Rama Saha1, Hans Järnbert Pettersson2, Pia Svedberg3, Matts Olovsson4, Agneta Bergqvist5, Lena Marions2, Per Tornvall2, Ralf Kuja-Halkola6. 1. Department of Clinical Science and Education, Karolinska Institutet, Stockholm, Sweden. Electronic address: rama.saha@ki.se. 2. Department of Clinical Science and Education, Karolinska Institutet, Stockholm, Sweden. 3. Division of Insurance Medicine, Department of Clinical Neurosciences, Karolinska Institutet, Stockholm, Sweden. 4. Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden. 5. Karolinska Institutet, Stockholm, Sweden. 6. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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.
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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