多组学方法解析深静脉血栓形成的遗传背景

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【Abstract】ObjectiveToexplorepotentialsusceptiblitygensandtherapeutictargetsfordepvenous thrombosis（DVT）througha multi-omicsintegrationrategyrovidingagneticbasisfortheprecisepreventionandtreatmentofetodsUiliingteay statisticsfromgenome-wideasociationstudydataofDVfromtheUKBbank，thisstudyemployedmethodssuchastranscitome-wide associatiostudy（TWAS），ausalgnesetfine-mappingandfunctionalannotationtoinvestigatethsusceptibilitygnesandpotetial therapeutictargetsofDVTResultsTheQQplotindicatednosstematicbiasintheDVTdatawithsignificantoverrepresetationof true ssociatiosialsigsifaeegios，osistetieolnicureofalysisdntifdintel involving pathwayselatedtocoagulation（FGG）metabolism（SLC19A2）vascularremodeling（MP24）andsignal transductioPG1， TSPAN15，etc.）.Fine mappingselected14highconfidencecandidatecausalgenes（posteriorprobability>.6），amongwhich MMP24， PLRG1，SLC19A2，RPC4APandPAN15werejintlyidentiedbyTWASndcolocalization.Functioalmappingadaotationoed thatrisksinglenucleotidepolymorpsmswreprimarilylcatedintros，choring55gens（includingthe5keygensmentiodabove）， enrichedintheliverbloodelsndthoaglation-finolysisalancepathay.ConclusionDisomplexdiseasecausedbyte synergiticeffectof multiplegenes.Susceptibitygenessuchas MMP24，PLRG1，SLC19A2，TRPC4APandTSPAN15mayserveas therapeutic targets for DVT.

【Keywords】Deepvenous thrombosis;Genome-wideassociation study;Transcriptome-wide association study;Genetics

深静脉血栓形成（deepvenousthrombosis，DVT）作为静脉血栓的主要类型，全球年发病率约100/10万，且呈持续上升趋势[1]。（剩余10512字）