Is There a Genetic Basis to Endometriosis?

Kennedy S, S Kennedy, Stephen Kennedy
Seminars in reproductive endocrinology · 1997 · vol. 15(03) , pp. 309–318 · doi:10.1055/s-2008-1068761 · PMID:9383840 · W2093852869
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⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-12 ⓘ

This paper reviews evidence for a genetic basis of endometriosis in humans and primates, considering environmental factors and the potential for genetic loci identification to improve understanding and treatment.

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⚙ AI-generated deep summary by claude@2026-07, 2026-07-09 · read from full text ⓘ

The paper reviews evidence for a genetic contribution to endometriosis, framing it as a common multifactorial disease driven by interactions among multiple gene loci and environmental exposures rather than a clear Mendelian inheritance pattern. It surveys findings from human studies and non-human primates, and discusses implicated environmental agents alongside the genetic evidence. A key point is that linkage analysis and identification of susceptibility loci could improve understanding of disease aetiology and, over time, inform therapeutic strategies and diagnostic methods, though the chapter does not provide new original experimental results and relies on the existing literature. This paper is centrally about endometriosis — it is a genetics-focused review examining evidence for genetic susceptibility and environmental interactions.

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Abstract

It is likely that endometriosis is a common multifactorial disease, like diabetes and asthma, caused by an interaction between multiple gene loci and the environment. Such conditions do not have a clear Mendelian pattern of inheritance. This chapter reviews the existing evidence, in human and non-human primates, that suggests there is a genetic basis to endometriosis. The environmental agents that have been implicated in the development of endometriosis are also reviewed. The identification of genetic loci conferring susceptibility to endometriosis using linkage analysis may lead to a better understanding of disease aetiology and, in time, improved therapeutic strategies and diagnostic methods.
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Abstract

It is likely that endometriosis is a common multifactorial disease, like diabetes and asthma, caused by an interaction between multiple gene loci and the environment. Such conditions do not have a clear Mendelian pattern of inheritance. This chapter reviews the existing evidence, in human and non-human primates, that suggests there is a genetic basis to endometriosis. The environmental agents that have been implicated in the development of endometriosis are also reviewed. The identification of genetic loci conferring susceptibility to endometriosis using linkage analysis may lead to a better understanding of disease aetiology and, in time, improved therapeutic strategies and diagnostic methods.

Keywords

Endometriosis - genetics - linkage analysis - non-human primates

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Genetic Linkage Animals Endometriosis Endometriosis Endometriosis Environmental Pollutants Environmental Pollutants Female Humans Immunity, Cellular Karyotyping Loss of Heterozygosity Macaca mulatta Macaca mulatta Mullerian Ducts Mullerian Ducts Pedigree Phenotype

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.

Cited by (31)

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License: CC0 · commercial use OK