Shared genetics underlying epidemiological association between endometriosis and ovarian cancer
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This study found shared genetic risks between endometriosis and most ovarian cancer histotypes, except mucinous, suggesting common genetic susceptibility loci contribute to their epidemiological association.
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Abstract
Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18–0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07–0.89 and 0.40, 95% CI = 0.05–0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11–0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.
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Cited by (16)
- Ovarian endometriosis, a precursor of ovarian cancer: Histological aspects, gene expression and microRNA alterations (Review) 2021
- Genetic Contribution of Endometriosis to the Risk of Developing Hormone-Related Cancers 2021
- Different Influences of Endometriosis and Pelvic Inflammatory Disease on the Occurrence of Ovarian Cancer 2021
- Co-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer 2020
- GWAS of five gynecologic diseases and cross-trait analysis in Japanese 2019
- Epithelial Mutations in Endometriosis: Link to Ovarian Cancer 2019
- Machine Learning Classifiers for Endometriosis Using Transcriptomics and Methylomics Data 2019
- Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development 2018
- Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses 2018
- Association between ovarian cancer and advanced endometriosis 2018
- Women with adenomyosis are at higher risks of endometrial and thyroid cancers: A population-based historical cohort study 2018
- Clinical implication for endometriosis associated with ovarian cancer 2017
- Endometriosis and risk of ovarian and endometrial cancers in a large prospective cohort of U.S. nurses 2017
- Epidemiology of ovarian cancer: a review 2017
- Research Priorities for Endometriosis: Recommendations From a Global Consortium of Investigators in Endometriosis 2016
- Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient 2016
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- last seen: 2026-06-10T17:14:06.276822+00:00
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