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

Abstract

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.