系统性红斑狼疮和肺动脉高压的遗传关联

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Genetic Associations Between Systemic Lupus Erythematosus and Pulmonary Arterial Hypertension

DENGQi1，WANGHan1，WANG Yinli1，TANG Jianhui²，QINDimao1

（1.Departmentof Cardiology，The Third People's HospitalofChengdu，Chengdu 610031，Sichuan，China；2.Dpartment ofCardiology，Afliated Huaizhou Hospitalof TheThird People’s Hospital ofChengdu，Chengdu 61040o，Sichuan， China）

【Abstract】ObjectiveEpidemiological studies havefoundacloseasociation betwen systemic lupuserythematosus （SLE）and pulmonaryartealhpertesio（P）.Theiftissudyastoxploreteneticoelatio，aredgeticuctuedtetial mechanisms between SLEandPAH.MethodsBasedonthesummarydataof large-scalegenome-wideasociationstudy（GWAS），we evaluatedthegeneticorelatioetweenSLEandPAHandcoductedrosstraitanalysisummar-data-bsedMenelianrndoation （SMR）analysisasudtoalyepotetialdrugtargets，ndfuctioalaotationdisuspeifcaalysiseusedassuppla methodsoexplorethepotentialasociationbetweenthetwo.ResultsThestudyfoudasignificantlocalgeneticcoelationof3Oloci between SLE and PAH.A total of 113 possible single-nucleotide polymorphism （SNP） loci（P<5×10-8 ）related to both SLE and PAH were identified.Basedouctioalapadotato（U）tol14issoatedwitothEndAereientdrt SMRanalysisrevealed27overlapigpotentialdruggablegenesbetweenthetwoBasednteanalysisofstraifiedlinkagediseulu scoreregressonedndFUtoolieilydiinoleodndliversusileesodt enrichmentinoleblood，raintissue，blastsndsplenoncusinOursudymostratedeeneticsociatioded structure between SLE and PAH and preliminarily revealed the potential regulatory mechanisms.

【Keywords】Systeiclupuserythematosus；Pulmonaryarterialhypertension；Linkagedisequilibrum；Geneticcoelation；Functiona annotation；Cross-trait analysis

系统性红斑狼疮（systemic lupus erythematosus，SLE）是一种复杂的自身免疫性疾病，其发病涉及遗传、环境和免疫等多方面因素[]。（剩余10578字）