title: Polymorphisms in the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 and the risk of human adenomyosis.
abstract: The matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinases (TIMPs) may contribute to the development of adenomyosis. The aim of the present study was to investigate whether three single nucleotide polymorphisms (SNPs) in the promoter regions of MMP-2 (-1306C/T and -735C/T) and TIMP-2 (-418G/C) genes were related to the risk of adenomyosis development. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in 180 adenomyosis patients and 324 frequency-matched control women in a Chinese population. There were significant differences in allele frequencies and genotype distributions of the MMP-2 -1306C/T polymorphism between patients and control women (P = 0.01 and 0.04, respectively). The frequency of C allele in patients (92.2%) was significantly higher than in the controls (87.0%) (P = 0.01). Compared with the C/T+T/T genotypes, the C/C genotype could significantly increase the risk of adenomyosis development, with an odds ratio of 1.83 (95% CI = 1.13-2.96). However, no statistically significant difference was found in allele frequencies and genotype distributions of MMP-2 -735C/T and TIMP-2 -418G/C SNPs between the two groups (all P values > 0.05). Two polymorphisms of MMP-2 displayed linkage disequilibrium (D' = 0.74). The haplotype analysis suggested no significant association of four haplotypes with the risk of adenomyosis development. Our results indicated an association of MMP-2 -1306C/T polymorphism with the risk of adenomyosis, suggesting a potential role in adenomyosis development in North Chinese women.
authors.affiliation: Department of Obstetrics and Gynaecology, Hebei Medical University, Fourth Hospital, Shijiazhuang, China.
authors.forename: Shan
authors.initials: S
authors.lastname: Kang
authors.forename: Xiwa
authors.initials: X
authors.lastname: Zhao
authors.forename: Huimin
authors.initials: H
authors.lastname: Xing
authors.forename: Na
authors.initials: N
authors.lastname: Wang
authors.forename: Rongmiao
authors.initials: R
authors.lastname: Zhou
authors.forename: Shucheng
authors.initials: S
authors.lastname: Chen
authors.forename: Wansheng
authors.initials: W
authors.lastname: Li
authors.forename: Jian
authors.initials: J
authors.lastname: Zhao
authors.forename: Yanan
authors.initials: Y
authors.lastname: Duan
authors.forename: Donglan
authors.initials: D
authors.lastname: Sun
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004715:Endometriosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*; D014591:Uterine Diseases / Q000453:epidemiology / Q000235:genetics*
chemical_list: D019716:Tissue Inhibitor of Metalloproteinase-2; D020778:Matrix Metalloproteinase 2