Association Between Single Nucleotidepolymorphisms At LOXL1 Promoter And Uygur Patients With Exfoliation Syndrome

Objective:This study aimed to assess the association between LOXL1 gene polymorphisms and XFS in Uygur population.Methods:One-hundred and fifty-two Uygur XFS patients without relativeness were enrolled from January to August in 2014, and 228ethnicity- and gender-matched normal controls were recruited at the same period from the same region. Each individual underwent comprehensive eye examinations and 5 ml peripheral blood was collected. Genomic DNA was extracted from peripheral blood.PCR-ligase detection response(LDR) sequencing was used to determine the allele and genotype frequencies of the six SNPs rs12914489, rs4886467, rs4558370, rs4461027,rs4886761 and rs16958477 in the promoter region of LOXL1 gene. The distribution frequency between the patients and normal controls was compared by χ2test. Logistic regression analysis was used for age adjustment. This study was approved by Ethic Committee of Xingjiang Medical University, and informed consent was obtained from the subjects.Results:rs12914489 site in the control group diverged from Hardy-Weinberg equilibrium(HWE)(P=0.033), and the rs4886467, rs4558370, rs4461027, rs4886761 and rs16958477 sites followed HWE. The frequencies of G allele and GG genotype of rs4886467 in the XFS group were lower than the control group(P=0.000, 0.001) and were the protective factors of XFS(OR=0.54, 95%CI: 0.40-0.74, P=0.000; OR=0.51, 95%CI:0.33-0.78,P=0.001); The frequencies of T allele and TT genotype of rs4558370 in the patient group were significantly higher than those in the control group(P=0.004, 0.002)and were the risk factors of XFS(OR=1.96, 95%CI: 1.23-3.11,P=0.004; OR=2.18, 95%CI:1.31-3.64,P=0.002); The frequencies of C allele and CC genotype of rs4461027 in the patient group were significantly higher than those in the control group(P=0.000,0.000) and were the risk factors of XFS(OR=2.25, 95%CI: 1.67-3.04,P=0.000;OR=3.06, 95%CI: 1.89-4.96,P=0.000); The frequencies of T allele and TT genotype of rs4886761 in the patient group were significantly higher than those in the control group(P=0.000, 0.000) and were the risk factors of XFS(OR=2.44, 95%CI: 1.79-3.33,P=0.000;OR=3.02, 95%CI: 1.63-5.60,P=0.000); The frequencies of C allele and CC genotype of rs16958477 in the patient group were significantly higher than those in the control group(P=0.000, 0.004) and were the risk factors of XFS(OR=2.00, 95%CI: 1.47-2.71,P=0.000;OR=2.37, 95%CI: 1.31-4.27,P=0.004).Conclusions:The risk alleles and genotype of rs4886467, rs4558370, rs4461027, rs4886761, rs16958477, The SNPs of promoter region of LOXL1 gene are associated with hereditary susceptibility of XFS individually in Uygur population. The SNP of rs4886467 locus is a protective factor, while the SNPs of rs4558370, rs4461027, rs4886761 and rs16958477 locus are risk factors for pathogenesis of XFS.