Heritability of endometriosis

Capsule:
Genetic and unique environmental influences on the etiology of endometriosis further strengthen the conclusion that genes have a strong influence on the phenotypic manifestations of endometriosis.

Authors:
Rama Saha, M.D., Hans Järnbert Pettersson, Ph.D., Pia Svedberg, Ph.D., Matts Olovsson, Ph.D., Agneta Bergqvist, Ph.D., Lena Marions, Ph.D., Per Tornvall, Ph.D., Ralf Kuja-Halkola, Ph.D.

Volume 104, Issue 4, Pages 947-952

Abstract:

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):
In total 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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