Objective In this study,we evaluate the association profiles of the lysyl oxidase-like 1 (LOXLI) gene polymorphisms with exfoliation syndrome in XFS Uygur population.Methods Case-control study.Sixty-four unrelated Uygur patients with XFS (including 7 patients with Exfoliation Syndrome Glaucoma) and 127 Uygur control subjects were included.All of control subjects were selected from the same area,passed through the same ophthalmic checks and confirmed without any expressions of XFS.Most of them suffered from cataract and other ophthalmic disease.Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661,rs2165241 and rs3825942) were analyzed by direct sequencing following PCR amplification,and a case-control association study was performed and judged by odd ratio (OR) with (95％ confidential interval).Results G allele of rs1048661 [OR:1.92 (1.14-3.22)],G of rs3825942 [OR:4.86 (2.02-11.68)],and T of rs2165241 [OR:3.98 (2.54-6.25)] were risk alleles for the disorder.The genotypes TT for rs2165241 [OR:2.20 (1.04-4.65)] were risk genotypes for the disease.Conclusion LOXL1 is a susceptibility gene of XFS in the Uygur populations.The risk alleles of rs1048661,rs3825942 and rs2165241 in Uygur subjects were identified to be significantly associated with XFS individually.%目的 探索新疆维吾尔族人群中LOXL1基因多态性与剥脱综合征(XFS)的相关性.方法 病例对照研究.研究对象共191例,分为病例组(64例XFS患者和7例XFS合并青光眼患者)和对照组(127例).对照组为来白同一地区,经相同的眼科检查确诊无XFS样表现的病例,多数患有白内障或眼表疾病.以聚合酶链反应直接测序的方法分析LOXL1基因rsl048661,rs2165241和rs3825942的基因型和等位基因频数,采用x2检验比较各基因型和等位基因在病例组、对照组间的分布频率差异以及用Haploview4.1软件进行Hardy-Weinberg遗传平衡定律的吻合度检验;计量资料以均数±标准差((x)±s)表示,相对危险度采用比值比(OR)和95％置信区间(CI)表示,根据各自的相对危险度即OR值(95％置信区间)分析判断LOXL1基因多态性与XFS的关联性.结果 rs2165241:基因型TT是危险因素[x2 =4.27,P=0.039;OR值为2.20(1.04 ～4.65)],等位基因T是危险因素[x2=37.89,P=0.000;OR值为3.98(2.54 ～6.25)];rs1048661:等位基因G是危险因素[x2=6.22,P=0.013;OR值为1.92(1.14 ～3.22)];rs3825942:等位基因G是危险因素[x2=14.73,P=0.000;OR值为4.86(2.02 ～ 11.68)].结论 新疆维吾尔族人群LOXL1基因rs2165241、rs1 04 8661和rs3825942基因型及等位基因分析显示与新疆维吾尔族XFS患者遗传易感性有关联,且每个多态位点均呈现明显较强的相关性.
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