title: The contribution of the genetic variations of the matrix metalloproteinase-1 gene to the genetic susceptibility of gastric cancer.
abstract: Matrix metalloproteinase-1 (MMP-1), an interstitial collagenase, is responsible for the proteolytic degradation of basement membrane and extracellular matrix. MMP-1 plays a major role in the invasion of gastric cancer (GC). The role of the genetic polymorphisms in the functional regions of MMP-1 on the risk of GC remains unclear. To identify the markers that contribute to the genetic susceptibility to GC, we examined the potential association between GC and nine single-nucleotide polymorphisms (rs 1799750, rs 498186, rs 475007, rs 514921, rs 494379, rs 996999, rs 2071232, rs 1938901, and rs 2239008) of the MMP-1 gene using the MassARRAY system in this study. The participants enrolled in this study included 422 patients with GC and 428 healthy subjects as the healthy controls from a Chinese Han population. The analysis revealed a weak association between the rs 1799750 (in the promoter region) genotype distribution and GC (p=0.020). The frequency of the 2G allele was significantly higher in the patients with GC than in the healthy controls (p=0.005, odds ratio [OR]=1.324, 95% confidence interval [CI]: 1.087-1.613). Moreover, the patients with the 2G/2G genotype of rs 1799750 had a significantly increased risk of cancer invasion compared with patients with the 1G/1G+1G/2G genotype (p=0.001, OR=0.505, 95% CI: 0.331-0.771). Strong linkage disequilibrium was observed in three blocks (D'>0.9). Significantly, more C-2G haplotypes (block 3) (p=0.0005 after Bonferroni correction) were found in GC subjects. These findings point to a role for MMP-1 promoter polymorphism in GC among a Han Chinese population, and may be informative for future genetic or biological studies on GC.
authors.affiliation: 1 Department of General Surgery, The First Hospital Affiliated to the Xinxiang Medical College , Xinxiang, China .
authors.forename: He
authors.initials: H
authors.lastname: Dedong
authors.forename: Zhang
authors.initials: Z
authors.lastname: Bin
authors.forename: Sun
authors.initials: S
authors.lastname: Peisheng
authors.forename: Xu
authors.initials: X
authors.lastname: Hongwei
authors.forename: Yang
authors.initials: Y
authors.lastname: Qinghui
mesh_terms: D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D020781:Matrix Metalloproteinase 1 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013274:Stomach Neoplasms / Q000201:enzymology / Q000235:genetics*
chemical_list: D020781:Matrix Metalloproteinase 1