[Association of matrix metalloproteinases' polymorphisms of MMP3 and MMP9 with development of genital endometriosis]

Iarmolinskaia Mi, M I Iarmolinskaia, A S Molotkov, Molotkov AS, А. С. Молотков, Bezhenar' Vf, V F Bezhenar', N Iu Shved, Shved NIu, T E Ivashchenko, Ivashchenko TE, V S Baranov, Baranov VS, В. С. Баранов
Genetika · 2014 · vol. 50(2) , pp. 230–5 · PMID:25711032 · W2408327824
Observational OA: closed CC0 ⤵ 7 in-corpus citations
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This study investigated matrix metalloproteinase gene polymorphisms and found that specific combinations of MMP3 and MMP9 alleles are associated with an increased or reduced risk of external genital endometriosis.

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Abstract

We present a comparative analysis of the allelic polymorphism of the matrix metalloproteinase (MMP) gene family, including MMP3 (rs3025058), MMP7 (rs11568818), MMP9 (rs17576, rs2250889), MMP12 (rs2276109), and MMP13 (rs2252070), in patients with external genital endometriosis (EGE) and in a control group of healthy women proven to be free of disease by laparoscopic inspection. We found significant differences in the incidence of particular MMP3 and MMP9 alleles, which substantiate the role of matrix metalloproteinases in EGE pathogenesis. We used the Multifactor Dimensionality Reduction (MDR) analysis to show that 14 allelic combinations of the MMP containing MMP3 (rs3025058) x MMP7 (rs11568818) x MMP9 (rs17576) alleles showed a statistically significant association with an increased risk of EGE, while 10 other combinations correlated with a reduced risk of the disease. MDR analysis produced two statistically significant models for MMP allelic combinations involved in EGE progression, both with 100% penetrance and 83% and 78% accuracy.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Matrix Metalloproteinase 3 Matrix Metalloproteinase 9 Alleles Alleles Endometriosis Endometriosis Endometriosis Ethnicity Ethnicity Ethnicity Female Female Genetic Association Studies Genetic Association Studies Humans Humans Matrix Metalloproteinase 3 Matrix Metalloproteinase 3 Matrix Metalloproteinase 9

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