因组关联研究中得到了很好的表征。虽然已知的生理危险因素很少,但子宫内膜异位症与许多合并症有关。本研究探讨了遗传风险因素、合并症和子宫内膜异位症之间的相互作用。来自英国生物银行(5,432例,92,344例对照)和爱沙尼亚生物银行(3,824例,15,296例对照)的遗传和健康记录数据用于估计共病负担、子宫内膜异位症和遗传风险之间的相关性,以及估计子宫内膜异位症PRS与普遍共病(子宫肌瘤、月经大出血、痛经、肠易激综合征、憩室病和哮喘)诊断之间的相互作用对子宫内膜异位症患病率的影响。子宫内膜异位症患者的共病负担明显更高,无子宫内膜异位症女性的共病负担与子宫内膜异位症PRS呈正相关,而与子宫内膜异位症女性的共病负担呈负相关。与低PRS相比,高PRS的子宫内膜异位症患者与低PRS相比,存在几种合并症(子宫肌瘤、大量月经出血、痛经)的子宫内膜异位症患病率的绝对增加更大。这些发现在两个生物库中是一致的,强调了子宫内膜异位症的多基因风险与子宫内膜异位症易感性中诊断出的合并症之间的显著相互作用,这对理解导致疾病风险的潜在机制具有重要意义。
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
HGG Advances
HGG Advances Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
4.30
自引率
4.50%
发文量
69
审稿时长
14 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信