新疆维吾尔族人剥脱综合征与LOXL1基因变异的关系  

Relationship between genetic variation of LOXL1 and pseudoexfoliation syndrome in Uygur of Xinjiang

作　　者：徐晓燕[1] 谢小东[1] 古丽努尔.买买提 张艳君[2] 丁琳[1] 万新娟[1] 宋艳[1] 

机构地区：[1]新疆维吾尔自治区人民医院眼科 [2]新疆维吾尔自治区人民医院临床研究中心

出　　处：《国际眼科杂志》2014年第1期41-44,共4页International Eye Science

摘　　要：目的:探讨新疆维吾尔族人剥脱综合征与LOXL1基因变异的相关性。方法:以新疆维吾尔族为研究对象进行病例-对照研究,共纳入50例剥脱综合征者(病例组,男39例,女11例)及58例正常人(对照组,男40例,女18例),提取基因组DNA,采用PCR产物测序技术对LOXL1基因的3个变异位点(rs1048661、rs2165241和rs3825942)进行分型,并分析其与维吾尔族人剥脱综合征的关系。结果:病例组的平均年龄高于对照组(P=0.039)。病例组中rs2165241位点的CT、TT基因型频率高于对照组,差异有统计学意义(P=0.001);rs1048661、rs3825942位点的不同基因型分布频率在病例组、对照组间差异均无统计学意义(P=0.196,P=0.584)。在校正了年龄、性别后,rs2165241位点的CT基因型携带者的剥脱综合征发病风险为2.850(P=0.029),TT基因型携带者的剥脱综合征发病风险为13.398(P=0.001)。结论:LOXL1基因变异(rs2165241)可能与维吾尔族人剥脱综合征相关,T等位基因可能是新疆维吾尔族人剥脱综合征的易感因素。AIM：To investigate the relationship between genetic variations of LOXL1 gene and pseudoexfoliation syndrome in Chinese Uygur population. METHODS： Fifty patients with exfoliation syndrome （ case group, including 39 males and 11 females） and 58 cases of normal individuals （ control group, including 40 males and 18 females ） were randomly selected. Genomic DNA was extracted and 3 single nucleotide polymorphisms （ rs1048661, rs2165241 and rs3825942 ） of LOXL1 gene were genotyped using PCR -sequencing technology for all subjects.Then a case-control study was conducted. RESULTS： The average age of the case group was higher than that of the control group （P=0.039）.The distribution of the genotypes of rs1048661 and rs3825942 polymorphism was similar between case and controls （P =0.196, P =0.584 ）. The CT and TT genotype frequency of rs2165241were significantly higher in case group than that of the control group （ P=0.001 ） .After adjustment for age and gender, the odds ratio of exfoliation syndrome was 2.850 for carriers of the CT genotype （P=0.029）, and 13.398 for carriers of the TT genotype （P=0.001）. CONCLUSION： The genetic variations of LOXL1 gene （ rs2165241 ） may be associated with the exfoliation syndrome in Uygur.T allele may be the risk factor for the predisposing of exfoliation syndrome in Uygur.

关 键 词：剥脱综合征 变异(遗传学) 少数民族 

分 类 号：R771.3[医药卫生—眼科]