Literature DB >> 18308831

Genetic polymorphisms of matrix metalloproteinase 12 and 13 genes are implicated in endometriosis progression.

Bruno Borghese1, Jean-Daniel Chiche, Déwi Vernerey, Claire Chenot, Olivier Mir, Gérard Bijaoui, Catherine Bonaiti-Pellié, Charles Chapron.   

Abstract

BACKGROUND: Matrix metalloproteinases (MMPs) may contribute to endometriosis. We tested whether eight functional polymorphisms of these genes could modify the risk of endometriosis.
METHODS: In this case-control study, 227 endometriosis and 241 controls were genotyped for MMP1 -1607 1G/2G, MMP2 -1575 G/A (MMP2.1), -1306 C/T (MMP2.2), MMP3 -1612 5A/6A, MMP7 -153 C/T (MMP7.1), -181 A/G (MMP7.2), MMP12 -82 A/G and MMP13-77 A/G. Association between MMP genotypes and superficial (SUP), deep infiltrating (DIE) and endometriomas (OMA) was tested for each polymorphism separately, using unconditional logistic regression and then for combined genotypes, using the combination test.
RESULTS: When considering all cases, MMP2 polymorphisms were found to be significant, mainly due to DIE (P = 0.023). A small difference between SUP and controls was found for MMP7.2 (P = 0.032) and MMP12 (P = 0.035), in the absence of correction for multiple testing. Using the combination test, the best association when comparing SUP with controls was obtained for MMP12-MMP13 (P = 0.004) for the combined genotype A/G-A/A (odds ratio = 27.60, 95% confidence interval: 2.80-272.40).
CONCLUSIONS: These data show a potential role for MMP12 -82 A/G and MMP13 -77 A/G combined polymorphisms in superficial endometriosis. As no association was found with deep infiltrating endometriosis, this combination of polymorphisms might protect from a more in-depth penetration of tissues.

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Year:  2008        PMID: 18308831     DOI: 10.1093/humrep/den007

Source DB:  PubMed          Journal:  Hum Reprod        ISSN: 0268-1161            Impact factor:   6.918


  6 in total

1.  The effect of gender and genetic polymorphisms on matrix metalloprotease (MMP) and tissue inhibitor (TIMP) plasma levels in different infectious and non-infectious conditions.

Authors:  J Collazos; V Asensi; G Martin; A H Montes; T Suárez-Zarracina; E Valle-Garay
Journal:  Clin Exp Immunol       Date:  2015-09-11       Impact factor: 4.330

2.  Effect of matrix metalloproteinase promoter polymorphisms on endometriosis and adenomyosis risk: evidence from a meta-analysis.

Authors:  Hui Ye; Yazhou He; Jiarong Wang; Tiange Song; Zhu Lan; Yiqi Zhao; Mingrong Xi
Journal:  J Genet       Date:  2016-09       Impact factor: 1.166

3.  Identification of susceptibility genes for peritoneal, ovarian, and deep infiltrating endometriosis using a pooled sample-based genome-wide association study.

Authors:  Bruno Borghese; Jörg Tost; Magalie de Surville; Florence Busato; Frank Letourneur; Françoise Mondon; Daniel Vaiman; Charles Chapron
Journal:  Biomed Res Int       Date:  2015-02-04       Impact factor: 3.411

Review 4.  The bimodal role of matrix metalloproteinases and their inhibitors in etiology and pathogenesis of endometriosis (Review).

Authors:  Magdalenia Bałkowiec; Radosław B Maksym; Paweł K Włodarski
Journal:  Mol Med Rep       Date:  2018-07-23       Impact factor: 2.952

Review 5.  The Role of Matrix Metalloproteinases in Endometriosis: A Potential Target.

Authors:  Junya Ke; Jiangfeng Ye; Mingqing Li; Zhiling Zhu
Journal:  Biomolecules       Date:  2021-11-22

6.  Role of plasma matrix-metalloproteases (MMPs) and their polymorphisms (SNPs) in sepsis development and outcome in ICU patients.

Authors:  Guadalupe Martin; Víctor Asensi; A Hugo Montes; Julio Collazos; Victoria Alvarez; José A Carton; Francisco Taboada; Eulalia Valle-Garay
Journal:  Sci Rep       Date:  2014-05-16       Impact factor: 4.379

  6 in total

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