Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways 英文参考文献.docVIP

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Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways 英文参考文献.doc

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Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways 英文参考文献

RareCopyNumberVariationsinAdultswithTetralogyof FallotImplicateNovelRiskGenePathways CandiceK.Silversides1,2.,AnathC.Lionel3,4.,GregoryCostain5,DanieleMerico3,OhsukeMigita3, BenLiu5,TracyYuen5,JessicaRickaby3,BhoomaThiruvahindrapuram3,ChristianR.Marshall3,4, StephenW.Scherer3,4,AnneS.Bassett1,5,6 * 1TorontoCongenitalCardiacCentreforAdults,PeterMunkCardiacCentre,UniversityHealthNetwork,Toronto,Ontario,Canada,2DivisionofCardiology,MountSinai Hospital,Toronto,Ontario,Canada,3TheCentreforAppliedGenomicsandPrograminGeneticsandGenomeBiology,TheHospitalforSickChildren,Toronto,Ontario, Canada, 4Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Ontario, Canada, 5Clinical Genetics Research Program, Centre for AddictionandMentalHealth,Toronto,Ontario,Canada,6DepartmentofPsychiatry,UniversityofToronto,Ontario,Canada Abstract Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributingtohumandisease.TetralogyofFallot(TOF)isthemostcommonformofcyanoticcongenitalheartdisease,but todatelittleisknownabouttheroleofCNVsintheetiologyofTOF.Usinghigh-resolutiongenome-widemicroarraysand stringentcallingmethods,weinvestigatedrareCNVsinaprospectivelyrecruitedcohortof433unrelatedadultswithTOF and/or pulmonary atresia at a single centre. We excluded those with recognized syndromes, including 22q11.2 deletion syndrome.WeidentifiedcandidategenesforTOFbasedonconvergingevidencebetweenrareCNVsthatoverlappedthe samegeneinunrelatedindividualsandfrompathwayanalysescomparingrareCNVsinTOFcasestothoseinepidemiologic controls.Evenafterexcludingthe53(10.7%)subjectswith22q11.2deletions,wefoundthatadultswithTOFhadagreater burdenoflargeraregenicCNVscomparedtocontrols(8.82%vs.4.33%,p=0.0117).Sixlocishowedevidenceforrecurrence inTOForrelatedcongenitalheartdisease,includingtypical1q21.1duplicationsinfour(1.18%)of340Caucasianprobands. The rare CNVs implicated novel candidate genes of interest for TOF, including PL