A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation 英文参考文献.docVIP

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A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation 英文参考文献.doc

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A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation 英文参考文献

AGenome-WideAssociationStudyIdentifiesNovel AllelesAssociatedwithHairColorandSkinPigmentation JialiHan1,2,PeterKraft2,3,HongmeiNan1,2,3,QunGuo1,2,ConstanceChen4,5,AbrarQureshi1,SusanE. Hankinson1,FrankB.Hu1,3,6,DavidL.Duffy7,ZhenZhenZhao7,NicholasG.Martin7,GrantW. Montgomery7,NicholasK.Hayward7,GillesThomas4,RobertN.Hoover4,StephenChanock4,DavidJ. Hunter1,2,3,4,6,8 * 1Channing Laboratory, Department of Medicine, Brigham and Women’s Hospital, and Harvard Medical School, Boston, Massachusetts, United States of America, 2ProgramofMolecularandGeneticEpidemiology,HarvardSchoolofPublicHealth,Boston,Massachusetts,UnitedStatesofAmerica, 3DepartmentofEpidemiology, HarvardSchoolofPublicHealth,Boston,Massachusetts,UnitedStatesofAmerica,4DivisionofCancerEpidemiologyandGenetics,NationalCancerInstitute,National InstitutesofHealth,DepartmentofHealthandHumanServices,Bethesda,Maryland,UnitedStatesofAmerica,5BioInformed,Gaithersburg,Maryland,UnitedStatesof America, 6Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, United States of America, 7Queensland Institute of Medical Research, Brisbane,Australia,8BroadInstituteofHarvardandMIT,Cambridge,Massachusetts,UnitedStatesofAmerica Abstract Weconductedamulti-stagegenome-wideassociationstudyofnaturalhaircolorinmorethan10,000menandwomenof European ancestry from the United States and Australia. An initial analysis of 528,173 single nucleotide polymorphisms (SNPs)genotypedon2,287womenidentifiedIRF4andSLC24A4aslocihighlyassociatedwithhaircolor,alongwiththree otherregionsencompassingknownpigmentationgenes.Weconfirmedtheseassociationsin7,028individualsfromthree additionalstudies.Acrossthesefourstudies,SLC24A4rndIRF4rhowedstrongassociationswithhair color, with p=6.0610262 and p=7.466102127, respectively. The IRF4 SNP was also associated with skin color (p=6.2610 ),eyecolor(p=6.1610213),andskintanningresponsetosunlight(p=3.9610289).Amultivariableanalysis poolingdatafromtheinitialGW