Genetic influences on endometriosis in an Australian twin sample

Treloar, Susan A.; O’Connor, Daniel T.; O’Connor, Vivienne; Martin, Nicholas G.

doi:10.1016/s0015-0282(98)00540-8

Cited by 302 publications

(232 citation statements)

References 45 publications

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“…Results have generally not been replicated in subsequent studies, 41,[46][47][48] and variability between studies led to concerns about the estimates of genetic contribution to disease risk. However, studies in Australian twins, 45 in the Icelandic population, 43 and in rhesus macaques 49 provide strong evidence for a genetic contribution to the disease with the heritability of endometriosis estimated to be around 50%. 45 Lack of replication for many candidate gene studies is likely due to issues with study design including the lack of power in small-scale studies that detect only variants with large effect and are prone to detection of false positive results, differences in disease definitions, and case-control population sampling issues.…”

Section: Epidemiologymentioning

confidence: 99%

“…However, studies in Australian twins, 45 in the Icelandic population, 43 and in rhesus macaques 49 provide strong evidence for a genetic contribution to the disease with the heritability of endometriosis estimated to be around 50%. 45 Lack of replication for many candidate gene studies is likely due to issues with study design including the lack of power in small-scale studies that detect only variants with large effect and are prone to detection of false positive results, differences in disease definitions, and case-control population sampling issues. 50 Large GWA studies have been a powerful approach to discover genes influencing the risk of many common diseases.…”

Section: Epidemiologymentioning

confidence: 99%

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Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France

D’Hooghe²,

et al. 2013

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Endometriosis, defined as estrogen-dependent lesions containing endometrial glands and stroma outside the uterus, is a chronic and often painful gynecological condition that affects 6% to 10% of reproductive age women. Endometriosis has estimated annual costs of US $12 419 per woman (approximately €9579), comprising one-third of the direct health care costs with two-thirds attributed to loss of productivity. Decreased quality of life is the most important predictor of direct health care and total costs. It has been estimated that there is a mean delay of 6.7 years between onset of symptoms and a surgical diagnosis of endometriosis, and each affected woman loses on average 10.8 hours of work weekly, mainly owing to reduced effectiveness while working. To encourage and facilitate research into this debilitating disease, a consensus workshop to define future directions for endometriosis research was held as part of the 11th World Congress on Endometriosis in September 2011 in Montpellier, France. The objective of this workshop was to review and update the endometriosis research priorities consensus statement developed following the 10th World Congress on Endometriosis in 2008. 1 A total of 56 recommendations for research have been developed, grouped under 6 subheadings: (1) diagnosis, (2) classification and prognosis, (3) clinical trials, treatment, and outcomes, (4) epidemiology, (5) pathophysiology, and (6) research policy. By producing this consensus international research priorities statement, it is the hope of the workshop participants that researchers will be encouraged to develop new interdisciplinary research proposals that will attract increased funding support for work on endometriosis.

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Section: Epidemiologymentioning

confidence: 99%

Section: Epidemiologymentioning

confidence: 99%

Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France

D’Hooghe²,

et al. 2013

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“…The controls were 768 unrelated women who had volunteered for a twin study of gynaecological health [2]. Controls were selected after consideration of the competing issues of ascertainment bias from clinic controls and presence of undiagnosed cases.…”

Section: Participants and Sample Collectionmentioning

confidence: 99%

“…Endometriosis is a complex disease involving multiple susceptibility genes and environmental factors [1][2][3][4]. Estimates of the population prevalence indicate that endometriosis affects 8-10% of women of reproductive age [2,5], but the reasons for establishment and progression of endometriosis remain uncertain.…”

Section: Introductionmentioning

confidence: 99%

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Common Variation in the CYP17A1 and IFIT1 Genes on Chromosome 10 Does Not Contribute to the Risk of Endometriosis

Zhao¹,

Nyholt²,

Le³

et al. 2008

TORSJ

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Endometriosis is a complex disease involving multiple susceptibility genes and environmental factors. Our previous studies on endometriosis identified a region of significant linkage on chromosome 10q. Two biological candidate genes (CYP17A1 and IFIT1) located on chromosome 10q, have previously been implicated in endometriosis and/or uterine function. We hypothesized that variation in CYP17A1 and/or IFIT1 could contribute to the risk of endometriosis and may account for some of the linkage signal on chromosome 10q. We genotyped 17 single nucleotide polymorphisms (SNPs) in the CYP17A1 and IFIT1 genes including SNP rs743572 previously associated with endometriosis in 768 endometriosis cases and 768 unrelated controls. We found no evidence for association between endometriosis and individual SNPs or SNP haplotypes in CYP17A1 and IFIT1. Common variation in these genes does not appear to be a major contributor to endometriosis susceptibility in our Australian sample.

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Molecular Genetics of Endometriosis

Painter

Zondervan

Missmer

et al. 2011

Encyclopedia of Life Sciences

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Endometriosis is a gynaecological disease that affects 6–10% of women of reproductive age. Symptoms vary but commonly include severe menstrual and pelvic pain and infertility, all of which can have major impacts on the lives of affected women. Linkage studies have identified several chromosomal regions but the genes contributing to these linkage signals have yet to be identified. Candidate gene studies on over 80 genes have not shown robust evidence of association, mostly due to the limited power to detect individual risk variants of small effects. Four groups have now conducted genome‐wide association studies for endometriosis, revealing a number of intriguing candidates that may contribute to disease risk. Further research aimed at increasing our understanding of the genes and biological pathways underlying endometriosis may provide better and more targeted diagnosis and treatment options in the future. Key Concepts: Endometriosis is a gynaecological disease that occurs when tissue resembling endometrium (the tissue that lines the inside of the uterus) attaches and grows on organs in the body cavity, including the ovaries, fallopian tubes, intestine and bowel. Endometriosis affects 6–10% of women during their reproductive years and the symptoms, including severe menstrual and pelvic pain and sub‐ or infertility, can greatly impact an affected woman's physical and psychological wellbeing as well as her family and working life. The financial cost of endometriosis is amongst the highest of all complex diseases, with direct (medical and surgical treatment) and indirect (loss of income, reduced productivity, infertility treatment and social withdrawal) health care costs estimated at >$15 billion annually in the US alone. Linkage studies on large numbers of families have indicated chromosomal regions that may harbour endometriosis susceptibility genes but these are yet to be definitively identified. Candidate gene association studies on over 80 genes have not produced convincing evidence of gene robustly associated with endometriosis susceptibility. Genome‐wide association studies have identified a small number of chromosomal areas that harbour extremely interesting candidate genes that should be followed up in the future. Understanding the genes and biological pathways underlying susceptibility to endometriosis may eventually lead to better diagnostic and treatment options for women affected by this common and often debilitating disease.

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Genetic influences on endometriosis in an Australian twin sample

Cited by 302 publications

References 45 publications

Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France

Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France

Common Variation in the CYP17A1 and IFIT1 Genes on Chromosome 10 Does Not Contribute to the Risk of Endometriosis

Molecular Genetics of Endometriosis

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