Association of Endometriosis Risk and Genetic Polymorphisms Involving Sex Steroid Biosynthesis and Their Receptors: A Meta-Analysis

Sun-Wei Guo, Sun‐Wei Guo
Gynecologic and obstetric investigation · 2005 · vol. 61(2) , pp. 90–105 · doi:10.1159/000089011 · PMID:16244490 · W2016284936
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This meta-analysis of 12 studies found no replicated or functionally supported associations between genetic polymorphisms in sex steroid biosynthesis/receptors and endometriosis risk.

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Abstract

Endometriosis is a sex steroids-dependent disease. It has been postulated that certain genetic polymorphisms involved in sex steroids biosynthesis and metabolisms may be associated with increased risk of developing endometriosis. Despite a deluge of reports of positive associations of endometriosis with numerous polymorphisms involving sex steroids production and metabolism, the results are often conflicting. We performed a meta-analysis of 12 association studies on 5 genes (CYP17, CYP19, AR, PR and ER). We found that many reported positive findings were not supported by the data due to faulty analysis. There have been no functional data that support a putative relationship of these genetic polymorphisms with endometriosis. A handful of positive findings so far have not been independently replicated, and should be viewed as preliminary. In addition, these findings should be counterbalanced by legitimate concerns of multiple comparisons, small prior probability of association with a particular polymorphism, proper selection of controls, and lack of replication (at least until now). In future association studies, it may be productive to put more thought to study design, execution, and data analysis.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Aromatase Endometriosis Genetic Predisposition to Disease Polymorphism, Genetic Receptors, Steroid Steroid 17-alpha-Hydroxylase Aromatase Chi-Square Distribution Endometriosis Female Genetic Predisposition to Disease Genotype Humans Receptors, Androgen Receptors, Androgen Receptors, Estrogen Receptors, Estrogen Receptors, Progesterone Receptors, Progesterone Receptors, Steroid

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Cited by (37)

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