ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis.docVIP

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ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis.doc

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ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis

Wangetal.ArthritisResearchTherapy2012,14:R125 /content/14/3/R125 RESEARCH ARTICLE OpenAccess ERAP1geneticvariationsassociatedwithHLA-B27 interactionanddiseaseseverityof syndesmophytesformationinTaiwanese ankylosingspondylitis Chin-ManWang1,Huei-HuangHo2,Su-WeiChang3,Yeong-JianJanWu2,Jing-ChiLin2,Pi-YuehChang4, JianmingWu5andJi-YihChen2* Abstract Introduction:Ankylosingspondylitis(AS)isafamilial,heritablediseasespecifiedbysyndesmophyteformation leadingtoanankylosedspine.Endoplasmicreticulumaminopeptidase1(ERAP1)geneticvariationshavebeen widelyprovedtobeassociatedwithASinseveralethnicpopulations.Theaimofthisstudywastoinvestigate whetherERAP1singlenucleotidepolymorphisms(SNPs)areassociatedwithASsusceptibilityanddiseaseseverity inTaiwanese. Methods:FourERAP1SNPs(rs27037,rs27980,rs27044andrs30187)weregenotypedin797TaiwaneseASpatients and1,150healthycontrols.DistributionsofgenotypeandalleleswerecomparedbetweenASpatientsandhealthy controls,andamongASpatientsstratifiedbyclinicalparameters. Results:TheSNPrs27037TalleleappearedtobeariskfactorforASsusceptibility(P=5.5×10-5,OR1.30,95%CI: 1.15to1.48;GT+TTvs.GGP=9.3×10-5,OR1.49,95%CI:1.22to1.82).Inaddition,thecodingSNP(cSNP) rs27044Gallele(P=1.5×10-4,OR1.28,95%CI:1.13to1.46;CG+GGvs.CC,P=1.7×10-3,OR1.44,95%CI:1.15to 1.81)andthecSNPrs30187Tallele(P=1.7×10-3,OR1.23,95%CI:1.08to1.40;CT+TTvs.CCP=6.1×10-3 ,OR 1.38,95%CI:1.10to1.74)werepredisposingfactorsforAS.Notably,thers27044Gallelecarriers(CG+GGvs.CC,P= 0.015,OR1.59,95%CI:1.33to2.30)andrs30187Tallelecarriers(CT+TTvs.CC,P=0.011,OR1.63,95%CI:1.12to 2.38)weresusceptibletosyndesmophyteformationinASpatients.Furthermore,twocSNPs(rs27044andrs30187) stronglyassociatedwithHLA-B27positivityinASpatients.Finally,theERAP1SNPhaplotypeTCG(rs27037T/ rs27980C/rs27044G)isamajorriskfactorforAS(adjustedP0.00001,OR1.38,95%CI:1.12to1.58)inTaiwanese. Conclusions:ThisstudyprovidesthefirstevidenceofERAP1SNPsinvolvingsyndesmophyteformation.The interactionsbetweenERAP1SNPsandHLA-B27playcriticalrolesinpMHCI