ArticleBMC women's health2022
Applicability of polygenic risk scores in endometriosis clinical presentation.
Article in BMC women's health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- From polygenic risk to functional genomics: a framework for precision gynecological disease modeling.Nature communications · 2026Review
- Translational Assessment of Omics Approaches in Endometriosis: Bridging Molecular Discovery with Clinical Utility.International journal of molecular sciences · 2026Review
- The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study.BMC medicine · 2025Article
- Challenges and Opportunities for Data Science in Women's Health.Annual review of biomedical data science · 2023Review
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8 authors.
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Abstract
backgroundRisk prediction is an essential part of preventative medicine and in recent years genomic information has become an interesting factor in risk models. Polygenic risk scores (PRS) combine the effect of many genetic variations into a single score which has been shown to have predictive value for many diseases. This study aimed to investigate the association between PRS for endometriosis and the clinical presentation of the disease.
methodsWomen with endometriosis (N = 172) were identified at the Department of Gynecology. All participants answered questionnaires regarding sociodemographic factors, lifestyle habits and medical history, registered bowel symptoms on the Visual Analog Scale for Irritable Bowel Syndrome and passed blood samples. DNA was extracted and samples were genotyped, and a PRS was calculated based on previous genome-wide association studies of endometriosis. Inflammatory proteins and TSH receptor antibodies (TRAb) in serum were analyzed.
resultsInverse associations were identified between PRS and spread of endometriosis, involvement of the gastrointestinal tract and hormone treatment. However, significance was lost when calculated as p for trend and the specificity and sensitivity were low. There were no correlations between PRS and TRAb or inflammatory proteins.
conclusionThe findings indicate that specific PRS should be developed to predict clinical presentations in patient with endometriosis.
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