Objective: To evaluate the association of LOXL gene and XFS/XFG in Chinese population. Methods: Experimental research. Fifty unrelated patients from shenzhen Eye Hospital and Beijing Tongren Hospital with exfoliation syndrome or exfoliation glaucoma and 100 control subjects were included. All the seven exons and the splicing region were amplified by polymerase chain reaction (PCR) and were directly sequenced. The comparison of allelic frequencies and genotype frequencies between case and control groups was performed using standard χ(2) test. Result: Allelic association analysis showed that there were significant differences in the allelic distributions between the two groups for two loci in the LOXL gene: int6: 25975 C>A and ex7:26145 G>A. The frequency of A allele at int6: 25975 C>A was significantly higher in cases than in controls (χ(2)=92.31, P<0.01), OR=1.66(95%CI:1.42-1.96). The frequency of genotype CA was significantly higher in cases than in controls (χ(2)=109.09, P<0.01), OR=5.00 (95%CI: 2.87-8.70). The frequency of A allele of ex7: 26145 G>A was significantly higher in cases than in controls (χ(2)=79.25, P<0.01), OR=1.54 (95%CI: 1.33-1.78). The frequency of genotype GA was significantly higher in cases than in controls(χ(2)=91.30, P<0.01), OR=3.33 (95%CI: 2.18-5.09). Haplotype AA and AG were risk and haplotype CG was protective for the disease. Conclusions: Two loci in the LOXL1 gene were found to be associated with XFS/XFG. Further study is needed to unravel the effect of LOXL1 on thedevelopment of the disease.(Chin J Ophthalmol, 2017, 53: 294-299).
目的： 探讨中国人群中囊膜剥脱综合征（XFS）与LOXL1基因的关联。 方法： 实验研究。收集深圳市眼科医院和北京同仁医院XFS患者50例（病例组）及健康对照者100名（对照组）。对LOXL1基因的全部7个外显子及剪切区进行PCR扩增，PCR产物应用双脱氧终止法进行直接测序。采用病例-对照关联分析方法，对等位基因频率、基因型频率进行χ(2)检验，分析病例组及对照组间差异。 结果： 50例XFS患者中男性29例，女性14例，年龄54.0~87.0岁，平均（70.2±7.6）岁；对照组男性58例，女性42例，平均年龄（70.7±4.4）岁。除已报道的3个单核苷酸多态性位点（rs1048661、rs3825942和rs2165241）外，LOXL1基因2个等位基因位点int6: 25975 C>A和ex7:26145 G>A，病例组和对照组等位基因频率差异有统计学意义。位点int6: 25975 C>A，病例组中等位基因A频率高于对照组（χ(2)=92.31，P<0.01），等位基因A与疾病关联（OR=1.66，95%CI：1.42~1.96）。病例组中基因型CA频率高于对照组差异有统计学意义（χ(2)=109.09，P<0.01），基因型CA与疾病关联（OR=5.00，95%CI：2.87~8.70）。位点ex7:26145 G>A，病例组中等位基因A频率高于对照组，差异有统计学意义（χ(2)=79.25，P<0.01），等位基因A与疾病关联（OR=1.54，95%CI：1.33~1.78）。病例组中基因型GA频率高于对照组，差异有统计学意义（χ(2)=91.30，P<0.01），基因型GA与疾病关联（OR=3.33，95%CI：2.18~5.09）。单倍型分析，3种单倍型均与疾病相关，AA和AG是风险单倍型，CG是保护单倍型。 结论： 本研究报道的两个LOXL1基因等位基因位点与XFS相关联，但其改变对发病的影响目前尚不清楚，尚需进一步深入研究。（中华眼科杂志，2017，53：294-299）.
Keywords: Amino acid oxidoreductases; Exfoliation syndrome; Gene frequency; Genotype.