OBJECTIVE: To investigate whether the tSNPs in VSX1, COL4A3, COL4A4 genes were associated with keratoconus in the Han Chinese population.
METHODS: Ninety-seven keratoconus patients and 101 healthy controls were used in this study. All cases were diagnosed on the basis of clinical examination, including corneal stromal thinning, Vogt’s striae, Fleischer’s ring, Munson’s sign, signs of videokeratography, and refractive errors. Twenty-one tSNPs were selected for association study in three genes. SNP genotyping was performed by Sequenom MassARRAY RS1000. Sequenom Typer 4.0 Software, PLINK, Haploview and SHEsis software platform were used to perform data management and analyses.
RESULTS: Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ² test (rs56157240, p = 0.0499, OR: 6.42, 95% CI: 0.77 - 53.78; rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77 - 53.78; rs6050307, p = 1.22×10-7, OR: 0.05, 95% CI: 0.01 - 0.23). Three Haplotypes in the VSX1 gene were found to be associated with risk of KTCN (p < 0.05).
CONCLUSIONS: Our findings confirmed previously reports that polymorphisms in VSX1 gene were associated with risk of KTCN in the Chinese population, suggesting an important determinant of KTCN development by VSX1 gene.