原发性闭角型青光眼易感基因位点统计模型预测分析研究  

Statistical model analysis of primary angle closure glaucoma associated genes and SNP

作　　者：桑景荭[1] 张业武[2] 王宁利[1] 

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科研究所,100730 [2]中国疾病预防控制中心信息中心

出　　处：《中华眼科杂志》2015年第3期210-214,共5页Chinese Journal of Ophthalmology

摘　　要：目的 评价相关易感基因位点检测对PACG患者的诊断效力.方法 实验研究.通过统计反演算和统计模拟的演算,对已知4个相关易感单核苷酸多态性（SNP）位点rs11024102（PLEKHA7）、rs3753841 （COL11A1）、rs1015213（PCMTD1-ST18）及rs1401999（ABCC5）检测的敏感性、特异性和阳性预测值进行评价.结果 在对单一SNP位点的统计模拟中,rs11024102（PLEKHA7）对PACG患者诊断的敏感性为55.88％,特异性为51.31％;rs3753841（COL11A1）诊断的敏感性为54.47％,特异性为51.00％;rs1015213（PCNTD1-ST18）诊断的敏感性为59.93％,特异性为45.32％;rs1401999（ABCC5）诊断的敏感性为52.97％,特异性为50.00％.4个SNP位点的阳性预测值曲线均贴近无效参考值.4个位点的联合作用在提高敏感度场景的统计模拟中,获得的ROC曲线下面积为0.51.在提高特异度的场景中,ROC曲线下面积为0.52.4个位点自由组合的统计模拟结果发现单一SNP位点和多个SNP位点组合的诊断效力均较差.结论 4个已知相关易感基因位点检测对PACG诊断效力差,尚不能作为单独的诊断试验用于临床筛查.Objective To evaluate GWAS significant associated SNP for primary angle closure glaucoma.Methods Experimental study.Taking advantage of different statistical models,the usefulness was evaluated by sensitivity,specificity and the area under the receiver-operating characteristic curve （ROC）,which indicates the accuracy of genetic profiling in discriminating between primary angle closure glaucoma patients and normal controls.Results rs11024102 （PLEKHA7）had a sensitivity of 55.88％ with a specificity of 51.31％ ; the sensitivity and specificity of rs3753841 （COL1 1 A1） was 54.47％ and 51.00％ respectively.The sensitivity of rs1015213 （PCNTD1-ST18） and rs1401999 （ABCC5） were 59.93％ and 52.97％.The specificity of these two SNP were 45.32％ and 50.00％.The positive predictive value curves of these four SNP were nearly reference line.The area under the curve （AUC） of four SNP combined was 0.51 and 0.52 in two situations.Conclusion These four GWAS significant SNP could not be used for primary angle closure glaucoma patients screening in clinic.

关 键 词：青光眼 闭角型 多态性 单核苷酸 载体蛋白质类 

分 类 号：R775.2[医药卫生—眼科]