ArticleHuman genetics2021
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Factors contributing to the delayed diagnosis of endometriosis-a systematic review and meta-analysis.Frontiers in medicine · 2025Pooled it
- Genetic liability to multiple factors and uterine leiomyoma risk: a Mendelian randomization study.Frontiers in endocrinology · 2023Pooled it
- Polyendocrine metabolic ovarian syndrome (PMOS)/polycystic ovary syndrome (PCOS): current and future trends.The Journal of clinical investigation · 2026Review
- Risk stratification for endometrial cancer: independent and joint effects of polygenic risk score and body mass index in 129,829 UK Biobank participants.BMC medicine · 2026Observational
- Investigating the association between uterine fibroids and weight-bearing joint osteoarthritis based on a bidirectional Mendelian randomization study.Experimental and therapeutic medicine · 2026Article
- Global, regional and national uterine fibroid burdens from 1990 to 2021 and projections until 2050: results from the GBD study.BMC women's health · 2025Article
- Trends in uterine cancer incidence and mortality: insights from a natural history model.Journal of the National Cancer Institute · 2025Article
- Independent Effects of Hypothyroidism and Obesity on Endometrial Cancer Risk Revealed by Mendelian Randomisation.Biomedicines · 2025Article
- Review
- Germline copy number variants and endometrial cancer risk.Human genetics · 2024Article
- Endometriosis and uterine fibroids and risk of premature mortality: prospective cohort study.BMJ (Clinical research ed.) · 2024Article
- A cause-effect relationship between uterine diseases and breast cancer: A bidirectional Mendelian randomization study.Heliyon · 2024Article
- Using Genetics to Investigate Relationships between Phenotypes: Application to Endometrial Cancer.Genes · 2024Review
- Review
- Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities.Human reproduction update · 2023Review
- Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk.Human genetics · 2023Article
- GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.Human molecular genetics · 2023Article
- Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels.iScience · 2023Article
- New concepts on the etiology of endometriosis.The journal of obstetrics and gynaecology research · 2023Article
- The Global, Regional, and National Uterine Cancer Burden Attributable to High BMI from 1990 to 2019: A Systematic Analysis of the Global Burden of Disease Study 2019.Journal of clinical medicine · 2023Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Endometriosis, polycystic ovary syndrome (PCOS) and uterine fibroids have been proposed as endometrial cancer risk factors; however, disentangling their relationships with endometrial cancer is complicated due to shared risk factors and comorbidities. Using genome-wide association study (GWAS) data, we explored the relationships between these non-cancerous gynecological diseases and endometrial cancer risk by assessing genetic correlation, causal relationships and shared risk loci. We found significant genetic correlation between endometrial cancer and PCOS, and uterine fibroids. Adjustment for genetically predicted body mass index (a risk factor for PCOS, uterine fibroids and endometrial cancer) substantially attenuated the genetic correlation between endometrial cancer and PCOS but did not affect the correlation with uterine fibroids. Mendelian randomization analyses suggested a causal relationship between only uterine fibroids and endometrial cancer. Gene-based analyses revealed risk regions shared between endometrial cancer and endometriosis, and uterine fibroids. Multi-trait GWAS analysis of endometrial cancer and the genetically correlated gynecological diseases identified a novel genome-wide significant endometrial cancer risk locus at 1p36.12, which replicated in an independent endometrial cancer dataset. Interrogation of functional genomic data at 1p36.12 revealed biologically relevant genes, including WNT4 which is necessary for the development of the female reproductive system. In summary, our study provides genetic evidence for a causal relationship between uterine fibroids and endometrial cancer. It further provides evidence that the comorbidity of endometrial cancer, PCOS and uterine fibroids may partly be due to shared genetic architecture. Notably, this shared architecture has revealed a novel genome-wide risk locus for endometrial cancer.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.