Heritability of endometriosis

doi:10.1016/j.fertnstert.2015.06.035

Fertility and Sterility

Volume 104, Issue 4, October 2015, Pages 947-952

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Objective

To estimate the relative contribution of genetic influences and prevalence on endometriosis.

Design

Analysis of self-reported data from a nationwide population-based twin registry.

Setting

Not 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.

Key Words

Concordance

endometriosis

heritability

twins

Cited by (0)

: R.S. has nothing to disclose. H.J.P. has nothing to disclose. P.S. has nothing to disclose. M.O. has nothing to disclose. A.B. has nothing to disclose. L.M. has nothing to disclose. P.T. has nothing to disclose. R.K.-H. has nothing to disclose.

: Supported by the Karolinska Institutet (KI) Research Foundations; grants from the KI Centre for Health Care Science and the KI Strategic Research Program in Epidemiology (Dnr 7340/2012, to P.S.). The Swedish Twin Registry is supported by the Department of Higher Education, the Swedish Research Council, and AstraZeneca, and STAGE was supported by the U.S. National Institutes of Health [grants DK066134 and CA085739]. The funding sources had no involvement in this study.