Universidad Peruana Cayetano Heredia

Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

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dc.contributor.author Liu, Fan
dc.contributor.author Chen, Yan
dc.contributor.author Zhu, Gu
dc.contributor.author Hysi, Pirro G.
dc.contributor.author Wu, Sijie
dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Breslin, Krystal
dc.contributor.author Pospiech, Ewelina
dc.contributor.author Hamer, Merel A.
dc.contributor.author Peng, Fuduan
dc.contributor.author Muralidharan, Charanya
dc.contributor.author Acuna-Alonzo, Victor
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Bedoya, Gabriel
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, Giovanni
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Bortolini, Maria Catira
dc.contributor.author Gonzalez-Jose, Rolando
dc.contributor.author Zeng, Changqing
dc.contributor.author Xu, Shuhua
dc.contributor.author Jin, Li
dc.contributor.author Uitterlinden, André G.
dc.contributor.author Ikram, M. Arfan
dc.contributor.author van Duijn, Cornelia M.
dc.contributor.author Nijsten, Tamar
dc.contributor.author Walsh, Susan
dc.contributor.author Branicki, Wojciech
dc.contributor.author Wang, Sijia
dc.contributor.author Ruiz-Linares, Andrés
dc.contributor.author Spector, Timothy D.
dc.contributor.author Martin, Nicholas G.
dc.contributor.author Medland, Sarah E.
dc.contributor.author Kayser, Manfred
dc.date.accessioned 2018-11-30T17:17:15Z
dc.date.available 2018-11-30T17:17:15Z
dc.date.issued 2018
dc.identifier.uri https://hdl.handle.net/20.500.12866/4118
dc.description.abstract Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P < 5e-8). All except one (1p36.22 PEX14) were replicated with nominal significance in at least one of the 6 additional cohorts of European, Native American and East Asian origins. Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at the nominal significance level. A multivariable regression model revealed that 14 SNPs from different genes significantly and independently contribute to hair shape variation, reaching a cross-validated AUC value of 0.66 (95% CI: 0.62-0.70) and an AUC value of 0.64 in an independent validation cohort, providing an improved accuracy compared with a previous model. Prediction outcomes of 2504 individuals from a multiethnic sample were largely consistent with general knowledge on the global distribution of hair shape variation. Our study thus delivers target genes and DNA variants for future functional studies to further evaluate the molecular basis of hair shape in humans. en_US
dc.language.iso eng
dc.publisher Oxford University Press
dc.relation.ispartofseries Human Molecular Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject genes en_US
dc.subject genome en_US
dc.subject hair en_US
dc.subject single nucleotide polymorphism en_US
dc.subject genetics en_US
dc.subject native en_US
dc.subject americans en_US
dc.subject asian en_US
dc.subject genome-wide association study en_US
dc.title Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1093/hmg/ddx416
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 1460-2083


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