Literature DB >> 21197618

Model-based prediction of human hair color using DNA variants.

Wojciech Branicki1, Fan Liu, Kate van Duijn, Jolanta Draus-Barini, Ewelina Pośpiech, Susan Walsh, Tomasz Kupiec, Anna Wojas-Pelc, Manfred Kayser.   

Abstract

Predicting complex human phenotypes from genotypes is the central concept of widely advocated personalized medicine, but so far has rarely led to high accuracies limiting practical applications. One notable exception, although less relevant for medical but important for forensic purposes, is human eye color, for which it has been recently demonstrated that highly accurate prediction is feasible from a small number of DNA variants. Here, we demonstrate that human hair color is predictable from DNA variants with similarly high accuracies. We analyzed in Polish Europeans with single-observer hair color grading 45 single nucleotide polymorphisms (SNPs) from 12 genes previously associated with human hair color variation. We found that a model based on a subset of 13 single or compound genetic markers from 11 genes predicted red hair color with over 0.9, black hair color with almost 0.9, as well as blond, and brown hair color with over 0.8 prevalence-adjusted accuracy expressed by the area under the receiver characteristic operating curves (AUC). The identified genetic predictors also differentiate reasonably well between similar hair colors, such as between red and blond-red, as well as between blond and dark-blond, highlighting the value of the identified DNA variants for accurate hair color prediction.

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Year:  2011        PMID: 21197618      PMCID: PMC3057002          DOI: 10.1007/s00439-010-0939-8

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  47 in total

1.  Predicting phenotype from genotype: normal pigmentation.

Authors:  Robert K Valenzuela; Miquia S Henderson; Monica H Walsh; Nanibaa' A Garrison; Jessica T Kelch; Orit Cohen-Barak; Drew T Erickson; F John Meaney; J Bruce Walsh; Keith C Cheng; Shosuke Ito; Kazumasa Wakamatsu; Tony Frudakis; Matthew Thomas; Murray H Brilliant
Journal:  J Forensic Sci       Date:  2010-02-11       Impact factor: 1.832

2.  A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.

Authors:  J Voisey; M Del C Gomez-Cabrera; D J Smit; J H Leonard; R A Sturm; A van Daal
Journal:  Pigment Cell Res       Date:  2006-06

3.  Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype.

Authors:  E A Grimes; P J Noake; L Dixon; A Urquhart
Journal:  Forensic Sci Int       Date:  2001-11-01       Impact factor: 2.395

4.  Regularization Paths for Generalized Linear Models via Coordinate Descent.

Authors:  Jerome Friedman; Trevor Hastie; Rob Tibshirani
Journal:  J Stat Softw       Date:  2010       Impact factor: 6.440

5.  Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence.

Authors:  Susan Walsh; Alexander Lindenbergh; Sofia B Zuniga; Titia Sijen; Peter de Knijff; Manfred Kayser; Kaye N Ballantyne
Journal:  Forensic Sci Int Genet       Date:  2010-10-14       Impact factor: 4.882

6.  SLC45A2: a novel malignant melanoma-associated gene.

Authors:  L P Fernandez; R L Milne; G Pita; J A Avilés; P Lázaro; J Benítez; G Ribas
Journal:  Hum Mutat       Date:  2008-09       Impact factor: 4.878

7.  Genetic determinants of hair, eye and skin pigmentation in Europeans.

Authors:  Patrick Sulem; Daniel F Gudbjartsson; Simon N Stacey; Agnar Helgason; Thorunn Rafnar; Kristinn P Magnusson; Andrei Manolescu; Ari Karason; Arnar Palsson; Gudmar Thorleifsson; Margret Jakobsdottir; Stacy Steinberg; Snaebjörn Pálsson; Fridbert Jonasson; Bardur Sigurgeirsson; Kristin Thorisdottir; Rafn Ragnarsson; Kristrun R Benediktsdottir; Katja K Aben; Lambertus A Kiemeney; Jon H Olafsson; Jeffrey Gulcher; Augie Kong; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nat Genet       Date:  2007-10-21       Impact factor: 38.330

8.  The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.

Authors:  Urszula Brudnik; Wojciech Branicki; Anna Wojas-Pelc; Piotr Kanas
Journal:  Exp Dermatol       Date:  2008-07-07       Impact factor: 3.960

Review 9.  Genetics of hair and skin color.

