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 χ2 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 (χ2=92.31, P A was significantly higher in cases than in controls (χ2=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(χ2=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) Key words: Exfoliation syndrome; Amino acid oxidoreductases; Genotype; Gene frequency