ShanghaiTech University Knowledge Management System
Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA | |
Pospiech, Ewelina1,2; Chen, Yan3,4; Kukla-Bartoszek, Magdalena5; Breslin, Krystal6; Aliferi, Anastasia7; Andersen, Jeppe D.8; Ballard, David7; Chaitanya, Lakshmi9; Freire-Aradas, Ana10,11; van der Gaag, Kristiaan J.12; Giron-Santamaria, Lorena11; Gross, Theresa E.10; Gysi, Mario13; Huber, Gabriela14; Mosquera-Miguel, Ana11; Muralidharan, Charanya6; Skowron, Malgorzata15; Carracedo, Angel11,16; Haas, Cordula13; Morling, Niels8; Parson, Walther14,17; Phillips, Christopher11; Schneider, Peter M.10; Sijen, Titia12; Syndercombe-Court, Denise7; Vennemann, Marielle18; Wu, Sijie4,19; Xu, Shuhua4,19,20,21,22 ![]() | |
2018-11 | |
发表期刊 | FORENSIC SCIENCE INTERNATIONAL-GENETICS (IF:3.2[JCR-2023],3.5[5-Year]) |
ISSN | 1872-4973 |
卷号 | 37页码:241-251 |
发表状态 | 已发表 |
DOI | 10.1016/j.fsigen.2018.08.017 |
摘要 | Human head hair shape, commonly classified as straight, wavy, curly or frizzy, is an attractive target for Forensic DNA Phenotyping and other applications of human appearance prediction from DNA such as in paleogenetics. The genetic knowledge underlying head hair shape variation was recently improved by the outcome of a series of genome-wide association and replication studies in a total of 26,964 subjects, highlighting 12 loci of which 8 were novel and introducing a prediction model for Europeans based on 14 SNPs. In the present study, we evaluated the capacity of DNA-based head hair shape prediction by investigating an extended set of candidate SNP predictors and by using an independent set of samples for model validation. Prediction model building was carried out in 9674 subjects (6068 from Europe, 2899 from Asia and 707 of admixed European and Asian ancestries), used previously, by considering a novel list of 90 candidate SNPs. For model validation, genotype and phenotype data were newly collected in 2415 independent subjects (2138 Europeans and 277 non-Europeans) by applying two targeted massively parallel sequencing platforms, Ion Torrent PGM and MiSeq, or the MassARRAY platform. A binomial model was developed to predict straight vs. non-straight hair based on 32 SNPs from 26 genetic loci we identified as significantly contributing to the model. This model achieved prediction accuracies, expressed as AUC, of 0.664 in Europeans and 0.789 in non-Europeans; the statistically significant difference was explained mostly by the effect of one EDAR SNP in non-Europeans. Considering sex and age, in addition to the SNPs, slightly and insignificantly increased the prediction accuracies (AUC of 0.680 and 0.800, respectively). Based on the sample size and candidate DNA markers investigated, this study provides the most robust, validated, and accurate statistical prediction models and SNP predictor marker sets currently available for predicting head hair shape from DNA, providing the next step towards broadening Forensic DNA Phenotyping beyond pigmentation traits. |
关键词 | Head hair Hair shape Externally visible characteristics DNA prediction Forensic DNA Phenotyping Targeted massively parallel sequencing |
收录类别 | SCI ; SCIE |
语种 | 英语 |
资助项目 | [20/7.PR/2012] |
WOS研究方向 | Genetics & Heredity ; Legal Medicine |
WOS类目 | Genetics & Heredity ; Medicine, Legal |
WOS记录号 | WOS:000447183300036 |
出版者 | ELSEVIER IRELAND LTD |
WOS关键词 | GENOME-WIDE ASSOCIATION ; EYE COLOR ; HIRISPLEX SYSTEM ; COMMON VARIATION ; READ ALIGNMENT ; EDAR ; LOCI ; SCAN ; IDENTIFICATION ; ARCHITECTURE |
原始文献类型 | Article |
引用统计 | 正在获取...
