The Relationship Between LOXL1 Promoter Haplotypes With Exfoliation Syndrome In The Uygur Population

Objective:The purpose of this study is to invest the association of LOXL1 g ene promoter haplotypes with exfoliation syndrome in Xinjiang Uygur population, t o further understand the pathogenesis of exfoliation syndrome. Methods:152 subje cts with clinically diagnosed exfoliation syndrome and 228 normal controls were re cruited in Uygers. Genomic DNA was extracted from peripheral blood samples fro m the subjects, and six LOXL1 single-nucleotide polymorphisms(SNP) including thr ee SNP in the promoter region (rs4661027,rs4886761,rs16958477) and three coding SNP (rs1048661,rs3825942 and rs2165241) were genotyped using the imLDRTM method. Genotype data were analyzed for single SNP associations, and haplotype a ssociations. Results:The three LOXL1 promoter SNP and three coding SNP were significantly associated with exfoliation syndrome individually. The C allele of rs44 61027(OR[95%CI]:2.25[1.67-3.04],P<0.05), T of rs4886761(OR[95%CI]:2.44[1.79-3.3 3],P<0.05), C of rs16958477(OR[95%CI]:2.00[1.47-2.71],P<0.05), G of rs-1048661 (OR[95%CI]:2.24[1.56-3.23],P<0.05),G of rs3825942 (OR[95%CI]:4.60[2.56-8.28],p< 0.05) and T of rs2165241(OR[95%CI]:2.18[1.61-2.94],P<0.05)were risk alleles for t he disorder.The haplotypes C-T-C-G-G-T for all the six SNP were determined to b e significantly associated with XFS(OR[95%CI]:2.04[1.48-2.83],P<0.05). Conclusion: LOXL1 promoter SNP(rs4661027,rs4886761,rs16958477)as well as the three coding SNP (rs1048661,rs3825942 and rs2165241)were significantly associated with exfoliat ion syndromes in the Uygur population. Interestingly, the C allele of rs16958477 s howed to confer increased risk of XFS in Uygur populations while it is associated with reduced risk in Caucasian’s study, implying that additional genetic or environ mental factors may be involved in the phenotypic expression of exfoliation syndro me in the Uygur.