原发性视网膜脱离与COL2A1基因单核苷酸多态性的关联性研究  

Association of rhegmatogenous retinal detachment with single nucleotide polymorphism of COL2A1 gene

作　　者：张雯[1] 迟昊[1] 薛中淇 徐曼云[1] 马建青[1] 郝娟[2,3] 庄文娟[2,3] 毕小军[2,3] ZHANG Wen CHI Hao XUE Zhongqi XU Manyun MA Jianqing HAO Juan ZHUANG Wenjuan BI Xiaojun(Ningxia Medical University, Yinchuan , 750004 China Ophthalmology Department, Ningxia People＇ s Hospital Yinchnan 750002, China The First Clinical Medical College, Northwest University for Nationalities, Yinchuan 750004, China)

机构地区：[1]宁夏医科大学,宁夏银川750004 [2]宁夏人民医院,宁夏银川750001 [3]西北民族大学第一附属医院,宁夏银川750002

出　　处：《宁夏医学杂志》2017年第3期209-212,共4页Ningxia Medical Journal

基　　金：宁夏自然科学基金资助项目(NZ14176);宁夏科技支撑计划项目对外合作专项(2014ZYH65)

摘　　要：目的探讨COL2A1基因单核苷酸多态性(SNP)与宁夏地区原发性视网膜脱离患者的相关性。方法采用病例-对照关联性研究,收集原发性视网膜脱离患者110例,同期收集排除其他遗传性眼病的年龄相关性白内障患者236例作为对照组。抽取所有受检者外周抗凝血5 m L,提取全血DNA。选取COL2A1基因的12个标签SNPs,通过i MLDR分型技术对SNP位点进行分型。采用SPSS 17.0统计软件对所有数据应用χ2检验和非条件Logistic回归分析在不同遗传模型下各位点的等位基因和基因型频率分布及关联性研究,并计算校正后的比值比(ORs)和95%可信区间(CIs)。结果原发性视网膜脱离病例组和对照组在12个SNPs中的等位基因频率和基因型频率分布比较差异无统计学意义(P>0.05)。基因型在显性模型、隐性模型、超显性模型下比较差异无统计学意义(P>0.05)。结论此研究未发现COL2A1基因的SNPs与宁夏地区原发性视网膜脱离的发病存在关联性,还有待进一步扩大样本量进行研究。Objective To investigate the association between single nucleotide polymorphism of COL2A1 gene and the patients with rhegmatogenous retinal detachment （RRD） in Ningxia District of China. Methods A total of 346 unrelated Ningxia subjects were recruited, 110 patients with RRD, and 236 controls （age -related cataract patients）, there were all from Ningxia Eye Hospital. Periphery blood 5 mL was collected from all subjects. 12 Tag single nucleotide polymorphisms of COL2A1 genes were genotyped for every individual using iMLDR typing technique. The relationships among the genotype and allele frequencies of COL2A1 with RRD patients were evalua- ted by non - conditional Logistic regression analysis withand adjusted odds ratios （ORs） and 95% confidence intervals （CIs） in different genetic models was established. Results There were no significant difference between cases and controls on distribution of genotype and allele frequency in 12 SNPs of COL2A1 gene. The significant difference was not observed among varied genetic models as well （P 〉 0.05 ）. Conclusion The study showsed that the COL2A1 gene has no significant association with RRD. It is needed to expand the sam- ple size for further research.

关 键 词：COL2A1基因 原发性视网膜脱离 单核苷酸多态性 基因型 等位基因 

分 类 号：R774.12[医药卫生—眼科]