title: MMP9 polymorphisms and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study.
abstract: In addition to tumor invasion and angiogenesis, matrix metalloproteinase (MMP)9 also contributes to carcinogenesis and tumor growth. Genetic variation that may influence MMP9 expression was evaluated among participants of the Shanghai Breast Cancer Genetics Study (SBCGS) for associations with breast cancer susceptibility. In stage 1, 11 MMP9 single nucleotide polymorphisms (SNPs) were genotyped by the Affymetrix Targeted Genotyping System and/or the Affymetrix Genome-Wide Human SNP Array 6.0 among 4,227 SBCGS participants. One SNP was further genotyped using the Sequenom iPLEX MassARRAY platform among an additional 6,270 SBCGS participants. Associations with breast cancer risk were evaluated by odds ratios (OR) and 95% confidence intervals (CI) from logistic regression models that included adjustment for age, education, and genotyping stage when appropriate. In Stage 1, rare allele homozygotes for a promoter SNP (rs3918241) or a non-synonymous SNP (rs2274756, R668Q) tended to occur more frequently among breast cancer cases (P value = 0.116 and 0.056, respectively). Given their high linkage disequilibrium (D' = 1.0, r (2) = 0.97), one (rs3918241) was selected for additional analysis. An association with breast cancer risk was not supported by additional Stage 2 genotyping. In combined analysis, no elevated risk of breast cancer among homozygotes was found (OR: 1.2, 95% CI: 0.8-1.8). Common genetic variation in MMP9 was not found to be significantly associated with breast cancer susceptibility among participants of the Shanghai Breast Cancer Genetics Study.
authors: Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA. alicia.beeghly@vanderbilt.edu
authors: Alicia
authors: A
authors: Beeghly-Fadiel
authors: Wei
authors: W
authors: Lu
authors: Xiao-Ou
authors: XO
authors: Shu
authors: Jirong
authors: J
authors: Long
authors: Qiuyin
authors: Q
authors: Cai
authors: Yongbin
authors: Y
authors: Xiang
authors: Yu-Tang
authors: YT
authors: Gao
authors: Wei
authors: W
authors: Zheng
mesh_terms: D000328:Adult; D044466:Asian People; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D016015:Logistic Models; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012307:Risk Factors
chemical_list: D020780:Matrix Metalloproteinase 9