title: The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population.
abstract: In this study, we investigated the association between common variants in the matrix metalloproteinase-3 (MMP-3) gene and the risk of developing sporadic brain arteriovenous malformation (BAVM). We performed genotyping analyses for five single nucleotide polymorphisms (SNPs) in MMP-3 in a case-control study involving 319 Chinese patients with BAVM and 333 Chinese controls. The association between MMP-3 genotypes and the risk of developing BAVM was evaluated using logistic regression analyses. We found that the genotype frequencies were significantly different between patients and controls for the rs522616 A > G variant of MMP-3 (p = 0.02). Logistic regression analysis revealed that the variant genotype of this polymorphism was associated with a significantly decreased risk of BAVM (adjusted odds ratio = 0.62, 95% confidence interval = 0.44-0.87, p = 0.006 for the AG compared with the AA genotype; adjusted odds ratio=0.68, 95% confidence interval = 0.49-0.94, p = 0.019 for the AG + GG compared with the AA genotype). These findings indicate for the first time that the MMP-3 rs522616 polymorphism may contribute to the etiology of sporadic BAVM in the Chinese population.
authors.affiliation: Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhao
authors.forename: Peiliang
authors.initials: P
authors.lastname: Li
authors.forename: Weiwei
authors.initials: W
authors.lastname: Fan
authors.forename: Dan
authors.initials: D
authors.lastname: Chen
authors.forename: Yuxiang
authors.initials: Y
authors.lastname: Gu
authors.forename: Daru
authors.initials: D
authors.lastname: Lu
authors.forename: Fan
authors.initials: F
authors.lastname: Zhao
authors.forename: Jin
authors.initials: J
authors.lastname: Hu
authors.forename: Chaowei
authors.initials: C
authors.lastname: Fu
authors.forename: Xiancheng
authors.initials: X
authors.lastname: Chen
authors.forename: Liangfu
authors.initials: L
authors.lastname: Zhou
authors.forename: Ying
authors.initials: Y
authors.lastname: Mao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000201:enzymology / Q000235:genetics*; D008297:Male; D019278:Matrix Metalloproteinase 3 / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D019278:Matrix Metalloproteinase 3