Pospiech, Ewelina, Chen, Yan, Kukla-Bartoszek, Magdalena, Breslin, Krystal, Aliferi, Anastasia, Andersen, Jeppe D., Ballard, David, Chaitanya, Lakshmi ORCID: 0000-0002-6736-5739, Freire-Aradas, Ana ORCID: 0000-0002-8135-5182, van der Gaag, Kristiaan J., Giron-Santamaria, Lorena ORCID: 0000-0003-0290-871X, Gross, Theresa E., Gysi, Mario, Huber, Gabriela, Mosquera-Miguel, Ana, Muralidharan, Charanya, Skowron, Malgorzata, Carracedo, Angel ORCID: 0000-0003-1085-8986, Haas, Cordula ORCID: 0000-0001-8122-1427, Morling, Niels ORCID: 0000-0002-9463-5087, Parson, Walther ORCID: 0000-0002-5692-2392, Phillips, Christopher ORCID: 0000-0002-9601-0128, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Sijen, Titia, Syndercombe-Court, Denise, Vennemann, Marielle, Wu, Sijie, Xu, Shuhua ORCID: 0000-0002-1975-1002, Jin, Li ORCID: 0000-0002-4546-2415, Wang, Sijia, Zhu, Ghu, Martin, Nick G., Medland, Sarah E., Branicki, Wojciech, Walsh, Susan, Liu, Fan ORCID: 0000-0001-9241-8161 and Kayser, Manfred (2018). Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA. Forensic Sci. Int.-Genet., 37. S. 241 - 252. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Pospiech, EwelinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chen, YanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kukla-Bartoszek, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Breslin, KrystalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aliferi, AnastasiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andersen, Jeppe D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ballard, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chaitanya, LakshmiUNSPECIFIEDorcid.org/0000-0002-6736-5739UNSPECIFIED
Freire-Aradas, AnaUNSPECIFIEDorcid.org/0000-0002-8135-5182UNSPECIFIED
van der Gaag, Kristiaan J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giron-Santamaria, LorenaUNSPECIFIEDorcid.org/0000-0003-0290-871XUNSPECIFIED
Gross, Theresa E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gysi, MarioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huber, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mosquera-Miguel, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muralidharan, CharanyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Skowron, MalgorzataUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carracedo, AngelUNSPECIFIEDorcid.org/0000-0003-1085-8986UNSPECIFIED
Haas, CordulaUNSPECIFIEDorcid.org/0000-0001-8122-1427UNSPECIFIED
Morling, NielsUNSPECIFIEDorcid.org/0000-0002-9463-5087UNSPECIFIED
Parson, WaltherUNSPECIFIEDorcid.org/0000-0002-5692-2392UNSPECIFIED
Phillips, ChristopherUNSPECIFIEDorcid.org/0000-0002-9601-0128UNSPECIFIED
Schneider, Peter M.UNSPECIFIEDorcid.org/0000-0003-0744-2349UNSPECIFIED
Sijen, TitiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Syndercombe-Court, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vennemann, MarielleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, SijieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Xu, ShuhuaUNSPECIFIEDorcid.org/0000-0002-1975-1002UNSPECIFIED
Jin, LiUNSPECIFIEDorcid.org/0000-0002-4546-2415UNSPECIFIED
Wang, SijiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhu, GhuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, Nick G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Medland, Sarah E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Branicki, WojciechUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walsh, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liu, FanUNSPECIFIEDorcid.org/0000-0001-9241-8161UNSPECIFIED
Kayser, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-166889
DOI: 10.1016/j.fsigen.2018.08.017
Journal or Publication Title: Forensic Sci. Int.-Genet.
Volume: 37
Page Range: S. 241 - 252
Date: 2018
Publisher: ELSEVIER IRELAND LTD
Place of Publication: CLARE
ISSN: 1878-0326
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; EYE COLOR; HIRISPLEX SYSTEM; COMMON VARIATION; READ ALIGNMENT; EDAR; LOCI; SCAN; IDENTIFICATION; ARCHITECTUREMultiple languages
Genetics & Heredity; Medicine, LegalMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/16688

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