Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
29220522
TITLE
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.
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 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.
The Author 2017. Published by Oxford University Press.
DATE PUBLISHED
2017 Dec 06
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2017/09/05
accepted 2017/11/29
entrez 2017/12/09 06:00
pubmed 2017/12/09 06:00
medline 2017/12/09 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Liu F Liu Fan F University of Chinese Academy of Sciences, Beijing, China.
Chen Y Chen Yan Y University of Chinese Academy of Sciences, Beijing, China.
Zhu G Zhu Gu G Queensland Institute of Medical Research, Brisbane, Australia.
Hysi PG Hysi Pirro G PG Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Wu S Wu Sijie S Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
Adhikari K Adhikari Kaustubh K Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, United Kingdom.
Breslin K Breslin Krystal K Department of Biology, Indiana-University-Purdue-University-Indianapolis (IUPUI), Indianapolis, Indiana, USA.
Pospiech E Pospiech Ewelina E Malopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.
Hamer MA Hamer Merel A MA Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Peng F Peng Fuduan F University of Chinese Academy of Sciences, Beijing, China.
Muralidharan C Muralidharan Charanya C Department of Biology, Indiana-University-Purdue-University-Indianapolis (IUPUI), Indianapolis, Indiana, USA.
Acuna-Alonzo V Acuna-Alonzo Victor V Laboratorio de Genética Molecular, Escuela Nacional de Antropologia e Historia, México City, México.
Canizales-Quinteros S Canizales-Quinteros Samuel S Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México City, México.
Bedoya G Bedoya Gabriel G GENMOL (Genética Molecular), Universidad de Antioquia, Medellín, Colombia.
Gallo C Gallo Carla C Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.
Poletti G Poletti Giovanni G Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.
Rothhammer F Rothhammer Francisco F Instituto de Alta Investigación, Universidad de Tarapacá, Arica, Chile.
Bortolini MC Bortolini Maria Catira MC Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil.
Gonzalez-Jose R Gonzalez-Jose Rolando R Instituto Patagónico de Ciencias Sociales y Humanas, CENPAT-CONICET, Puerto Madryn, Argentina.
Zeng C Zeng Changqing C Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
Xu S Xu Shuhua S School of Life Science and Technology, Shanghai Tech University, Shanghai, China.
Jin L Jin Li L State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Uitterlinden AG Uitterlinden André G AG Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Ikram MA Ikram M Arfan MA Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
van Duijn CM van Duijn Cornelia M CM Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Nijsten T Nijsten Tamar T Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Walsh S Walsh Susan S Department of Biology, Indiana-University-Purdue-University-Indianapolis (IUPUI), Indianapolis, Indiana, USA.
Branicki W Branicki Wojciech W Central Forensic Laboratory of the Police, Warsaw, Poland.
Wang S Wang Sijia S State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Ruiz-Linares A Ruiz-Linares Andrés A Laboratory of Biocultural Anthropology, Law, Ethics, and Health (Centre National de la Recherche Scientifique and Etablissement Français du Sang), Aix-Marseille Université, Marseille, France.
Spector TD Spector Timothy D TD Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Martin NG Martin Nicholas G NG Queensland Institute of Medical Research, Brisbane, Australia.
Medland SE Medland Sarah E SE Queensland Institute of Medical Research, Brisbane, Australia.
Kayser M Kayser Manfred M Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Human molecular genetics
ISOABBREVIATION: Hum. Mol. Genet.
YEAR: 2017
MONTH: Dec
DAY: 06
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2083
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Mol Genet
COUNTRY: England
ISSNLINKING: 0964-6906
NLMUNIQUEID: 9208958
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
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