Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA
2018-11
发表期刊FORENSIC SCIENCE INTERNATIONAL-GENETICS (IF:3.2[JCR-2023],3.5[5-Year])
ISSN1872-4973
卷号37页码:241-251
发表状态已发表
DOI10.1016/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
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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
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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.
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