title: [Association of matrix metalloproteinases' polymorphisms of MMP3 and MMP9 with development of genital endometriosis].
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.
authors.forename: M I
authors.initials: MI
authors.lastname: Iarmolinskaia
authors.forename: A S
authors.initials: AS
authors.lastname: Molotkov
authors.forename: V F
authors.initials: VF
authors.lastname: Bezhenar'
authors.forename: N Iu
authors.initials: NIu
authors.lastname: Shved
authors.forename: T E
authors.initials: TE
authors.lastname: Ivashchenko
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
mesh_terms: D000483:Alleles; D004715:Endometriosis / Q000235:genetics* / Q000473:pathology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D019278:Matrix Metalloproteinase 3 / Q000235:genetics*; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012426:Russia
chemical_list: C511768:MMP3 protein, human; D019278:Matrix Metalloproteinase 3; C579270:MMP9 protein, human; D020780:Matrix Metalloproteinase 9