基于SNP位点的身高预测模型的评估  

Assessment of Height Prediction Model Based on SNPs Loci

作　　者：焦会永 孙亚男 景晓溪 刘京[2] 江丽[2] 李彩霞[2] 叶健[2] 刘凡 黄艳梅[1] 赵雯婷[2] JIAO Hui-yong;SUN Ya-nan;JING Xiao-xi;LIU Jing;JIIANG Li;LI Cai-xia;YE Jian;LIU Fan;HUANG Yan-mei;ZHAO Wen-ting(Department of Forensic Medicine, Xinxiang Medical University, Xinxiang 453003, China;Key Labo-ratory of Forensic Genetics,National Engineering Laboratory for Forensic Science, Beijing Engineering Re-search Center of Crime Scene Evidence Examination, Institute of Forensic Science, Ministry of Public Se-curity, PRC, Beijing 100038, China;Institute of Forensic Medicine and Laboratory Medicine, Jining Medical University, Jining 272067, China;Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100029, China)

机构地区：[1]新乡医学院法医学系,河南新乡453003 [2]公安部物证鉴定中心北京市现场物证检验工程技术研究中心现场物证溯源技术国家工程实验室法医遗传学公安部重点实验室,北京100038 [3]济宁医学院法医学与医学检验学院,山东济宁272067 [4]中国科学院北京基因组研究所,北京100029

出　　处：《法医学杂志》2018年第2期132-137,共6页Journal of Forensic Medicine

基　　金：国家自然科学基金资助项目(81471828);国家重点研发计划资助项目(2017YFC0803501);国家科技资源共享服务平台计划资助项目(YCZYPT[2017]01-3);中央级公益性科研院所基本科研业务费专项资金资助项目(2017JB025);法医遗传学公安部重点实验室开放课题资助项目(2017FGKFKT06)

摘　　要：目的根据报道的547个欧洲人群身高相关SNP位点构建中国汉族男性身高预测模型,评估此模型预测身高的准确性。方法采用Affymetrix SNP Array 6.0芯片和Hi Seq 4000测序平台对59例山东汉族男性样本进行DNA分型检测,并将这547个身高相关SNP位点作为预测因子,采用加权等位基因求和(weight allele sums,WAS)的计算方法建立预测模型。通过受试者工作特征曲线及曲线下面积(area under curve,AUC)对身高预测模型的准确性进行分析。结果样本全基因组关联分析未发现身高显著相关SNP位点。本研究用WAS法构建身高预测模型,获得的AUC值为0.67(95%置信区间为0.53~0.90)。结论用547个SNP位点的WAS模型预测山东汉族男性群体身高具有参考价值,但预测模型准确度的进一步提升需要通过筛选更多具有人群特异性的身高相关SNP位点来实现。Objective To establish a height prediction model of Chinese Han male based on the reported547 height-associated single nucleotide polymorphisms（SNPs） loci in Europeans, and assess its accuracy for height estimation. Methods The DNA typing was analyzed in 59 Han male samples of Shandong province by Affymetrix SNP Array 6.0 chip and Hi Seq 4000 sequencing platform. Prediction model was established using 547 height-associated SNPs loci as predictors and weight allele sums（WAS） as computing method. The accuracy of height prediction model was analysed using receiver operating characteristic（ROC） curve and area under curve（AUC）. Results There was no height-associated SNPs locus was found by genome-wide association studies. In present study, height prediction model was established by WAS and obtained an AUC of 0.67（95% CI： 0.53-0.90）. Conclusion It has reference value for predicting the height of Han male in Shandong province by WAS model based on 547 SNPs loci, while it is still necessary to further promote the accuracy of the prediction model by screening more height-associated SNPs loci with population heterogeneity.

关 键 词：法医遗传学 法医人类学 单核苷酸多态性 身高 预测 汉族 

分 类 号：DF795.2[医药卫生—法医学]