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Genetics, autoantibodies and clinical features in understanding and predicting rheumatoid arthritis

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Genetics, autoantibodies and clinical features in understanding and

predicting rheumatoid arthritis

Helm-van Mil, A.H.M. van der

Citation

Helm-van Mil, A. H. M. van der. (2006, October 26). Genetics, autoantibodies and clinical

features in understanding and predicting rheumatoid arthritis. Retrieved from

https://hdl.handle.net/1887/4929

Version:

Corrected Publisher’s Version

License:

Licence agreement concerning inclusion of doctoral thesis in the

Institutional Repository of the University of Leiden

Downloaded from:

https://hdl.handle.net/1887/4929

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!¬MISSENSE¬3.0¬RS ¬#4 ¬IN¬040. ¬WHICH¬ENCODES¬A¬TYROSINE¬PHOSPHATASE ¬ HAS¬ BEEN¬ ASSOCIATED¬ WITH¬ MULTIPLE¬ AUTOIMMUNE¬ DISEASES¬ INCLUDING¬ 2!¬   ¬ 4HIS¬ 3.0¬ RESULTS¬IN¬THE¬SUBSTITUTION¬OF¬A¬CONSERVED¬ARGININE¬WITH¬TRYPTOPHAN¬AT¬CODON¬¬27 IN¬THE¬PROTEINS¬3(  BINDING¬DOMAIN¬4HE¬4¬RISK¬ALLELE ¬WHICH¬RESULTS¬IN¬DISRUPTION¬ OF¬THE¬INTERACTION¬BETWEEN¬040.¬AND¬THE¬# 3RC¬KINASE ¬#SK ¬ ¬POTENTIALLY¬ALTERS¬THESE PROTEINS¬FUNCTION¬AS¬NEGATIVE¬REGULATORS¬OF¬4 CELL¬ACTIVATION¬)N¬THIS¬STUDY ¬WE¬INVESTGATE¬ THE¬ASSOCIATION¬OF¬THE 040. #4¬3.0¬WITH¬2! ¬UNDIFFERENTIATED¬ARTHRITIS¬5! ¬AND BOTH¬QUANTITATIVE¬RATE¬OF¬JOINT¬DESTRUCTION ¬AND¬QUALITATIVE¬AUTOANTIBODY¬STATUS¬AND¬RE MISSION¬OR¬PROGRESSION ¬2!¬CHARACTERISTICS !LL¬2!¬CASES¬N ¬WERE¬PARTICIPANTS¬IN¬THE¬,EIDEN¬%ARLY¬!RTHRITIS¬#LINIC¬%!# ¬A¬POPU LATION BASED INCEPTION¬ COHORT¬ OF¬ RECENT¬ ONSET¬ ARTHRITIS¬ DESCRIBED¬ BY¬ VAN¬ !KEN¬ ET¬ AL¬  AND¬FULl¬LLED¬!#2¬CRITERIA¬FOR¬2!¬AT¬ONE¬YEAR¬FOLLOW UP¬%!#¬PARTICIPANTS¬WHO¬COULD¬NOT BE¬PROPERLY¬CLASSIl¬ED¬AT¬ONE¬YEAR¬N ¬WERE¬CATEGORIZED¬AS¬5!¬CASES¬!LL¬PATIENTS¬AND¬ UNRELATED¬CONTROL¬INDIVIDUALS¬DESCRIBED¬IN¬REFERENCE¬ ¬WERE¬$UTCH¬WHITES¬!PPROPRIATE¬ INSTITUTIONAL¬REVIEW¬BOARDS¬APPROVED¬THE¬PROTOCOL

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2%&%2%.#%3

¬ ¬ "EGOVICH¬!" ¬#ARLTON¬6%( ¬(ONIGBERG¬,! ¬3CHRODI¬3* ¬#HOKKALINGAM¬!0 ¬!LEXANDER¬(# ET¬ AL¬ !¬ -ISSENSE¬ SINGLE NUCLEOTIDE¬ POLYMORPHISM¬ IN¬ A¬ GENE¬ ENCODING¬ A¬ PROTEIN¬ TRYO SINE¬ PHOSPHATASE¬ 040. ¬ IS¬ ASSOCIATED¬ WITH¬ RHEUMATOID¬ ARTHRITIS¬ !M¬ *¬ (UM¬ 'ENET   ¬ ¬¬ 'REGERSEN¬0¬0ATHWAYS¬TO¬GENE¬IDENTIl¬CATION¬IN¬RHEUMATOID¬ARTHRITIS¬040.¬AND¬BE YOND¬)MMUNOL¬2EV¬¬  ¬ ¬¬ "OTTINI¬. ¬-USUMECI¬, ¬!LONSO¬! ¬2AHMOUNI¬3 ¬.IKA¬+ ¬2OSTAMKHANI¬- ¬ET¬AL¬!¬FUNC TIONAL¬VARIANT¬OF¬LYMPHOID¬TYROSINE¬PHOSPHATASE¬IS¬ASSOCIATED¬WITH¬TYPE¬)¬DIABETES¬.AT 'ENET¬  

¬ ¬¬ VAN¬ !KEN¬ * ¬ VAN¬ "ILSEN¬ *( ¬ !LLAART¬ #& ¬ (UIZINGA¬ 47 ¬ "REEDVELD¬ &#¬ 4HE¬ ,EIDEN¬ %ARLY !RTHRITIS¬#LINIC¬#LIN%XP2HEUMATOL¬3  ¬ ¬ VAN¬DER¬-EER¬&* ¬+OSTER¬4 ¬6ANDENBROUCKE¬*0 ¬"RIET¬% ¬2OSENDAAL¬&2¬4HE¬,EIDEN¬4HROM BOPHILIA¬3TUDY¬,%43 ¬4HROMB¬(AEMOST¬  ¬ ¬ 6ERDUYN¬7 ¬$OXIADIS¬)) ¬!NHOLTS¬* ¬$RABBELS¬** ¬.AIPAL¬! ¬$!MARO¬*¬ET¬AL¬"IOTINYLATED¬ $2"¬SEQUENCE SPECIl¬C¬OLIGONUCLEOTIDES¬#OMPARISON¬TO¬SEROLOGIC¬(,! $2¬TYPING¬OF¬OR GAN¬DONORS¬IN¬EUROTRANSPLANT¬(UM¬)MMUNOL¬¬-AY¬ ¬ 

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