rs17576

rs17576, also known as Gln279Arg or Q279R, is a SNP in exon 6 of the matrix metalloproteinase-9 MMP9 gene. The rs17576(G) allele encodes the Arg (R). In a study of 385 male veterans with greater than 20 pack-years of cigarette smoking, rs17576(G) allele carriers were at higher risk for chronic obstructive pulmonary disease (COPD). The rs17576(G;G) homozygous genotype was at 3-fold increased risk for COPD. A study of 744 Chinese patients with lung cancer found that the rs17576(G;G) genotype was associated with higher risk of lung cancer with metastasis (adjusted OR, 1.79, CI: 1.03-3.08) compared to the (A;A) genotype. rs17576 is also one of two SNPs in the MMP9 gene associated with increased risk for myocardial infarction, but not coronary artery disease. The relatively weak odds ratios for carriers of one rs17576(A) allele was 1.15 (p=0.26), and for (A;A) homozygotes, 1.09 (p=0.33). However, this study of 5,000+ Caucasian patients with heart disease also indicated that a composite genotype (i.e. unphased haplotype) of the two MMP9 SNPs (rs3918242 and rs17576, respectively) yielded a significant odds ratio of 1.25 (CI: 1.07 - 1.48, p=0.007) for the (C;T)/(A;G) combination compared to (C;C)/(G;G) combination genotypes. (IVS10-8C T; rs9406328) and (Q279R; rs17576) showed significant association with lumbar-disc herniation (odds ratio 3.03, 95% confidence interval 1.58-5.77) Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease. The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients. Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Matrix metalloproteinase-3 genotypes influence recovery from hepatitis B virus infection. Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis. Lack of association between the rs2664538 polymorphism in the MMP-9 gene and primary angle closure glaucoma in Singaporean subjects. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study. Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians. Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma. Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population. MMP-9 gene variants increase the risk for non-atopic asthma in children. Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Complex genetic mechanisms in glaucoma: an overview. Matrix metalloproteinase-9 genetic variations affect MMP-9 levels in obese children.