Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计

Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计

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Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计_第1页
Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计_第2页
Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计_第3页
Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计_第4页
Rationale and Design of the Genomic Research in Alpha-1 AntitryDeficiency and Sarcoidosis Studypsinα-1抗胰蛋白酶缺乏症和Sarcoidosis Study基因组研究的原理与设计_第5页
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1、CLINICALSTUDYDESIGNRationaleandDesignoftheGenomicResearchinAlpha-1AntitrypsinDeficiencyandSarcoidosisStudyAlpha-1Protocol123434CharlieStrange,RobertM.Senior,FrankSciurba,ScottO’Neal,AlisonMorris,StephenR.Wisniewski,5663,437RussellBowler,HarryS.Hochheiser,MichaelJ.Becich,YingzeZhang,JosephK.Lead

2、er,BarbaraA.Meth´e,85NaftaliKaminski,andRobertA.Sandhaus;fortheGRADSAlpha-1StudyGroup*1DivisionofPulmonary,CriticalCare,AllergyandSleepMedicine,MedicalUniversityofSouthCarolina,Charleston,SouthCarolina;234Barnes-JewishHospital/WashingtonUniversity,St.Louis,Missouri;SchoolofMedicine,GraduateSch

3、oolofPublicHealth,and65DepartmentofBiomedicalInformatics,UniversityofPittsburgh,Pittsburgh,Pennsylvania;NationalJewishHealth,Denver,Colorado;78J.CraigVenterInstitute,Rockville,Maryland;andSectionofPulmonary,CriticalCare,andSleepMedicine,DepartmentofInternalMedicine,YaleSchoolofMedicine,NewHave

4、n,ConnecticutORCIDID:0000-0002-8109-8067(C.S.).AbstractFEV1andagewillbecompared.Intheprimaryanalysis,wewilldetermineifthePiZZindividualsonaugmentationtherapyhaveSeveredeficiencyofalpha-1antitrypsinhasahighlyvariableclinicaladifferenceinlowerrespiratorytractmicrobesidentifiedpresentation.TheGenom

5、icResearchinAlpha-1AntitrypsincomparedwithmatchedPiZZindividualswhoarenotonDeficiencyandSarcoidosisa1Studyisaprospective,multicenter,augmentationtherapy.Bycharacterizingthemicrobiomeinalpha-1cross-sectionalstudyofadultsolderthanage35yearswithPiZZorantitrypsindeficiency(AATD),wehopetodefinenewphen

6、otypesPiMZalpha-1antitrypsingenotypes.ItisdesignedtobetterofCOPDthatexplainsomeofthediversityofclinicalpresentations.understandifmicrobialfactorsinfluencethisheterogeneity.ClinicalAsauniquegeneticcauseofCOPD,AATDmayinformtypicalsymptoms,pulmonaryfunctiontesting,computedchestCOPDpathogenesis,and

7、betterunderstandingofitmaytomography,exercisecapacity,andbronchoalveolarlavage(BAL)illuminatethecomplexinterplaybetweenenvironmentwillbeusedtodefinechronicobstructivepulmonarydisease(COPD)andgenetics.Althoughthebiologicapproachesarehypot

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