法医学杂志

法医学杂志 ›› 2018, Vol. 34 ›› Issue (2): 132-137.DOI: 10.3969/j.issn.1004-5619.2018.02.005

• 论著 • 上一篇    下一篇

基于SNP位点的身高预测模型的评估

焦会永1，2，孙亚男2，3，景晓溪4，刘  京2，江  丽2，李彩霞2，叶  健2，刘  凡4，黄艳梅1，赵雯婷2   

  1. 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
  • 发布日期:2018-04-25 出版日期:2018-04-28
  • 通讯作者: 黄艳梅，女，博士，教授，主要从事法医遗传学研究；E-mail：huangym369@163.com 赵雯婷，女，博士，副主任法医师，主要从事表型遗传推断研究；E-mail：wtzhao@sibs.ac.cn
  • 作者简介:焦会永（1989—），男，硕士研究生，主要从事法医遗传学研究；E-mail：jiaohuiyong1989@126.com
  • 基金资助:
    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）

Assessment of Height Prediction Model Based on SNPs Loci

JIAO Hui-yong1,2, SUN Ya-nan2,3, JING Xiao-xi4, LIU Jing2, JIIANG Li2, LI Cai-xia2, YE Jian2, LIU Fan4, HUANG Yan-mei1, ZHAO Wen-ting2   

  1. 1. Department of Forensic Medicine, Xinxiang Medical University, Xinxiang 453003, China; 2. Key Laboratory of Forensic Genetics, National Engineering Laboratory for Forensic Science, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Ministry of Public Security, PRC, Beijing 100038, China; 3. Institute of Forensic Medicine and Laboratory Medicine, Jining Medical University, Jining 272067, China; 4. Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100029, China
  • Online:2018-04-25 Published:2018-04-28

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643

被引次数

1

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HiSeq 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。

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

Abstract: Objective To establish a height prediction model of Chinese Han male based on the reported 547 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 HiSeq 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.

Key words: forensic genetics, forensic anthropology, single nucleotide polymorphism, body height, forecasting, Han nationality