Evaluation of Parkinson Disease Risk Variants as Expression-QTLs 英文参考文献.docVIP

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Evaluation of Parkinson Disease Risk Variants as Expression-QTLs 英文参考文献.doc

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Evaluation of Parkinson Disease Risk Variants as Expression-QTLs 英文参考文献

EvaluationofParkinsonDiseaseRiskVariantsas Expression-QTLs JeanneC.Latourelle1*,AlexandraDumitriu1,2,TiffanyC.Hadzi1,ThomasG.Beach3,RichardH.Myers1,2 1DepartmentofNeurology,BostonUniversitySchoolofMedicine,Boston,Massachusetts,UnitedStatesofAmerica,2BioinformaticsProgram,BostonUniversityCollege ofArtsandSciences,Boston,Massachusetts,UnitedStatesofAmerica,3CivinLaboratoryforNeuropathology,BannerSunHealthResearchInstitute,SunCity,Arizona, UnitedStatesofAmerica Abstract The recent Parkinson Disease GWAS Consortium meta-analysis and replication study reports association at several previouslyconfirmedrisklociSNCA,MAPT,GAK/DGKQ,andHLAandidentifiedanovelrisklocusatRIT2.Tofurtherexplore functionalconsequencesoftheseassociations,weinvestigatedmodificationofgeneexpressioninprefrontalcortexbrain samples of pathologically confirmed PD cases (N=26) and controls (N=24) by 67 associated SNPs in these 5loci. AssociationbetweentheeSNPsandexpressionwasevaluatedusinga2-degreesoffreedomtestofbothassociationand differenceinassociationbetweencasesandcontrols,adjustedforrelevantcovariates.SNPsateachofthe5lociweretested forcis-actingeffectsonallprobeswithin250kbofeachlocus.Trans-effectsoftheSNPsonthe39,122probespassingallQC onthemicroarraywerealsoexamined.Fromtheanalysisofcis-actingSNPeffects,severalSNPsintheMAPTregionshow significantassociationtomultiplenearbyprobes,includingtwostronglycorrelatedprobestargetingthegeneLOC644246 andtheduplicatedgenesLRRC37AandLRRC37A2,andathirduncorrelatedprobetargetingthegeneDCAKD.Significantcis- associations were also observed between SNPs and two probes targeting genes in the HLA region on chromosome 6. Expanding the association study to examine trans effects revealed an additional 23 SNP-probe associations reaching statistical significance (p,2.861028) including SNPs from the SNCA, MAPT and RIT2 regions. These findings provide additionalcontextfortheinterpretationofPDassociatedSNPsidentifiedinrecentGWASaswellaspotentialinsightintothe mechanismsunderlyin