|
文献类型 | 期刊论文 |
条目标识符 | https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/28149 |
专题 | 生命科学与技术学院_特聘教授组_徐书华组 |
通讯作者 | Kayser, Manfred |
作者单位 | 1.Jagiellonian Univ, Fac Biol, Inst Zool & Biomed Res, Gronostajowa St 9, PL-30387 Krakow, Poland 2.Jagiellonian Univ, Malopolska Ctr Biotechnol, Gronostajowa St 7A, PL-30387 Krakow, Poland 3.Chinese Acad Sci, Beijing Inst Genom, Key Lab Genom & Precis Med, Beichen West Rd 1-104, Beijing 100101, Peoples R China 4.Univ Chinese Acad Sci, 19 Yuquan Rd, Beijing 100049, Peoples R China 5.Jagiellonian Univ, Fac Biochem Biophys & Biotechnol, Gronostajowa St 7, PL-30387 Krakow, Poland 6.IUPUI, Dept Biol, Indianapolis, IN USA 7.Kings Coll London, Fac Life Sci & Med, Kings Forens, 150 Stamford St, London, England 8.Univ Copenhagen, Fac Hlth & Med Sci, Dept Forens Med, Sect Forens Genet, Frederik Vs Vej 11, DK-2100 Copenhagen, Denmark 9.Erasmus MC Univ, Med Ctr Rotterdam, Dept Genet Identificat, POB 2040, NL-3000 CA Rotterdam, Netherlands 10.Univ Cologne, Med Fac, Inst Legal Med, Melatengurtel 60-62, D-50823 Cologne, Germany 11.Univ Santiago de Compostela, Fac Med, Inst Forens Sci, Forens Genet Unit, R San Francisco S-N, Santiago De Compostela, Spain 12.Netherlands Forens Inst, Div Biol Traces, POB 24044, NL-2490 AA The Hague, Netherlands 13.Univ Zurich, Zurich Inst Forens Med, Winterthurerstr 190, CH-8057 Zurich, Switzerland 14.Med Univ Innsbruck, Inst Legal Med, Mullerstr 44, A-6020 Innsbruck, Austria 15.Jagiellonian Univ, Coll Med, Dept Dermatol, Skawinska St 8, PL-31066 Krakow, Poland 16.King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia 17.Penn State Univ, Forens Sci Program, 13 Thomas Bldg, University Pk, PA 16802 USA 18.Univ Munster, Inst Legal Med, Rontgenstr 23, D-48149 Munster, Germany 19.Chinese Acad Sci, Key Lab Computat Biol, CAS MPG Partner Inst Computat Biol, Shanghai Inst Biol Sci, 320 Yue Yang Rd, Shanghai 200031, Peoples R China 20.Fudan Univ, State Key Lab Genet Engn, 2005 Song Hu Rd, Shanghai 200438, Peoples R China 21.Fudan Univ, Minist Educ, Key Lab Contemporary Anthropol, Collaborat Innovat Ctr Genet & Dev,Sch Life Sci, 2005 Song Hu Rd, Shanghai 200438, Peoples R China 22.Shanghai Tech Univ, Sch Life Sci & Technol, 393 Middle Huaxia Rd, Shanghai 201210, Peoples R China 23.Royal Brisbane Hosp, Queensland Inst Med Res, Brisbane, Qld 4029, Australia |
推荐引用方式 GB/T 7714 | Pospiech, Ewelina,Chen, Yan,Kukla-Bartoszek, Magdalena,et al. Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA[J]. FORENSIC SCIENCE INTERNATIONAL-GENETICS,2018,37:241-251. |
APA | Pospiech, Ewelina.,Chen, Yan.,Kukla-Bartoszek, Magdalena.,Breslin, Krystal.,Aliferi, Anastasia.,...&Kayser, Manfred.(2018).Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA.FORENSIC SCIENCE INTERNATIONAL-GENETICS,37,241-251. |
MLA | Pospiech, Ewelina,et al."Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA".FORENSIC SCIENCE INTERNATIONAL-GENETICS 37(2018):241-251. |
条目包含的文件 | ||||||
文件名称/大小 | 文献类型 | 版本类型 | 开放类型 | 使用许可 |
修改评论
除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。