High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population

Association studies have revealed that the rs1635529 polymorphism in the COL2A1 (collagen, type Ⅱ, α 1) gene may be a potential candidate for myopia development and may be associated with myopia in Caucasians. The aim of this study was to investigate the association of high myopia with 5 polymorphisms including rs1635529 in COL2A1 in a Chinese population. Genomic DNA samples were selected from our Genomic DNA Repository for Myopia. A total of 581 high myopia individuals (refraction ≤-6.00D, spherical equivalent) and 384 normal controls (refraction between -0.50D and +2.00D, spherical equivalent) from a Han Chinese cohort participated in the association study. Allelic discrimination assay was performed on five single nucleotide polymorphisms (SNPs) (rs1635529, rs60542319, rs1635530, rs1635531 and rs954326) in COL2A1 by direct sequence analysis of polymerase chain reaction products. The genotype, allele and haplotype frequencies of the SNPs between cases and controls were compared by Chi-square test for association analysis. Based on the results, SNPs at rs1635530 and rs1635531 were found to be monomorphic in all subjects. There was no statistically significant difference in genotype, allele and haplotype frequencies for the other three SNPs (rs1635529, rs60542319 and rs954326) between the high myopia group and the control group. We do not find evidence to support an association of SNP rs1635529 in COL2A1 with high myopia in the Chinese population studied, nor of the other two SNPs (rs60542319 and rs954326).