A Replication Study of the Association between Rheumatoid Arthritis and Deletion of the Late Cornified Envelope Genes LCE3B and LCE3C 英文参考文献.docVIP
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A Replication Study of the Association between Rheumatoid Arthritis and Deletion of the Late Cornified Envelope Genes LCE3B and LCE3C 英文参考文献
AReplicationStudyoftheAssociationbetween
RheumatoidArthritisandDeletionoftheLateCornified
EnvelopeGenesLCE3BandLCE3C
JudithG.M.Bergboer1,Masˇa Umic′evic′-Mirkov2,JaapFransen3,MartindenHeijer4,BarbaraFranke2,
PietL.C.M.vanRiel3,JoostSchalkwijk1,MariekeJ.H.Coenen2*,onbehalfoftheNijmegenBiomedical
Studyprincipalinvestigators
1DepartmentofDermatology,RadboudUniversityNijmegenMedicalCentre,NijmegenCentreforMolecularLifeSciences,Nijmegen,TheNetherlands,2Departmentof
Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 3Department of Rheumatology, Radboud University Nijmegen Medical
Centre,Nijmegen,TheNetherlands,4DepartmentofEndocrinologyandDepartmentofEpidemiologyandBiostatistics,RadboudUniversityNijmegenMedicalCentre,
Nijmegen,TheNetherlands
Abstract
Objective:Tworecentstudies,inaSpanishandaChinesepopulation,pointtoanassociationbetweenrheumatoidarthritis
(RA)riskandthedeletionoftheLateCornifiedEnvelope(LCE)3Band3Cgenes(LCE3C_LCE3B-del),aknownriskfactorfor
psoriasis.WeaimedtoreplicatethesestudiesinalargeDutchcohort.
Methods:1039RAcasesand759controlsweregenotypedforLCE3C_LCE3B-del.Associationanalysiswasperformedforthe
completecohortandafterstratificationfortheserologicmarkersanti-cycliccitrullinatedpeptideandrheumatoidfactor.A
meta-analysiswasperformedcombiningourdatawiththeSpanishandChinesedatasets,resultinginananalysisincluding
2466RAcasesand2438controls.
Results: In the Dutch cohort we did not observe a significant association of LCE3C_LCE3B-del (p=0.093) with RA risk. A
stratifiedanalysisfortheserologicpositiveandnegativegroupdidnotshowanassociationbetweenthegeneticvariant
and disease risk, either. The meta-analysis, however, confirmed a significant association (p,0.0001, OR=1.31, 95%
confidenceinterval1.16–1.47).
Conclusion:Ourmeta-analysisconfirmstheassociationoftheLCE3deletionwithRA,suggestingthatLCE3C_LCE3B-delisa
commonriskfactorfor(auto)immunediseases.
Citation:BergboerJGM,Umic′evic′-MirkovM,FransenJ,denHeijerM,FrankeB,etal.(2
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