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

2018
journal article
article
dc.abstract.enShape 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 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 to a previous model. Prediction outcomes of 2,504 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.pl
dc.affiliationPion Prorektora ds. badań naukowych i funduszy strukturalnych : Małopolskie Centrum Biotechnologiipl
dc.affiliationWydział Biologii : Instytut Zoologii i Badań Biomedycznychpl
dc.contributor.authorLiu, Fanpl
dc.contributor.authorChen, Yanpl
dc.contributor.authorZhu, Gupl
dc.contributor.authorHysi, Pirro G.pl
dc.contributor.authorWu, Sijiepl
dc.contributor.authorAdhikari, Kaustubhpl
dc.contributor.authorBreslin, Krystalpl
dc.contributor.authorPośpiech, Ewelina - 108809 pl
dc.contributor.authorHamer, Merel A.pl
dc.contributor.authorPeng, Fuduanpl
dc.contributor.authorMuralidharan, Charanyapl
dc.contributor.authorAcuna-Alonzo, Victorpl
dc.contributor.authorCanizales-Quinteros, Samuelpl
dc.contributor.authorBedoya, Gabrielpl
dc.contributor.authorGallo, Carlapl
dc.contributor.authorPoletti, Giovannipl
dc.contributor.authorRothhammer, Franciscopl
dc.contributor.authorBortolini, Maria Catirapl
dc.contributor.authorGonzalez-Jose, Rolandopl
dc.contributor.authorZeng, Changqingpl
dc.contributor.authorXu, Shuhuapl
dc.contributor.authorJin, Lipl
dc.contributor.authorUitterlinden, André G.pl
dc.contributor.authorIkram, M. Arfanpl
dc.contributor.authorvan Duijn, Cornelia M.pl
dc.contributor.authorNijsten, Tamarpl
dc.contributor.authorWalsh, Susanpl
dc.contributor.authorBranicki, Wojciech - 185426 pl
dc.contributor.authorWang, Sijiapl
dc.contributor.authorRuiz-Linares, Andréspl
dc.contributor.authorSpector, Timothy D.pl
dc.contributor.authorMartin, Nicholas G.pl
dc.contributor.authorMedland, Sarah E.pl
dc.contributor.authorKayser, Manfredpl
dc.date.accessioned2018-01-26T07:07:48Z
dc.date.available2018-01-26T07:07:48Z
dc.date.issued2018pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.number3pl
dc.description.physical559-575pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume27pl
dc.identifier.doi10.1093/hmg/ddx416pl
dc.identifier.eissn1460-2083pl
dc.identifier.issn0964-6906pl
dc.identifier.projectROD UJ / Ppl
dc.identifier.urihttps://ruj.uj.edu.pl/xmlui/handle/item/49314
dc.languageengpl
dc.language.containerengpl
dc.rightsUdzielam licencji. Uznanie autorstwa - Użycie niekomercyjne 4.0 Międzynarodowa*
dc.rights.licenceCC-BY-NC
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/legalcode.pl*
dc.share.typeotwarte czasopismo
dc.subtypeArticlepl
dc.titleMeta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hairpl
dc.title.journalHuman Molecular Geneticspl
dc.typeJournalArticlepl
dspace.entity.typePublication
dc.abstract.enpl
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 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 to a previous model. Prediction outcomes of 2,504 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.
dc.affiliationpl
Pion Prorektora ds. badań naukowych i funduszy strukturalnych : Małopolskie Centrum Biotechnologii
dc.affiliationpl
Wydział Biologii : Instytut Zoologii i Badań Biomedycznych
dc.contributor.authorpl
Liu, Fan
dc.contributor.authorpl
Chen, Yan
dc.contributor.authorpl
Zhu, Gu
dc.contributor.authorpl
Hysi, Pirro G.
dc.contributor.authorpl
Wu, Sijie
dc.contributor.authorpl
Adhikari, Kaustubh
dc.contributor.authorpl
Breslin, Krystal
dc.contributor.authorpl
Pośpiech, Ewelina - 108809
dc.contributor.authorpl
Hamer, Merel A.
dc.contributor.authorpl
Peng, Fuduan
dc.contributor.authorpl
Muralidharan, Charanya
dc.contributor.authorpl
Acuna-Alonzo, Victor
dc.contributor.authorpl
Canizales-Quinteros, Samuel
dc.contributor.authorpl
Bedoya, Gabriel
dc.contributor.authorpl
Gallo, Carla
dc.contributor.authorpl
Poletti, Giovanni
dc.contributor.authorpl
Rothhammer, Francisco
dc.contributor.authorpl
Bortolini, Maria Catira
dc.contributor.authorpl
Gonzalez-Jose, Rolando
dc.contributor.authorpl
Zeng, Changqing
dc.contributor.authorpl
Xu, Shuhua
dc.contributor.authorpl
Jin, Li
dc.contributor.authorpl
Uitterlinden, André G.
dc.contributor.authorpl
Ikram, M. Arfan
dc.contributor.authorpl
van Duijn, Cornelia M.
dc.contributor.authorpl
Nijsten, Tamar
dc.contributor.authorpl
Walsh, Susan
dc.contributor.authorpl
Branicki, Wojciech - 185426
dc.contributor.authorpl
Wang, Sijia
dc.contributor.authorpl
Ruiz-Linares, Andrés
dc.contributor.authorpl
Spector, Timothy D.
dc.contributor.authorpl
Martin, Nicholas G.
dc.contributor.authorpl
Medland, Sarah E.
dc.contributor.authorpl
Kayser, Manfred
dc.date.accessioned
2018-01-26T07:07:48Z
dc.date.available
2018-01-26T07:07:48Z
dc.date.issuedpl
2018
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.numberpl
3
dc.description.physicalpl
559-575
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
27
dc.identifier.doipl
10.1093/hmg/ddx416
dc.identifier.eissnpl
1460-2083
dc.identifier.issnpl
0964-6906
dc.identifier.projectpl
ROD UJ / P
dc.identifier.uri
https://ruj.uj.edu.pl/xmlui/handle/item/49314
dc.languagepl
eng
dc.language.containerpl
eng
dc.rights*
Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne 4.0 Międzynarodowa
dc.rights.licence
CC-BY-NC
dc.rights.uri*
http://creativecommons.org/licenses/by-nc/4.0/legalcode.pl
dc.share.type
otwarte czasopismo
dc.subtypepl
Article
dc.titlepl
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair
dc.title.journalpl
Human Molecular Genetics
dc.typepl
JournalArticle
dspace.entity.type
Publication

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