Matrix metalloproteinases’s association of polymorphisms of MMP3 and MMP9 with development of genital endometriosis
This study found significant differences in MMP3 and MMP9 alleles between women with external genital endometriosis and controls, suggesting a role for matrix metalloproteinases in disease pathogenesis.
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This study compared allelic polymorphisms in multiple matrix metalloproteinase genes (including MMP3 rs3025058 and MMP9 rs17576, rs2250889) between women with external genital endometriosis (EGE) and healthy controls confirmed disease-free by laparoscopic inspection. The authors found significant differences in the incidence of particular MMP3 and MMP9 alleles and used multifactor dimensionality reduction to identify statistically significant multi-SNP allele combinations involving MMP3 × MMP7 × MMP9 that were associated with increased EGE risk (14 risk combinations) or decreased risk (10 protective combinations). Two MDR models for MMP allele combinations showed 100% penetrance with 83% and 78% accuracy. The paper’s main caveat is that, based on the provided abstract, it focuses on genetic association without reporting functional validation of how these variants alter MMP activity or endometriosis biology. This paper is centrally about endometriosis — it specifically tests associations between MMP3/MMP9 polymorphisms and development of external genital endometriosis using MDR gene–gene interaction models.
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References (23)
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Cited by (4)
- Matrix metalloproteinase and tissue inhibitors of metalloproteinases gene polymorphisms in disorders that influence fertility and pregnancy complications: A systematic review and meta-analysis 2018
- ‘Omic’ high-throughput technologies in research on pathogenesis of endometriosis: a Review 2016
- Effect of matrix metalloproteinase promoter polymorphisms on endometriosis and adenomyosis risk: evidence from a meta-analysis 2016
- Association between matrix metalloproteinase-2 and matrix metalloproteinase-9 polymorphisms and endometriosis: A systematic review and meta-analysis 2015
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