Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population.

Background: Keratoconus (KC) is a complex degenerative disorder of the cornea. Genetic, environmental, and lifestyle factors may all contribute to the pathogenesis of KC. Most of the reported KC-associated SNPs have been detected in Caucasians and Australians. To investigate whether the reported associated SNPs can be found in a Chinese population, we performed a replication study of the significantly associated SNPs. Materials and Methods: A total of 210 unrelated Chinese KC patients and 191 unrelated controls were included in the present study. SNPs rs4954218 (Near RAB3GAP1 (5′)), rs4894535 ( FNDC3B), rs2956540 ( LOX), rs3735520 (Near HGF (5′)), rs1324183 ( MPDZ-NF1B), rs1536482 ( RXRA-COL5A1), rs7044529 ( COL5A1), rs2721051 (Near FOXO1 (3′)), rs9938149 ( BANP-ZNF469) and rs6050307 ( VSX1) were assessed for their association with KC. The genotype of each SNP was detected using the Sequenom MassARRAY-Assay. Results: SNP rs1324183 located in MPDZ-NF1B was associated with an increased risk of KC (OR = 3.108, 95% CI = 1.366-7.072, p = 0.005), and SNP rs2956540 in the LOX gene may confer a reduced risk of KC with a borderline p value in our population (OR = 0.664, 95% CI = 0.447-0.986, p = 0.042). No significant difference was observed between patients and controls in the other eight SNP genotypes and allele frequencies. Conclusions: The replication association of rs1324183 ( MPDZ-NF1B) with KC in our population and the results, which are identical to those in different populations, suggest that rs1324183 ( MPDZ-NF1B) is a common genetic risk for KC and should be further investigated. [ABSTRACT FROM AUTHOR]