Genetics of endometriosis: current status and prospects

Paola Vigano, Paola Viganò, Edgardo Somigliana, Michele Vignali, Mauro Busacca, Anna Maria Di Blasio
Frontiers in bioscience : a journal and virtual library · 2007 · vol. 12(8-12) , pp. 3247 · doi:10.2741/2308 · PMID:17485295 · W2081789347
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This review discusses current genetic studies on endometriosis, including linkage and association findings, candidate genes, challenges, and future prospects with genome-wide association studies.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

The paper reviews the genetic evidence for endometriosis, drawing on family and twin studies to note heritability estimates comparable to other complex diseases, and summarizes linkage and association research aimed at identifying susceptibility loci. It reports that a linkage scan of 1,176 families identified significant linkage to a novel locus on chromosome 10q26, while stating that multiple proposed gene variants and candidate genes have unconfirmed effects. The authors emphasize challenges in endometriosis genetics, including heterogeneity of disease manifestations and potential strong gene-environment interactions. This paper is centrally about endometriosis — it reviews the current status of genetic studies and prospects for discovering susceptibility loci and causal variants.

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Abstract

Family and twin studies have shown that heritability accounts for endometriosis development to an extent similar to other complex genetic diseases. Both linkage analysis and association studies have been performed to identify genetic determinants for the disease. Results from the linkage scan of 1,176 families collected thanks to a joint effort between an Australian and a UK group supported significant linkage to a novel susceptibility locus on chromosome 10q26. Although gene variants with effects on the disease predisposition have been proposed to exist and several candidates have been put forward, their effects have not been or are yet to be confirmed. The main categories of candidate genes studied have been those involved in detoxification processes, sex steroid biosynthesis and action, immune system regulation. Genetic studies on endometriosis face numerous challenges as the disease has several manifestations and different forms. Moreover, strong gene-environmental interactions might definitively influence approaches to identify genetic variants involved. Genome-wide association studies that survey most of the genome for causal genetic variants provide the potential for future progress.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Female Humans Molecular Epidemiology

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.

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Cited by (50)

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