DNA Polymorphism of the LOXL1 Promoter Region in Exfoliation Syndrome in Uygur Individuals in XinJiang, China

PURPOSE: On the basis of our previously reported work, the association of lysyl oxidase-like 1 (LOXL1) promoter region gene polymorphism with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in Uygur individuals was examined. METHODS: This was a case-control association trial. A total of 242 unrelated XFS/G and 310 control cases were assessed. The genotypes of 6 single nucleotide polymorphisms (SNPs) of the LOXL1 promoter (rs4886761, rs4886467, rs4558370, rs4461027, rs16958477, and rs12914489) were examined via direct sequencing. RESULTS: Each of the above SNPs had significant associations with XFS and XFG. The T allele of rs4886761 (OR (95% CI): 2.204 (1.711–2.838)), G of rs4886467 (OR (95% CI): 1.946 (1.513–2.503)), T of rs4461027 (OR (95% CI): 2.26 (1.773–2.881)), A of rs16958477 (OR (95% CI): 1.792 (1.399–2.297)), and G of rs12914489 (OR (95% CI): 1.103 (0.631–1.929)) independently predicted XFS/G. The genotypes TT and CC of rs4886761 (OR (95% CI): 5.655 (3.000–10.660) and 2.241 (1.473–3.408), respectively), TT and GG of rs4886467 (OR (95% CI): 4.026 (2.162–7.497) and 1.631 (1.08–2.463), respectively), CC and TT of rs4461027 (OR (95% CI): 5.245 (3.037–9.058) and 2.210 (1.37–3.564), respectively), CC and AA of rs16958477 (OR (95% CI): 3.530 (1.968–6.334) and 1.740 (1.145–2.646), respectively) also independently predicted XFS/G. The GGT and GTG haplotypes of rs12914489, rs4886467, and rs4558370 and TC and CT of rs4461027 and rs4886761 showed significant associations with XFS/G. CONCLUSIONS: These results confirmed LOXL1 as a susceptibility gene in XFS/XFG among Uygur individuals. The new SNPs of rs4886761, rs4886467, rs4461027, and rs16958477 polymorphisms are involved in the pathogenetic mechanism of XFS/G.