Pospiech, Ewelina ORCID: 0000-0001-8867-0727, Karlowska-Pik, Joanna ORCID: 0000-0001-9157-7355, Marcinska, Magdalena, Abidi, Sarah, Andersen, Jeppe Dyrberg, van den Berge, Margreet, Carracedo, Angel ORCID: 0000-0003-1085-8986, Eduardoff, Mayra, Freire-Aradas, Ana ORCID: 0000-0002-8135-5182, Morling, Niels ORCID: 0000-0002-9463-5087, Sijen, Titia, Skowron, Malgorzata, Soechtig, Jens, Syndercombe-Court, Denise, Weiler, Natalie, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Ballard, David, Borsting, Claus ORCID: 0000-0003-0421-7429, Parson, Walther ORCID: 0000-0002-5692-2392, Phillips, Chris and Branicki, Wojciech ORCID: 0000-0002-7412-5733 (2015). Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans. Forensic Sci. Int.-Genet., 19. S. 280 - 289. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

DNA-based prediction of hair morphology, defined as straight, curly or wavy hair, could contribute to an improved description of an unknown offender and allow more accurate forensic reconstructions of physical appearance in the field of forensic DNA phenotyping. Differences in scalp hair morphology are significant at the worldwide scale and within Europe. The only genome-wide association study made to date revealed the Trichohyalin gene (TCHH) to be significantly associated with hair morphology in Europeans and reported weaker associations for WNT10A and FRAS1 genes. We conducted a study that centered on six SNPs located in these three genes with a sample of 528 individuals from Poland. The predictive capacity of the candidate DNA variants was evaluated using logistic regression; classification and regression trees; and neural networks, by applying a 10-fold cross validation procedure. Additionally, an independent test set of 142 males from six European populations was used to verify performance of the developed prediction models. Our study confirmed association of rs11803731 (TCHH), rs7349332 (WNT10A) and rs1268789 (FRAS1) SNPs with hair morphology. The combined genotype risk score for straight hair had an odds ratio of 2.7 and these predictors explained similar to 8.2% of the total variance. The selected three SNPs were found to predict straight hair with a high sensitivity but low specificity when a 10-fold cross validation procedure was applied and the best results were obtained using the neural networks approach (AUC = 0.688, sensitivity = 91.2%, specificity = 23.0%). Application of the neural networks model with 65% probability threshold on an additional test set gave high sensitivity (81.4%) and improved specificity (50.0%) with a total of 78.7% correct calls, but a high non-classification rate (66.9%). The combined TTGGGG SNP genotype for rs11803731, rs7349332, rs1268789 (European frequency = 4.5%) of all six straight hair-associated alleles was identified as the best predictor, giving >80% probability of straight hair. Finally, association testing of 44 SNPs previously identified to be associated with male pattern baldness revealed a suggestive association with hair morphology for rs4679955 on 3q25.1. The study results reported provide the starting point for the development of a predictive test for hair morphology in Europeans. More studies are now needed to discover additional determinants of hair morphology to improve the predictive accuracy of this trait in forensic analysis. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Pospiech, EwelinaUNSPECIFIEDorcid.org/0000-0001-8867-0727UNSPECIFIED
Karlowska-Pik, JoannaUNSPECIFIEDorcid.org/0000-0001-9157-7355UNSPECIFIED
Marcinska, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abidi, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andersen, Jeppe DyrbergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van den Berge, MargreetUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carracedo, AngelUNSPECIFIEDorcid.org/0000-0003-1085-8986UNSPECIFIED
Eduardoff, MayraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Freire-Aradas, AnaUNSPECIFIEDorcid.org/0000-0002-8135-5182UNSPECIFIED
Morling, NielsUNSPECIFIEDorcid.org/0000-0002-9463-5087UNSPECIFIED
Sijen, TitiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Skowron, MalgorzataUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soechtig, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Syndercombe-Court, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weiler, NatalieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, Peter M.UNSPECIFIEDorcid.org/0000-0003-0744-2349UNSPECIFIED
Ballard, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borsting, ClausUNSPECIFIEDorcid.org/0000-0003-0421-7429UNSPECIFIED
Parson, WaltherUNSPECIFIEDorcid.org/0000-0002-5692-2392UNSPECIFIED
Phillips, ChrisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Branicki, WojciechUNSPECIFIEDorcid.org/0000-0002-7412-5733UNSPECIFIED
URN: urn:nbn:de:hbz:38-387616
DOI: 10.1016/j.fsigen.2015.09.004
Journal or Publication Title: Forensic Sci. Int.-Genet.
Volume: 19
Page Range: S. 280 - 289
Date: 2015
Publisher: ELSEVIER IRELAND LTD
Place of Publication: CLARE
ISSN: 1878-0326
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
MALE-PATTERN BALDNESS; EYE COLOR; SUSCEPTIBILITY VARIANTS; ANDROGENETIC ALOPECIA; SLOVENIAN POPULATION; CURLINESS; NETWORK; BIOLOGY; SYSTEM; GENEMultiple languages
Genetics & Heredity; Medicine, LegalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/38761

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