Applicability of polygenic risk scores in endometriosis clinical presentation

Agnes Svensson, Koldo Garcia-Etxebarria, Koldo García‐Etxebarria, Anna Åkesson, Christer Borgfeldt, Bodil Roth, Malin Ek, Mauro D’Amato, Mauro D'Amato, Bodil Ohlsson
BMC women's health · 2022 · vol. 22(1) , pp. 208 · doi:10.1186/s12905-022-01788-w · PMID:35659226 · W4281695341
article OA: gold CC0 ⤵ 2 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study found that polygenic risk scores for endometriosis had low sensitivity and specificity for predicting disease presentation, but suggest PRS may be useful if developed for specific clinical outcomes.

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Abstract

BACKGROUND: Risk 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. METHODS: Women 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. RESULTS: Inverse 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. CONCLUSION: The findings indicate that specific PRS should be developed to predict clinical presentations in patient with endometriosis.

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Condition tags

endometriosisirritable_bowel_syndrome

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Genome-Wide Association Study Genome-Wide Association Study Genome-Wide Association Study Genome-Wide Association Study Genome-Wide Association Study Female Female Female Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genetic Predisposition to Disease

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (43)

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