Single-Nucleotide Polymorphisms in the Promoter Region of Matrix Metalloproteinase-1,-2, and-3 in Japanese with High Myopia

PURPOSE. Polymorphisms in the promoter regions of matrix metalloproteinase (MMP) genes can cause variations in the expression of the MMP genes in the sclera that can lead to a greater susceptibility to axial elongation of the eye. The purpose of this study was to determine whether functional single-nucleotide polymorphisms (SNPs) in the MMP1, -2, and -3 promoter regions are associated with high myopia in the Japanese. METHODS. Seven hundred twenty-five unrelated Japanese patients with high myopia (axial length of >= 26.0 mm in both eyes, or refractive error >= -6.0 D in phakic cases) and >= 40 years of age were studied. Five hundred forty-six healthy, unrelated Japanese who were >= 40 years of age served as population-based control subjects. All the subjects were genotyped for the four functional SNPs MMP1-1607 1G/2G, MMP2 C-1306T, MMP2 C-735T, and MMP3-1612 5A/6A with an SNP assay. The distribution of the genotypes in the cases and control subjects was compared by the chi(2) test for trend. RESULTS. No significant difference was detected in the distribution of the four SNPs MMP1-1607 1G/2G (P = 0.92), MMP2 C-1306T (P = 0.83), MMP2 C-735T (P = 0.10), and MMP3 - 1612 5A/6A (P = 0.62), between the high myopia cases and the general-population controls. CONCLUSIONS. The four functional SNPs in the MMP1, -2, and -3 promoter regions do not play critical roles in the development of high myopia in the Japanese population. (Invest Ophthalmol Vis Sci. 2010;51:4432-4436) DOI:10.1167/iovs.09-4871