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  • Title: Heritability of endometriosis.
    Author: Saha R, Pettersson HJ, Svedberg P, Olovsson M, Bergqvist A, Marions L, Tornvall P, Kuja-Halkola R.
    Journal: Fertil Steril; 2015 Oct; 104(4):947-952. PubMed ID: 26209831.
    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): 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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