| Objective: In this study, we evaluate the association profiles of the lysyloxidase-like1(LOXL1) gene polymorphisms with exfoliation syndrome in Uygurpopulation. Methods: Sixty-four unrelated Uygur patients with exfoliation syndrome and127Uygur control subjects were included. Genotypes of the three single nucleotidepolymorphisms (SNPs) of LOXL1(rs1048661, rs2165241and rs3825942) were analyzedby direct sequencing, and a case-control association study was performed. Results: Thethree SNPs were significantly associated with exfoliation syndrome (XFS) individually.G allele of rs1048661[OR (95%CI):1.92(1.14-3.22)], G of rs3825942[OR (95%CI):4.86(2.02-11.68)], and T of rs2165241[OR (95%CI):3.98(2.54-6.25)] were risk alleles forthe disorder. The genotypes GG for rs1048661[OR (95%CI):2.13(1.14-3.97)], GG forrs3825942[OR (95%CI):5.68(2.28-14.17)] and TT for rs2165241[OR (95%CI):6.13(2.68-14.01)] were risk genotypes for the disease. The haplotypes G-G for the SNPsrs1048661and rs3825942, G-T for the SNPs rs1048661and rs2165241and SNPsrs3825942and rs2165241were identified to be significantly associated with XFS, respectively. There were significant differences of the allelic and genotypic proportion indifferent gender/aged cases and controls for all the there SNPs. Conclusion: LOXL1is asusceptibility gene of XFS/XFG in the Uygur populations. The risk alleles of rs1048661,rs3825942and rs2165241in Uygur subjects were found to be similar with Iceland andUnited States and opposite to Han populations in China. |