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

doi:10.1093/hmg/ddx416

	Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair
	Liu, Fan 1,2,3; Chen, Yan 1,3; Zhu, Gu 4; Hysi, Pirro G.5; Wu, Sijie 3,6; Adhikari, Kaustubh 7; Breslin, Krystal 8; Pospiech, Ewelina 9,10; Hamer, Merel A.11; Peng, Fuduan 3; Muralidharan, Charanya 8; Acuna-Alonzo, Victor 12; Canizales-Quinteros, Samuel 13; Bedoya, Gabriel 14; Gallo, Carla 15; Poletti, Giovanni 15; Rothhammer, Francisco 16; Bortolini, Maria Catira 17; Gonzalez-Jose, Rolando 18; Zeng, Changqing 1; Xu, Shuhua6,19,20,21 ; Jin, Li 3,19,20; Uitterlinden, Andre G.22,23; Ikram, M. Arfan 23; van Duijn, Cornelia M.23; Nijsten, Tamar 11; Walsh, Susan 8; Branicki, Wojciech 10,24; Wang, Sijia 3,6,19,20; Ruiz-Linares, Andres 7,25,26,27,28; Spector, Timothy D.5; Martin, Nicholas G.4; Medland, Sarah E.4; Kayser, Manfred 2
	2018-02
发表期刊	HUMAN MOLECULAR GENETICS (IF:3.1[JCR-2023],4.2[5-Year])
ISSN	0964-6906
卷号	27 期号:3 页码:559-575
发表状态	已发表
DOI	10.1093/hmg/ddx416
摘要	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.
收录类别	SCI ; SCIE
语种	英语
资助项目	US Department of Defense (DOD)[DURIP-66843LSRIP-2015]
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS类目	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS记录号	WOS:000424136000014
出版者	OXFORD UNIV PRESS
WOS关键词	GROWTH-FACTOR RECEPTOR ; ECTODERMAL DYSPLASIA ; SKIN ; EXPRESSION ; FOLLICLE ; COLOR ; GENE ; ABNORMALITIES ; POPULATION ; MUTATIONS
原始文献类型	Article
引用统计	被引频次：55[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/16286
专题	生命科学与技术学院_特聘教授组_徐书华组
通讯作者	Liu, Fan; Medland, Sarah E.; Kayser, Manfred
作者单位	1.Chinese Acad Sci, Beijing Inst Genom, Key Lab Genom & Precis Med, Beichen West Rd 1-104, Beijing 100101, Peoples R China 2.Erasmus MC Univ, Med Ctr Rotterdam, Dept Genet Identificat, Rotterdam, Netherlands 3.Univ Chinese Acad Sci, Beijing, Peoples R China 4.QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia 5.Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England 6.Chinese Acad Sci, Shanghai Inst Biol Sci, CAS MPG Partner Inst Computat Biol, Key Lab Computat Biol, Shanghai, Peoples R China 7.UCL, Dept Genet Evolut & Environm, Mortimer St, London WC1E 6BT, England 8.Indiana Univ Purdue Univ, Dept Biol, Indianapolis, IN 46205 USA 9.Jagiellonian Univ, Fac Biol & Earth Sci, Inst Zool & Biomed Res, Krakow, Poland 10.Jagiellonian Univ, Malopolska Ctr Biotechnol, Krakow, Poland 11.Erasmus MC Univ, Med Ctr Rotterdam, Dept Dermatol, Rotterdam, Netherlands 12.Escuela Nacl Antropol & Hist, Lab Genet Mol, Mexico City, DF, Mexico 13.Univ Nacl Autonoma Mexico, Inst Nacl Med Genom, Fac Quim, Unidad Genom Poblac Aplicada Salud, Mexico City, DF, Mexico 14.Univ Antioquia, GENMOL Genet Mol, Medellin, Colombia 15.Univ Peruana Cayetano Heredia, Fac Ciencias & Filosofia, Lab Invest & Desarrollo, Lima, Peru 16.Univ Tarapaca, Inst Alta Invest, Arica, Chile 17.Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil 18.CENPAT CONICET, Inst Patagon Ciencias Sociales & Humanas, Puerto Madryn, Argentina 19.Fudan Univ, State Key Lab Genet Engn, Shanghai, Peoples R China 20.Fudan Univ, Minist Educ, Key Lab Contemporary Anthropol, Collaborat Innovat Ctr Genet & Dev,Sch Life Sci, Shanghai, Peoples R China 21.Shanghai Tech Univ, Sch Life Sci & Technol, Shanghai, Peoples R China 22.Erasmus MC Univ, Med Ctr, Dept Internal Med, Rotterdam, Netherlands 23.Erasmus MC Univ, Med Ctr, Dept Epidemiol, Rotterdam, Netherlands 24.Cent Forens Lab Police, Warsaw, Poland 25.Fudan Univ, Minist Educ, Key Lab Contemporary Anthropol, Shanghai, Peoples R China 26.Fudan Univ, Collaborat Innovat Ctr Genet & Dev, Shanghai, Peoples R China 27.Aix Marseille Univ, CNRS, Lab Biocultural Anthropol Law Eth & Hlth, Marseille, France 28.Aix Marseille Univ, Etab Francais Sang, Marseille, France
推荐引用方式 GB/T 7714	Liu, Fan,Chen, Yan,Zhu, Gu,et al. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair[J]. HUMAN MOLECULAR GENETICS,2018,27(3):559-575.
APA	Liu, Fan.,Chen, Yan.,Zhu, Gu.,Hysi, Pirro G..,Wu, Sijie.,...&Kayser, Manfred.(2018).Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.HUMAN MOLECULAR GENETICS,27(3),559-575.
MLA	Liu, Fan,et al."Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair".HUMAN MOLECULAR GENETICS 27.3(2018):559-575.