Title
Prediction of eye, hair and skin colour in Latin Americans
Date Issued
01 July 2021
Access level
open access
Resource Type
journal article
Author(s)
Palmal S.
Adhikari K.
Fuentes-Guajardo M.
Silva de Cerqueira C.C.
Bonfante B.
Chacón-Duque J.C.
Sohail A.
Hurtado M.
Granja V.
Jaramillo C.
Arias W.
Lozano R.B.
Everardo-Martínez P.
Gómez-Valdés J.
Villamil-Ramírez H.
Hünemeier T.
Ramallo V.
Parolin M.L.
Gonzalez-José R.
Schüler-Faccini L.
Bortolini M.C.
Acuña-Alonzo V.
Canizales-Quinteros S.
Bedoya G.
Rothhammer F.
Balding D.
Faux P.
Ruiz-Linares A.
Publisher(s)
Elsevier Ireland Ltd
Abstract
Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. We find that Random Forest or Linear Regression are generally the best performing methods. We also compare the prediction accuracy of SNP sets defined in the CAN dataset (including 56, 101 and 120 SNPs for eye, hair and skin colour prediction, respectively) to the well-established HIrisPlex-S SNP set (including 6, 22 and 36 SNPs for eye, hair and skin colour prediction respectively). When training prediction models on the CAN data, we observe remarkably similar performances for HIrisPlex-S and the larger CAN SNP sets for the prediction of hair (categorical) and eye (both categorical and quantitative), while the CAN sets outperform HIrisPlex-S for quantitative, but not for categorical skin pigmentation prediction. The performance of HIrisPlex-S, when models are trained in a world-wide sample (although consisting of 80% Europeans, https://hirisplex.erasmusmc.nl), is lower relative to training in the CAN data (particularly for hair and skin colour). Altogether, our observations are consistent with common variation of eye and hair colour having a relatively simple genetic architecture, which is well captured by HIrisPlex-S, even in admixed Latin Americans (with partial European ancestry). By contrast, since skin pigmentation is a more polygenic trait, accuracy is more sensitive to prediction SNP set size, although here this effect was only apparent for a quantitative measure of skin pigmentation. Our results support the use of HIrisPlex-S in the prediction of categorical pigmentation traits for forensic purposes in Latin America, while illustrating the impact of training datasets on its accuracy.
Volume
53
Language
English
OCDE Knowledge area
Genética humana
Subjects
Scopus EID
2-s2.0-85104129267
PubMed ID
Source
Forensic Science International: Genetics
ISSN of the container
18724973
Sponsor(s)
Work leading to this publication was funded by grants from: the Leverhulme Trust ( F/07 134/DF ), BBSRC ( BB/I021213/1 ), the Excellence Initiative of Aix-Marseille University - A*MIDEX (a French “Investissements d′Avenir” programme, 2RUIZLRE/RHRE/ID18HRU201 and 20-07874), Universidad de Antioquia (CODI sostenibilidad de grupos 2013–2014 and MASO 2013–2014), the National Natural Science Foundation of China ( #31771393 ), the Scientific and Technology Committee of Shanghai Municipality ( 18490750300 ), Ministry of Science and Technology of China ( 2020YFE0201600 ), Shanghai Municipal Science and Technology Major Project ( 2017SHZDZX01 ) and the 111 Project ( B13016 ), China, Santander Research and Scholarship Award, Bogue Fellowship from University College London, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (Apoio a Núcleos de Excelência Program), Fundação de Aperfeiçoamento de Pessoal de Nível Superior.
Sources of information:
Directorio de Producción Científica
Scopus