Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci 英文参考文献.docVIP

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2017-05-11 发布于上海
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Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci 英文参考文献.doc

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Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci 英文参考文献

DigitalQuantificationofHumanEyeColorHighlights GeneticAssociationofThreeNewLoci FanLiu1,AndreasWollstein1,2,PirroG.Hysi3,GeorginaA.Ankra-Badu3,TimothyD.Spector3 ,Daniel Park4,GuZhu4,MatsLarsson4,DavidL.Duffy4,GrantW.Montgomery4,DavidA.Mackey5 ,Susan Walsh1,OscarLao1,AlbertHofman6,FernandoRivadeneira6,7,JohannesR.Vingerling6,8,Andre′ G. Uitterlinden6,7,NicholasG.Martin4,ChristopherJ.Hammond3,ManfredKayser1* 1Department of Forensic Molecular Biology, Erasmus University Medical Center, Rotterdam, The Netherlands, 2Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, 3Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom, 4Queensland Institute of MedicalResearch,Brisbane,Australia,5CentreforOphthalmologyandVisualScience,LionsEyeInstitute,UniversityofWesternAustralia,Perth,Australia,6Departmentof Epidemiology,ErasmusUniversityMedicalCenter,Rotterdam,TheNetherlands,7DepartmentofInternalMedicine,ErasmusUniversityMedicalCenter,Rotterdam,The Netherlands,8DepartmentofOphthalmology,ErasmusUniversityMedicalCenter,Rotterdam,TheNetherlands Abstract Previousstudieshavesuccessfullyidentifiedgeneticvariantsinseveralgenesassociatedwithhumaniris(eye)color;however, they all used simplified categorical trait information. Here, we quantified continuous eye color variation into hue and saturationvaluesusinghigh-resolutiondigitalfull-eyephotographsandconductedagenome-wideassociationstudyon5,951 DutchEuropeansfromtheRotterdamStudy.Threenewregions,1q42.3,17q25.3,and21q22.13,werehighlightedmeetingthe criterionforgenome-widestatisticallysignificantassociation.Thelattertwolociwerereplicatedin2,261individualsfromthe UK andin 1,282 from Australia. TheLYSTgene at 1q42.3and the DSCR9gene at 21q22.13 serve as promising functional candidates.Amodelforpredictingquantitativeeyecolorsexplainedover50%oftraitvarianceintheRotterdamStudy.Overall ourdataexemplifythatfinephenotypingisausefulstrategyforfindinggenesinvolvedinhumancomplex