新疆维吾尔族剥脱综合征患者LOXL1基因编码区位点多态性研究  

LOXL1 coding region haplotypes polymorphisms in exfoliation syndrome in Xinjiang Uygur population of China

作　　者：杨梦婷[1] 郭梦颖[1] 玛依努[1] 陈雪艺[1] 

机构地区：[1]新疆医科大学第一附属医院眼科,新疆维吾尔自治区乌鲁木齐市830054

出　　处：《眼科新进展》2016年第2期139-142,共4页Recent Advances in Ophthalmology

基　　金：国家自然科学基金资助(编号:14B0305A)~~

摘　　要：目的研究新疆维吾尔族人群中剥脱综合征（exfoliation syndrome,XFS）患者类赖氨酰氧化酶l（lysyl oxidase-like 1,LOXL1）基因编码区位点的多态性。方法选取152例维吾尔族XFS患者作为病例组和228名维吾尔族健康者作为对照组,抽取患者和健康对照组外周血2 m L,用im LDRTM多重SNP分型试剂盒对380个样本进行3个SNPs位点分型,对比分析病例组和对照组每个SNP位点的等位基因、基因型和单倍体多态性的差异。结果病例组的rs1048661：等位基因G与基因型GG频率高于对照组,差异有统计学意义,为发病的危险因素[OR（95%CI）：2.24（1.56~3.23）],OR（95%CI）：2.51（1.63~3.89）];病例组的rs3825942：等位基因G与基因型GG频率高于对照组,差异有统计学意义,为发病的危险因素[OR（95%CI）：4.60（2.56~8.28）,OR（95%CI）：6.17（3.22~11.84）]。病例组的rs2165241：等位基因T与基因型TT的频率高于对照组,差异有统计学意义,为发病的危险因素[OR（95%CI）：2.18（1.61~2.94）,OR（95%CI）：2.77（1.62~4.74）]。3个位点组成的单倍型G-G-T与疾病的发生密切相关[OR（95%CI）：2.20（1.63~2.96）,P〈0.05]。结论 LOXL1基因编码区的rs1048661、rs3825942、rs2165241位点与维吾尔族人群中XFS的发病密切相关。Objective To discuss the potential association of genetic variants across the lysyl oxidase-like 1 （LOXL1） gene in exfoliation syndrome （XFS） in Xinjiang Uygur population of China. Methods A total of 152 subjects with clinically diagnosed XFS and 228 normal controls in Uygurs were recruited. Genomic DNA was extracted from peripheral blood samples from the subjects, and three LOXL1 single-nucleotide polymorphisms（SNPs） of coding region （rs1048661, rs3825942 and rs2165241 ） were genotyped using the imLDRTM method. Genotype data were analyzed for single SNP as- sociations, and haplotype associations. Results The frequencies of G allele and GG gneotype of rs1048661 in the XFS group were significantly higer than those in the con- trol group ,which were the risk factors of XFS [ OR（ 95% CI） ： 2.24 （ 1.56 - 3.23 ） ,P 〈 0. 05, OR （95 % CI） ：2.51 （ 1.63 -3.89） ] ;The frequencies of G allele and GG gneotype of rs3825942 in the XFS group were significantly higer than those in the control group, which were the risk factors of XFS [ OR （ 95% CI） ： 4.60 （ 2.56 - 8.28 ）, P 〈 0.05, OR （95% CI）：6. 17 （3. 22 -11. 84）];The frequencies of T allele and TT gneotype of rs2165241 in the XFS group were significantly higher than those in the control group, which were the risk factors of XFS [ OR（95% CI） ：2. 18 （ 1.61 - 2.94） ,P 〈 0.05, OR （95% CI） ：2.77（ 1.62 -4.74） ]. The haplotypes G-G-T for all the three SNPs were deter- mined to be significantly associated with XFS[ OR（95% CI） ：2.20（ 1.63 - 2.96） ,P 〈 0.05]. Conclusion Three coding SNPs of LOXL1 （rs1048661, rs3825942 and rs2165241 ） were significantly associated with XFS in Xir0iang Uygur population of Chi- na.

关 键 词：类赖氨酰氧化酶1 剥脱综合征 维吾尔族 

分 类 号：R383.24[医药卫生—医学寄生虫学]