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 >or=26.0 mm in both eyes, or refractive error>or=-6.0 D in phakic cases) and >or=40 years of age were studied. Five hundred forty-six healthy, unrelated Japanese who were >or=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 chi2 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.