Authors:  Jonathan L Rees
Journal:  Annu Rev Genet       Date:  2003       Impact factor: 16.830

10.  A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

Authors:  Richard A Sturm; David L Duffy; Zhen Zhen Zhao; Fabio P N Leite; Mitchell S Stark; Nicholas K Hayward; Nicholas G Martin; Grant W Montgomery
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

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  38 in total

1.  The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population.

Authors:  Amke Caliebe; Melanie Harder; Rebecca Schuett; Michael Krawczak; Almut Nebel; Nicole von Wurmb-Schwark
Journal:  Eur J Hum Genet       Date:  2015-08-19       Impact factor: 4.246

2.  Common DNA variants predict tall stature in Europeans.

Authors:  Fan Liu; A Emile J Hendriks; Arwin Ralf; Annemieke M Boot; Emelie Benyi; Lars Sävendahl; Ben A Oostra; Cornelia van Duijn; Albert Hofman; Fernando Rivadeneira; André G Uitterlinden; Stenvert L S Drop; Manfred Kayser
Journal:  Hum Genet       Date:  2013-11-20       Impact factor: 4.132

3.  Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans.

Authors:  Leonie C Jacobs; Andreas Wollstein; Oscar Lao; Albert Hofman; Caroline C Klaver; André G Uitterlinden; Tamar Nijsten; Manfred Kayser; Fan Liu
Journal:  Hum Genet       Date:  2012-10-11       Impact factor: 4.132

4.  The Use of Forensic DNA Phenotyping in Predicting Appearance and Biogeographic Ancestry.

Authors:  Peter M Schneider; Barbara Prainsack; Manfred Kayser
Journal:  Dtsch Arztebl Int       Date:  2019-12-23       Impact factor: 5.594

5.  Skin pigmentation and genetic variants in an admixed Brazilian population of primarily European ancestry.

Authors:  Jeppe D Andersen; Olivia S Meyer; Filipa Simão; Juliana Jannuzzi; Elizeu Carvalho; Mikkel M Andersen; Vania Pereira; Claus Børsting; Niels Morling; Leonor Gusmão
Journal:  Int J Legal Med       Date:  2020-05-09       Impact factor: 2.686

6.  A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Authors:  Katerina Zorina-Lichtenwalter; Ryan N Lichtenwalter; Dima V Zaykin; Marc Parisien; Simon Gravel; Andrey Bortsov; Luda Diatchenko
Journal:  Hum Mol Genet       Date:  2019-06-15       Impact factor: 6.150

7.  HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

Authors:  Mijke Visser; Manfred Kayser; Robert-Jan Palstra
Journal:  Genome Res       Date:  2012-01-10       Impact factor: 9.043

8.  Genetic determination of human facial morphology: links between cleft-lips and normal variation.

Authors:  Stefan Boehringer; Fedde van der Lijn; Fan Liu; Manuel Günther; Stella Sinigerova; Stefanie Nowak; Kerstin U Ludwig; Ruth Herberz; Stefan Klein; Albert Hofman; Andre G Uitterlinden; Wiro J Niessen; Monique M B Breteler; Aad van der Lugt; Rolf P Würtz; Markus M Nöthen; Bernhard Horsthemke; Dagmar Wieczorek; Elisabeth Mangold; Manfred Kayser
Journal:  Eur J Hum Genet       Date:  2011-06-22       Impact factor: 4.246

Review 9.  Genetics of primary intraocular tumors.

Authors:  Nisha Nagarkatti-Gude; Yujuan Wang; Mohammad Javed Ali; Santosh G Honavar; Martine J Jager; Chi-Chao Chan
Journal:  Ocul Immunol Inflamm       Date:  2012-08       Impact factor: 3.070

10.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.

Authors:  Kasturee Jagirdar; Darren J Smit; Stephen A Ainger; Katie J Lee; Darren L Brown; Brett Chapman; Zhen Zhen Zhao; Grant W Montgomery; Nicholas G Martin; Jennifer L Stow; David L Duffy; Richard A Sturm
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-12       Impact factor: 4.693

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