Risk of macular degeneration affected by polymorphisms in Matrix metalloproteinase-2 A case-control study in Chinese Han population

The purpose of this study was to investigate the correlation of single nucleotide polymorphisms (SNPs) in Matrix metalloproteinase-2 (MMP-2) gene and the risk of age-related macular degeneration (AMD) in Chinese Han population. A total of 126 AMD patients and 141 healthy controls participated in this study. Genotypes of MMP-2 gene polymorphisms were identified by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). chi(2) test was used to detect the differences of genotypes and alleles frequencies between case and control groups. Relative risk of AMD was evaluated by odds ratios (ORs) with 95% confidence intervals (CIs). Distribution of variant allele carriers (computed tomography+ TT genotypes) of MMP-2 gene rs243865 SNP was significantly different between case and control groups, and might act as protective factors for the onset of AMD (P = .044, OR = 0.583, 95% CI = 0.344-0.987). Nevertheless, the T allele might reduce the AMD risk (P = .030, OR = 0.611, 95% CI = 0.390-0.956). However, no significant association existed between rs243865 and AMD risk in the subgroup analysis based on age. GA+AA genotypes of rs243866 SNP may associate with a decreased risk of AMD in the age <= 65 years subgroup (P = .028, OR = 0.399, 95% CI = 0.174-0.915). MMP-2 gene rs243865 and rs243866 SNPs associated with the risk of AMD. Further studies should be performed to confirm the results.