Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis 英文参考文献.docVIP

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Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis 英文参考文献.doc

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Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis 英文参考文献

GeneticVariationintheEpidermalTransglutaminase GenesIsNotAssociatedwithAtopicDermatitis AgneLiede′n1.,Ma?rtenC.G.Winge1,2*.,AnnikaSa¨a¨f1,IngridKockum3,ElisabethEkelund1, ElkeRodriguez4,ReginaFo¨lster-Holst4,AndreFranke5,ThomasIllig6,7,MariaTengvall-Linder8, Hansjo¨rgBaurecht4,StephanWeidinger4,Carl-FredrikWahlgren2,MagnusNordenskjo¨ld1, MariaBradley1,2 1Department ofMolecular MedicineandSurgery, Karolinska Institutet,Stockholm,Sweden,2DermatologyUnit,DepartmentofMedicineSolna,Karolinska University Hospital,Stockholm,Sweden,3DepartmentofClinicalNeurosciences,KarolinskaInstitutet,Stockholm,Sweden,4DepartmentofDermatology,UniversityofKiel,Kiel, Germany,5InstituteofClinicalMolecularBiology,Christian-Albrechts-Universita¨t zuKiel,Kiel,Germany,6ResearchUnitofMolecularEpidemiology,HelmholtzZentrum Mu¨nchen, German Research Center for Environmental Health, Neuherberg, Germany, 7Hannover Unified Biobank, Hannover Medical School, Hannover, Germany, 8ClinicalImmunologyandAllergy,DepartmentofMedicineSolna,KarolinskaInstitutet,Stockholm,Sweden Abstract Background:Atopicdermatitis(AD)isacommonchronicinflammatoryskindisorderwhereepidermalbarrierdysfunctionis amajorfactorinthepathogenesis.TheidentificationofADsusceptibilitygenesrelatedtobarrierdysfunctionisthereforeof importance. The epidermal transglutaminases (TGM1, TGM3 and TGM5) encodes essential cross-linking enzymes in the epidermis. Objective:TodeterminewhethergeneticvariabilityintheepidermaltransglutaminasescontributestoADsusceptibility. Methods:Forty-sevensinglenucleotidepolymorphisms(SNPs)intheTGM1,TGM3andTGM5generegionweretestedfor geneticassociationwithAD,independentlyandinrelationtoFLGgenotype,usingapedigreedisequilibriumtest(PDT)ina Swedishmaterialconsistingof1753individualsfrom539families.Inaddition,aGermancase-controlmaterial,consistingof 533ADcasesand1996controls,wasusedforinsilicoanalysisoftheepidermalTGMregions.GeneexpressionoftheTGM1, TGM3andTGM5genewasinvestigatedbyrelativequantificationwithRealTime