Heritability of endometriosis

被引：130
作者：
Saha, Rama [1 ]
Pettersson, Hans Jarnbert [1 ]
Svedberg, Pia [2 ]
Olovsson, Matts [3 ]
Bergqvist, Agneta [4 ]
Marions, Lena [1 ]
Tornvall, Per [1 ]
Kuja-Halkola, Ralf [5 ]
机构：
[1] Karolinska Inst, Dept Clin Sci & Educ, S-11883 Stockholm, Sweden
[2] Karolinska Inst, Div Insurance Med, Dept Clin Neurosci, S-11883 Stockholm, Sweden
[3] Uppsala Univ, Dept Womens & Childrens Hlth, Uppsala, Sweden
[4] Karolinska Inst, S-11883 Stockholm, Sweden
[5] Karolinska Inst, Dept Med Epidemiol & Biostat, S-11883 Stockholm, Sweden
来源：
FERTILITY AND STERILITY | 2015年 / 104卷 / 04期
基金：
瑞典研究理事会; 美国国家卫生研究院;
关键词：
Concordance; endometriosis; heritability; twins; GENOME-WIDE ASSOCIATION; SWEDISH TWIN REGISTRY; FAMILIAL AGGREGATION; JAPANESE POPULATION; GENETIC INFLUENCES; WOMEN; RISK; LOCUS; METAANALYSIS; EPIDEMIOLOGY;
D O I：
10.1016/j.fertnstert.2015.06.035
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
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. (C) 2015 by American Society for Reproductive Medicine.
引用
收藏
页码：947 / 952
页数：6
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