The genetics of endometriosis.
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This review examines evidence for endometriosis as a complex genetic trait and describes the OXEGENE study's genome-wide search for susceptibility genes in affected families.
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Abstract
Endometriosis is probably a complex trait, like diabetes, hypertension or asthma, which implies that the disease is caused by an interaction between multiple genes and the environment. This paper reviews the evidence, in both human and nonhuman primates, that supports the theory of a genetic basis to endometriosis. The OXEGENE study, which aims to identify susceptibility genes in endometriosis through linkage analysis, is also described. DNA is being collected from families containing at least two sisters with surgically confirmed revised American Fertility Society stage III and IV disease to carry out a genome-wide search for susceptibility genes. Candidate genes involved in galactose metabolism and dioxin detoxification are also being analyzed. The identification of genes conferring susceptibility to endometriosis may lead to a better understanding of disease etiology and, in time, improved therapeutic strategies and diagnostic methods.
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Cited by (42)
- Factores inmunogen�ticos asociados al desarrollo de endometriosis 2021
- The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights 2019
- Pathogenesis of endometriosis: the genetic/epigenetic theory 2018
- A Meta-analysis of the Association between p53 Codon 72 Polymorphism and Susceptibility to Endometriosis 2014
- Recent Advances in Gene Therapy of Endometriosis 2014
- Endometrial Tumors in Postoperative Scars-Pathogenesis, Diagnostics and Treatment 2012
- Insights into Assessing the Genetics of Endometriosis 2012
- No association of GSTM1 null polymorphism with endometriosis in women from central and southern Iran. 2012
- Pathological Aspects of Endometriosis 2012
- Regulación del crecimiento del tejido endometrial en respuesta a nuevas alternativas terapéuticas propuestas para tratar la endometriosis 2012
- Pathophysiology of Infertility in Endometriosis 2011
- Understanding the Pathogenesis of Endometriosis: Gene Mapping Studies 2011
- Endometriosis: Disease Classification and Behavior 2011
- Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis 2010
- The search for genes contributing to endometriosis risk 2008
- Elevated expression of CYP1A1 and -SYNUCLEIN in human ectopic (ovarian) endometriosis compared with eutopic endometrium 2008
- Interaction between cytochrome P450 gene polymorphisms and serum organochlorine TEQ levels in the risk of endometriosis 2007
- Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample 2007
- Arg72Pro p53 polymorphism in Italian women: no association with endometriosis 2007
- Effect of Soy Isoflavones on Endometriosis 2007
- Local application of danazol-loaded hyaluronic acid hydrogel to endometriosis in a rat model 2006
- Female Infertility and Free Radicals: Potential Role in Adhesions and Endometriosis 2006
- Estrogen receptor α-351 XbaI*G and -397 PvuII*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma 2006
- Estrogen receptor α dinucleotide repeat and cytochrome P450c17α gene polymorphisms are associated with susceptibility to endometriosis 2005
- Endometriosis Presenting as Hydronephrosis 2005
- An investigation of the potential malignant characteristics of endometriosis 2005
- Cytochrome P450c17α 5′-untranslated region *T/C polymorphism in endometriosis 2004
- Inguinal hernias, endometriosis, and other adverse outcomes in rhesus monkeys following lead exposure 2003
- Role of immunoreactions and mast cells in pathogenesis of human endometriosis -morphologic study and gene expression analysis- 2003
- Endometriosis from thelarche to midteens: pathogenesis and prognosis, prevention and pedagogy 2003
- The ovarian endometrioma: why is it so poorly managed?: Indicators from an anonymous survey 2002
- Endometriosis is sustained by tumour necrosis factor-α 2002
- Somatic DNA alterations in endometriosis: high frequency of chromosome 17 and p53 loss in late-stage endometriosis 2002
- New considerations for the pathogenesis of endometriosis 2002
- Heritability and Molecular Genetic Studies of Endometriosis 2002
- Endometriotic ovarian cysts: the case for ablative laparoscopic surgery 2001
- The possible anti‐inflammatory role of circulating human leukocyte antigen levels in women with endometriosis after treatment with danazol and leuprorelin acetate depot 2001
- Pharmacologic, but Not Dietary, Genistein Supports Endometriosis in a Rat Model 2001
- Genetic factors in common disorders of female infertility 2000
- Could tight garments cause endometriosis? 2000
- Genetic influences on endometriosis in an Australian twin sample 1999
- Could tight garments cause endometriosis? 1999
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