Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals Application to Hematological Traits 英文参考文献.docVIP

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Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals Application to Hematological Traits 英文参考文献.doc

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Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals Application to Hematological Traits 英文参考文献

MapsofOpenChromatinGuidetheFunctionalFollow- UpofGenome-WideAssociationSignals:Applicationto HematologicalTraits DirkS.Paul1*,JamesP.Nisbet1,Tsun-PoYang1,StuartMeacham1,2,3,AugustoRendon2,3,4 ,Katta Hautaviita1,JonnaTallila1,JacquiWhite1,MarloesR.Tijssen2,5,SutheshSivapalaratnam6 ,Hanneke Basart6,MiekeD.Trip6,CardiogenicsConsortium,MuTHERConsortium,BertholdGo¨ttgens2,5 ,Nicole Soranzo1,7,WillemH.Ouwehand1,2,3,PanosDeloukas1* 1WellcomeTrustSangerInstitute,Hinxton,UnitedKingdom,2DepartmentofHaematology,UniversityofCambridge,Cambridge,UnitedKingdom,3NationalHealth ServiceBloodandTransplant(NHSBT),Cambridge,UnitedKingdom,4BiostatisticsUnit,MedicalResearchCouncil,Cambridge,UnitedKingdom,5CambridgeInstitutefor Medical Research, University of Cambridge, Cambridge, United Kingdom, 6Department of Vascular Medicine, Academic Medical CentreAmsterdam,Amsterdam,The Netherlands,7DepartmentofTwinResearchandGeneticEpidemiology,King’sCollegeLondon,London,UnitedKingdom Abstract Turning genetic discoveries identified in genome-wide association (GWA) studies into biological mechanisms is an importantchallengeinhumangenetics.ManyGWAsignalsmapoutsideexons,suggestingthattheassociatedvariantsmay liewithinregulatoryregions.Weappliedtheformaldehyde-assistedisolationofregulatoryelements(FAIRE)methodina megakaryocytic and an erythroblastoid cell line to map active regulatory elements at known loci associated with hematological quantitative traits, coronary artery disease, and myocardial infarction. We showed that the two cell types exhibit distinct patterns of open chromatin and that cell-specific open chromatin can guide the finding of functional variants.Weidentifiedanopenchromatinregionatchromosome7q22.3inmegakaryocytesbutnoterythroblasts,which harborsthecommonnon-codingsequencevariantrs342293knowntobeassociatedwithplateletvolumeandfunction. Resequencingofthisopenchromatinregionin643individualsprovidedstrongevidencethatrs342293istheonlyputative causativevariantinthisregion.Wedemonstratedt