| Objective: To discuss the potential association of genetic variants across the loxl1(lysyl oxidase-like 1) gene in exfoliation syndrome(XFS) in Xinjiang Uygur population. Methods: 152 subjects with clinically diagnosed exfoliation syndrome and 228 normal controls were recruited in Uygurs. Genomic DNA was extracted from peripheral blood samples from the subjects, and six LOXL1 single-nucleotide polymorphisms(SNPs) including three SNPs in the promoter region(rs12914489,rs4886467,rs4558370) and three coding SNPs(rs1048661,rs3825942 and rs2165241)were genotyped using the imLDRTM method. Genotype data were analyzed for single SNP associations, and haplotype associations. Results: The Frequencies of G allele and GG gneotype of rs4886467 in the XFS group were significantly higer than those in the control group and were the protect factors of XFS(OR[95%CI]:0.54[0.40-0.74],0.51[0.33-0.78],P<0.05),The Frequencies of G allele and GG gneotype of rs4558370 in the XFS group were significantly higer than those in the control group and were the risk factors of XFS(OR[95%CI]:1.96[1.23-3.11],OR[95%CI]:2.18[1.31-3.64],P<0.05);The Frequencies of G allele and GG gneotype of rs1048661 in the XFS group were significantly higer than those in the control g-roup and were the risk factors of XFS(OR[95%CI]:2.24[1.56-3.23],OR[95%CI]:2.51[1.63-3.89],P<0.05);The Frequencies of G allele and GG gneotype of rs3825942 in the XFS group were significantly higer than those in the control group and were the risk factors of XFS(OR[95%CI]:4.60[2.56-8.28],OR[95%CI]:6.17[3.22-11.84],P<0.05);The Frequencies of T allele and TT gneotype of rs2165241 in the XFS group were significantly higer than those in the control group and were the risk factors of XFS(OR[95%CI]:2.18[1.61-2.94],OR[95%CI]:2.77[1.62-4.74],P<0.05).The haplotypes G-G-T for all the three SNPs were determined to be significan-tly associated with XFS(OR[95%CI]: 2.20[1.63-2.96],P<0.05).Conclus-ion: LOXL1 promoter SNPs(rs4886467,rs4558370)as well as the three coding SNPs(rs1048661,rs3825942 and rs2165241)were significantly associated with exfoliation syndromes in Xinjiang Uygur population.In addition,the risk alleles for rs12914489,a SNP located in the distal promoter region were independently associated with XFS in Caucasian’s study,the controls of rs1294489 slightly offset the HWE,the reason may was Sampling error.Therefore, this study without making further analysis, the poly morphism of rs12914489 in Xinjiang Uygur population with exfoliation syndrome r-emain further study. |