Heritability of endometriosis

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.


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



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


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


Not applicable.


In total 28,370 women, female monozygotic (MZ) or dizygotic (DZ) twins, who participated in either of two surveys (1998–2002 or 2005–2006).



Main Outcome Measure(s):

Self-reported endometriosis, validated by medical records.


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.


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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(15)00462-8/fulltext

Please sign in or register for FREE

Your Fertility and Sterility Dialog login information is not the same as your ASRM or EES credentials. Users must create a separate account to comment or interact on the Dialog.