Heritability of endometriosis

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This paper investigated the heritability of endometriosis, aiming to quantify the genetic contribution to the development of the condition.

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Abstract

ObjectiveTo estimate the relative contribution of genetic influences and prevalence on endometriosis.DesignAnalysis of self-reported data from a nationwide population-based twin registry.SettingNot applicable.Patient(s)A total of 28,370 women, female monozygotic (MZ) or dizygotic (DZ) twins, who participated in either of two surveys (1998-2002 or 2005-2006).Intervention(s)None.Main outcome measure(s)Self-reported endometriosis, validated by medical records.Result(s)A history of endometriosis was reported by 1,228 female twins. The probandwise concordance was 0.21 for MZ and 0.10 for DZ twins. Higher within-pair (tetrachoric) correlation was observed among MZ (0.47) compared with DZ (0.20) twins. The best-fitting model revealed a contribution of 47% by additive genetic factors and the remaining 53% attributed to unique environmental effects.Conclusion(s)Our findings suggest both genetic and unique (nonshared) environmental influences on the complex etiology of endometriosis and support the hypothesis that genes have a strong influence on phenotypic manifestations of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Adult Aged Cross-Sectional Studies Diseases in Twins Diseases in Twins Diseases in Twins Endometriosis Endometriosis Female Humans Middle Aged Models, Genetic Quantitative Trait, Heritable Twins, Dizygotic Twins, Dizygotic Twins, Dizygotic Twins, Monozygotic Twins, Monozygotic

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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)

Cited by (50)

Source provenance

europepmc
last seen: 2026-07-25T06:15:30.875455+00:00
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pubmed
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License: CC0 · commercial use OK