[Association analysis between LOXL1 gene and exfoliation syndrome]

Objective: To evaluate the association of LOXL gene and XFS/XFG in Chinese population. Methods: Experimental research. Fifty unrelated patients from shenzhen Eye Hospital and Beijing Tongren Hospital with exfoliation syndrome or exfoliation glaucoma and 100 control subjects were included. All the seven exons and the splicing region were amplified by polymerase chain reaction (PCR) and were directly sequenced. The comparison of allelic frequencies and genotype frequencies between case and control groups was performed using standard χ(2) test. Result: Allelic association analysis showed that there were significant differences in the allelic distributions between the two groups for two loci in the LOXL gene: int6: 25975 C>A and ex7:26145 G>A. The frequency of A allele at int6: 25975 C>A was significantly higher in cases than in controls (χ(2)=92.31, P<0.01), OR=1.66(95%CI:1.42-1.96). The frequency of genotype CA was significantly higher in cases than in controls (χ(2)=109.09, P<0.01), OR=5.00 (95%CI: 2.87-8.70). The frequency of A allele of ex7: 26145 G>A was significantly higher in cases than in controls (χ(2)=79.25, P<0.01), OR=1.54 (95%CI: 1.33-1.78). The frequency of genotype GA was significantly higher in cases than in controls(χ(2)=91.30, P<0.01), OR=3.33 (95%CI: 2.18-5.09). Haplotype AA and AG were risk and haplotype CG was protective for the disease. Conclusions: Two loci in the LOXL1 gene were found to be associated with XFS/XFG. Further study is needed to unravel the effect of LOXL1 on thedevelopment of the disease.(Chin J Ophthalmol, 2017, 53: 294-299).