新疆维吾尔族人剥脱综合征与LOXL1基因变异的关系

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。

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

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.