ArticleFrontiers in reproductive health2021
Polygenic Risk Score Prediction for Endometriosis.
Article in Frontiers in reproductive health, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- From polygenic risk to functional genomics: a framework for precision gynecological disease modeling.Nature communications · 2026Review
- Predictive markers of endometriosis: a future perspective.Archives of gynecology and obstetrics · 2026Review
- Translational Assessment of Omics Approaches in Endometriosis: Bridging Molecular Discovery with Clinical Utility.International journal of molecular sciences · 2026Review
- Rare variant analyses provide insights into the genetic architecture of endometriosis.Human genomics · 2026Article
- DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2026Article
- The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study.BMC medicine · 2025Article
- Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case-Control Study.International journal of molecular sciences · 2025Article
- Social Determinants of Health and Lifestyle Risk Factors Modulate Genetic Susceptibility for Women's Health Outcomes.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2025Article
- Familial coaggregation and shared genetic influence between major depressive disorder and gynecological diseases.European journal of epidemiology · 2024Article
- Revisiting the Risk Factors for Endometriosis: A Machine Learning Approach.Journal of personalized medicine · 2022Article
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Endometriosis is a major health care challenge because many young women with endometriosis go undetected for an extended period, which may lead to pain sensitization. Clinical tools to better identify candidates for laparoscopy-guided diagnosis are urgently needed. Since endometriosis has a strong genetic component, there is a growing interest in using genetics as part of the clinical risk assessment. The aim of this work was to investigate the discriminative ability of a polygenic risk score (PRS) for endometriosis using three different cohorts: surgically confirmed cases from the Western Danish endometriosis referral Center (249 cases, 348 controls), cases identified from the Danish Twin Registry (DTR) based on ICD-10 codes from the National Patient Registry (140 cases, 316 controls), and replication analysis in the UK Biobank (2,967 cases, 256,222 controls). Patients with adenomyosis from the DTR (25 cases) and from the UK Biobank (1,883 cases) were included for comparison. The PRS was derived from 14 genetic variants identified in a published genome-wide association study with more than 17,000 cases. The PRS was associated with endometriosis in surgically confirmed cases [odds ratio (OR) = 1.59,
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