Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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
29662168
TITLE
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
ABSTRACT
Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.
DATE PUBLISHED
2018 05
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2016/12/17
accepted 2018/03/07
pubmed 2018/04/18 06:00
medline 2019/04/25 06:00
entrez 2018/04/18 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Hysi PG Hysi Pirro G PG Department of Ophthalmology, King's College London, London, UK.
Valdes AM Valdes Ana M AM Nottingham NIHR Biomedical Research Centre, Nottingham, United Kingdom.
Liu F Liu Fan F Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Furlotte NA Furlotte Nicholas A NA 23andMe, Inc., Mountain View, CA, USA.
Evans DM Evans David M DM MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Bataille V Bataille Veronique V King's College London Department of Twins Research and Genetic Epidemiology, London, UK.
Visconti A Visconti Alessia A King's College London Department of Twins Research and Genetic Epidemiology, London, UK.
Hemani G Hemani Gibran G MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
McMahon G McMahon George G MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Ring SM Ring Susan M SM MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Smith GD Smith George Davey GD MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Duffy DL Duffy David L DL QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Zhu G Zhu Gu G QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Gordon SD Gordon Scott D SD QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Medland SE Medland Sarah E SE QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Lin BD Lin Bochao D BD Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
Willemsen G Willemsen Gonneke G Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
Jan Hottenga J Jan Hottenga Jouke J Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
Vuckovic D Vuckovic Dragana D Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Girotto G Girotto Giorgia G Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Gandin I Gandin Ilaria I Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Sala C Sala Cinzia C Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Concas MP Concas Maria Pina MP Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Brumat M Brumat Marco M Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Gasparini P Gasparini Paolo P Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Toniolo D Toniolo Daniela D Division of Genetics and Cell Biology, San Faffaele Research Institute, Milano, Italy.
Cocca M Cocca Massimiliano M Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Robino A Robino Antonietta A Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Yazar S Yazar Seyhan S MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, UK.
Hewitt AW Hewitt Alex W AW School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.
Chen Y Chen Yan Y University of Chinese Academy of Sciences, Beijing, PR China.
Zeng C Zeng Changqing C CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, PR China.
Uitterlinden AG Uitterlinden Andre 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.
Hamer MA Hamer Merel A MA Department of Dermatology, 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.
Mackey DA Mackey David A DA School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.
Falchi M Falchi Mario M King's College London Department of Twins Research and Genetic Epidemiology, London, UK.
Boomsma DI Boomsma Dorret I DI Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Australia.
International Visible Trait Genetics Consortium
Hinds DA Hinds David A DA 23andMe, Inc., Mountain View, CA, USA.
Kayser M Kayser Manfred M Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. m.kayser@erasmusmc.nl.
Spector TD Spector Timothy D TD King's College London Department of Twins Research and Genetic Epidemiology, London, UK. tim.spector@kcl.ac.uk.
INVESTIGATORS
JOURNAL
VOLUME: 50
ISSUE: 5
TITLE: Nature genetics
ISOABBREVIATION: Nat Genet
YEAR: 2018
MONTH: 05
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
ErratumIn Nat Genet. 2019 Jul;51(7):1190 31150021
GRANTS
GRANTID AGENCY COUNTRY
RC2 MH089951 NIMH NIH HHS United States
105022 Wellcome Trust United Kingdom
072856 Wellcome Trust United Kingdom
R01 AA007535 NIAAA NIH HHS United States
R01 AA014041 NIAAA NIH HHS United States
R01 MH081802 NIMH NIH HHS United States
R01 MH066206 NIMH NIH HHS United States
RC2 MH089995 NIMH NIH HHS United States
202786 Wellcome Trust United Kingdom
R01 HD042157 NICHD NIH HHS United States
R01 AA013326 NIAAA NIH HHS United States
R01 AA013321 NIAAA NIH HHS United States
230374 European Research Council International
079771 Wellcome Trust United Kingdom
MC_UU_12013/4 Medical Research Council United Kingdom
U24 MH068457 NIMH NIH HHS United States
Wellcome Trust United Kingdom
099194 Wellcome Trust United Kingdom
R01 AA013320 NIAAA NIH HHS United States
091855 Wellcome Trust United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Aged
Chromosomes, Human, X
European Continental Ancestry Group genetics
Female genetics
Genetic Loci genetics
Genome-Wide Association Study methods
Hair Color genetics
Humans genetics
Male genetics
Middle Aged genetics
Multifactorial Inheritance genetics
Phenotype genetics
Polymorphism, Single Nucleotide genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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