Evaluating the association between calpastatin (CAST) gene and keratoconus in the Han Chinese population.

PURPOSE: To investigate whether calpastatin (CAST) gene polymorphisms are in association with keratoconus (KC) in Han Chinese population.

METHODS: Four SNPs (rs4434401, rs7704167, rs26504, and rs10053056) in CAST gene were genotyped in 120 unrelated Han Chinese KC patients and 305 age and gender matched healthy controls, using TaqMan SNP genotyping method. PLINK and LDmatrix software was used for data analysis.

RESULTS: SNP rs4434401, whose contribution to KC susceptibility has been established in Caucasians, still kept its effect in our population. The C allele frequency of rs4434401 was markedly higher in cases (27.7%) than in the controls (20.7%, P = 0.03654, OR = 1.47, 95%CI = 1.02-2.11). The genotype distribution of rs4434401 showed marginal difference between KC cases and controls. The allelic and genotype frequencies of other three tested SNPs showed no significant difference between cases and controls.

CONCLUSION: We confirmed previous report that SNP(s) in CAST gene conferred risk for KC susceptibility in Han Chinese population, suggesting the potential contribution of CAST gene to KC development.