Association of endometriosis risk and genetic polymorphisms involving sex steroid biosynthesis and their receptors: a meta-analysis

Guo SW, Sun-Wei Guo, Sun‐Wei Guo
Gynecologic and obstetric investigation · 2005 · vol. 61(2) , pp. 90–105 · doi:10.1159/000089011 · PMID:16244490 · W2016284936
Systematic review / meta-analysis OA: closed CC0 ⤵ 37 in-corpus citations
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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

endometriosis

MeSH descriptors

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

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (53)

Cited by (37)

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