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
33692100
TITLE
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
ABSTRACT
Human eye color is highly heritable, but its genetic architecture is not yet fully understood. We report the results of the largest genome-wide association study for eye color to date, involving up to 192,986 European participants from 10 populations. We identify 124 independent associations arising from 61 discrete genomic regions, including 50 previously unidentified. We find evidence for genes involved in melanin pigmentation, but we also find associations with genes involved in iris morphology and structure. Further analyses in 1636 Asian participants from two populations suggest that iris pigmentation variation in Asians is genetically similar to Europeans, albeit with smaller effect sizes. Our findings collectively explain 53.2% (95% confidence interval, 45.4 to 61.0%) of eye color variation using common single-nucleotide polymorphisms. Overall, our study outcomes demonstrate that the genetic complexity of human eye color considerably exceeds previous knowledge and expectations, highlighting eye color as a genetically highly complex human trait.
Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).
DATE PUBLISHED
2021 Mar
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2020/06/04
accepted 2021/01/25
entrez 2021/03/11 06:04
pubmed 2021/03/12 06:00
medline 2021/03/12 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Simcoe M Simcoe Mark M Department of Ophthalmology, King's College London, London, UK.
Valdes A Valdes Ana A Division of Rheumatology, Orthopaedics and Dermatology, School of Medicine, University of Nottingham, Nottingham, UK.
Liu F Liu Fan F University of Chinese Academy of Sciences, Beijing, China.
Furlotte NA Furlotte Nicholas A NA 23andMe Inc., Sunnyvale, CA, USA.
Evans DM Evans David M DM MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Hemani G Hemani Gibran G Population Health Sciences Bristol Medical School University of Bristol, Bristol, UK.
Ring SM Ring Susan M SM Population Health Sciences Bristol Medical School University of Bristol, Bristol, UK.
Smith GD Smith George Davey GD Population Health Sciences Bristol Medical School University of Bristol, Bristol, UK.
Duffy DL Duffy David L DL QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Zhu G Zhu Gu G QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Gordon SD Gordon Scott D SD QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Medland SE Medland Sarah E SE QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Vuckovic D Vuckovic Dragana D Epidemiology and Biostatistics Department, Faculty of Medicine, School of Public Health, Imperial College London, London, UK.
Girotto G Girotto Giorgia G Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Sala C Sala Cinzia C Division of Genetics of Common Disorders, S. Raffaele Scientific Institute, Milan, Italy.
Catamo E Catamo Eulalia E Department of Medical 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 Medical 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 of Common Disorders, S. Raffaele Scientific Institute, Milan, 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 Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.
Hewitt A Hewitt Alex A School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.
Wu W Wu Wenting W Department of Epidemiology, Fairbanks School of Public Health, Indiana University, and Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA.
Kraft P Kraft Peter P Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
Hammond CJ Hammond Christopher J CJ Department of Ophthalmology, King's College London, London, UK.
Shi Y Shi Yuan Y Singapore Eye Research Institute, Singapore National Eye Center, Singapore.
Chen Y Chen Yan Y University of Chinese Academy of Sciences, Beijing, China.
Zeng C Zeng Changqing C Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
Klaver CCW Klaver Caroline C W CCW Department of Ophthalmology, Radboud University Medical Center, Nijmegen, Netherlands.
Uitterlinden AG Uitterlinden Andre G AG Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Ikram MA Ikram M Arfan MA Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Hamer MA Hamer Merel A MA Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
van Duijn CM van Duijn Cornelia M CM Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Nijsten T Nijsten Tamar T Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Han J Han Jiali J Department of Epidemiology, Fairbanks School of Public Health, Indiana University, and Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA.
Mackey DA Mackey David A DA Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Cheng CY Cheng Ching-Yu CY Duke-NUS Medical School, Singapore.
23andMe Research Team
International Visible Trait Genetics Consortium
Hinds DA Hinds David A DA 23andMe Inc., Sunnyvale, CA, USA.
Spector TD Spector Timothy D TD Department of Twins Research and Genetic Epidemiology, King's College London, London, UK.
Kayser M Kayser Manfred M Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands. pirro.hysi@kcl.ac.uk.
Hysi PG Hysi Pirro G PG Department of Ophthalmology, King's College London, London, UK.
INVESTIGATORS
JOURNAL
VOLUME: 7
ISSUE: 11
TITLE: Science advances
ISOABBREVIATION: Sci Adv
YEAR: 2021
MONTH: Mar
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2375-2548
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Sci Adv
COUNTRY: United States
ISSNLINKING: 2375-2548
NLMUNIQUEID: 101653440
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01 AA007535 NIAAA NIH HHS United States
R01 AA014041 NIAAA NIH HHS United States
R01 MH066206 NIMH NIH HHS United States
R01 AA013326 NIAAA NIH HHS United States
R01 AA013321 NIAAA NIH HHS United States
MC_PC_15018 Medical Research Council United Kingdom
UM1 CA167552 NCI NIH HHS United States
Wellcome Trust United Kingdom
G9815508 Medical Research Council United Kingdom
R01 AA013320 NIAAA NIH HHS United States
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