Genetic variation in TIMP1 but not MMPs predict excess FEV1 decline in two general population-based cohorts

Respiratory Research

Table 2 Characteristics of the genotyped SNPs

SNP name	rs number	Chromosome position of gene	Functionality
MMP1 G-1607GG	rs1799750	11q22-q23	G-insertion generates a new 5'-GGA-3' core recognition sequence for members of the ETS family of transcription factors
MMP2 C-1306T	rs243865	16q23	T-allele disrupts a Sp1 binding site, thereby lowering the promoter activity approximately twofold in macrophages and epithelial cells
MMP9 rs6065912	rs6065912	20q11.2-13.1	tagging SNP for MMP9 gene
MMP9 rs3918278	rs3918278		tagging SNP for MMP9 gene
MMP9 rs8113877	rs8113877		tagging SNP for MMP9 gene
MMP12 A-82G	rs2276109	11q22.2-22.5	A-allele has higher affinity for transcription factor AP-1 and and higher gene expression in reporter gene assays
MMP12 Asn357Ser	rs652438		located in the coding region of the hemopexin domain that is responsible for MMP12 activity, while the function of this polymorphism remains unknown
TIMP1 Phe124Phe	rs4898	Xp11.3-11.23	unknown
TIMP1 Ile158Ile	rs11551797		unknown
TIMP2 G-418C

Abbreviations: SNP Single Nucleotide Polymorphism; MMP Matrix Metallo Protease; TIMP Tissue Inhibitor of MMP; ETS E26 transformation-specific; Sp1 Stimulating Protein 1; AP-1 Activator Protein-1

ISSN: 1465-993X