Pathogenesis of Endometriosis: Genetics

Nilüfer Rahmioğlu, Krina T. Zondervan
In: Endometriosis and Adenomyosis · 2022 · pp. 75–84 · doi:10.1007/978-3-030-97236-3_6 · W4285194957
book-chapter OA: closed CC0 ⤵ 1 in-corpus citation
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-06 ⓘ

A large genome-wide association meta-analysis identified 27 loci associated with endometriosis, particularly with severe disease, implicating pathways in hormone signaling and inflammation.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-06 ⓘ

This chapter reviews the genetic basis of endometriosis, focusing on genome-wide association studies (GWAS) that identify common susceptibility variants and summarizing findings from large meta-analyses. The largest consortium meta-analysis included 58,115 endometriosis cases and 733,480 controls and reported 27 genome-wide significant loci, with lead SNPs near genes involved in sex-steroid hormone, WNT signaling, cell adhesion/migration, cell growth/carcinogenesis, and inflammation-related pathways, and with subtype patterns in which many loci showed larger effects in stage III/IV disease than in stage I/II. A key caveat is that these loci explain only a small fraction of overall disease variance (2.15% overall; 3.83% for stage III/IV), indicating many additional genetic factors remain undiscovered. The chapter also emphasizes the need for fine-mapping and functional follow-up in endometrium-relevant tissues and cells, including multiomics analyses. This paper is centrally about endometriosis—summarizing GWAS evidence for genetic loci, pathways, and disease-stage/subtype differences.

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endometriosis

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