PMID- 19210888
OWN - NLM
STAT- MEDLINE
DCOM- 20090406
LR  - 20170112
IS  - 0392-856X (Print)
IS  - 0392-856X (Linking)
VI  - 26
IP  - 6
DP  - 2008 Nov-Dec
TI  - Role of HLA-DRB1 and PTPN22 genes in susceptibility to juvenile idiopathic 
      arthritis in Hungarian patients.
PG  - 1146-52
AB  - OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a complex immune-mediated 
      disease characterized by environmental influences along with several predisposing 
      genes in the pathogenesis. The present study was undertaken to investigate the 
      association of polymorphisms in two candidate genes for autoimmunity, human 
      leukocyte antigen (HLA) DRB1 and protein tyrosine phosphatase N22 (PTPN22) with 
      JIA in Hungarian patients. METHODS: A case-control study including 150 Hungarian 
      JIA patients and 200 sex and ethnically matched healthy controls was conducted. 
      Genotyping for HLA-DRB1 and PTPN22 C1858T single nucleotide polymorphism (SNP) 
      (rs2476601) was carried out by group-specific PCR amplification and by real-time 
      PCR allelic discrimination, respectively. RESULTS: In Hungarian patients JIA was 
      associated with HLA-DRB1*01, DRB1*08, DRB1*13 (p=0.048, p=0.002, p=0.019, 
      respectively) with marked differences between the disease subtypes classified 
      according to the ILAR criteria. There was no association of the PTPN22 C1858T SNP 
      with JIA (p=0.66). No correlation was found between the presence of this PTPN22 
      SNP and HLA-DRB1 alleles. CONCLUSIONS: Our results confirm that certain HLA-DRB1 
      alleles reported previously as susceptibility factors are strongly associated 
      with JIA in a Hungarian population. However, C1858T polymorphism of PTPN22, 
      another candidate gene of autoimmunity seems to be independent of JIA in 
      Hungarian patients. Our data taken together with various findings in different 
      populations suggest that associations related to PTPN22 seem to be more 
      ethnicity-specific in contrast to the general and less population-dependent role 
      of HLA-DRB1 in JIA.
FAU - Pazar, B
AU  - Pazar B
AD  - National Institute of Rheumatology and Physiotherapy, Budapest, Hungary.
FAU - Gergely, P Jr
AU  - Gergely P Jr
FAU - Nagy, Z B
AU  - Nagy ZB
FAU - Gombos, T
AU  - Gombos T
FAU - Pozsonyi, E
AU  - Pozsonyi E
FAU - Rajczy, K
AU  - Rajczy K
FAU - Balogh, Z
AU  - Balogh Z
FAU - Sevcic, K
AU  - Sevcic K
FAU - Orban, I
AU  - Orban I
FAU - Szodoray, P
AU  - Szodoray P
FAU - Poor, G
AU  - Poor G
LA  - eng
PT  - Journal Article
PL  - Italy
TA  - Clin Exp Rheumatol
JT  - Clinical and experimental rheumatology
JID - 8308521
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - EC 3.1.3.48 (PTPN22 protein, human)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 22)
SB  - IM
MH  - Adolescent
MH  - Arthritis, Juvenile/*ethnology/*genetics
MH  - Case-Control Studies
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease/ethnology
MH  - Genotype
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Humans
MH  - Hungary/epidemiology
MH  - Infant
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Protein Tyrosine Phosphatase, Non-Receptor Type 22/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2009/02/13 09:00
MHDA- 2009/04/07 09:00
CRDT- 2009/02/13 09:00
PHST- 2009/02/13 09:00 [entrez]
PHST- 2009/02/13 09:00 [pubmed]
PHST- 2009/04/07 09:00 [medline]
AID - 2541 [pii]
PST - ppublish
SO  - Clin Exp Rheumatol. 2008 Nov-Dec;26(6):1146-52.