Role of HLA-DRB1 and PTPN22 genes in susceptibility to juvenile idiopathic arthritis in Hungarian patients

Clinical and Experimental Rheumatology

Volumn 26, Issue 6, 2008, Pages 1146-1152

  Pazár, Borbála ^a   Gergely Jr , Péter ^a,b   Nagy, Zsolt B ^a,b   Gombos, Tímea ^a   Pozsonyi, Éva ^c   Rajczy, Katalin ^c   Balogh, Zsolt ^a   Sevcic, Krisztina ^a   Orbán, Ilona ^a   Szodoray, Péter ^d   Poór, Gyula ^a,b  

^a NATIONAL INSTITUTE OF RHEUMATOLOGY AND PHYSIOTHERAPY   (Hungary)

^b INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^c NATIONAL MEDICAL CENTER   (Hungary)

^d UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

HLA DRB1; Juvenile idiopathic arthritis; Polymorphism; PTPN22

Indexed keywords

HLA DR ANTIGEN; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE N22; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOIMMUNITY; CASE CONTROL STUDY; CHILD; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA POLYMORPHISM; ETHNICITY; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUNGARY; JUVENILE RHEUMATOID ARTHRITIS; MAJOR CLINICAL STUDY; MALE; PATIENT SELECTION; PRIORITY JOURNAL; PROTEIN FUNCTION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ARTHRITIS, JUVENILE RHEUMATOID; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HLA-DR ANTIGENS; HUMANS; HUNGARY; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 59149101024     PISSN: 0392856X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. MURRAY KJ, MOROLDO MB, DONNELLY P et al.: Age-specific effects of juvenile rheumatoid arthritis-associated HLA alleles. Arthritis Rheum 1999; 42: 1843-53.
2. MEAZZA C, TRAVAGLINO P, PIGNATTI P et al.: Macrophage migration inhibitory factor in patients with juvenile idiopathic arthritis. Arthritis Rheum 2002; 46: 232-7.
3. MITERSKI B, DRYNDA S, BOSCHOW G et al.: Complex genetic predisposition in adult and juvenile rheumatoid arthritis. BMC Genet 2004; 5: 2.
4. HINKS A, BARTON A, JOHN S et al.: Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene. Arthritis Rheum 2005; 52: 1694-9.
5. VIKEN MK, AMUNDSEN SS, KVIEN TK et al.: Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005; 6: 271-3.
6. CINEK O, HRADSKY O, AHMEDOV G et al.: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. Diabetes Res Clin Pract 2007; 76: 297-303.
7. HOWARD JF, SIGSBEE A, GLASS DN: HLA genetics and inherited predisposition to JRA. J Rheumatol 1985; 12: 7-12.
8. PRAHALAD S, RYAN MH, SHEAR ES, THOMPSON SD, GIANNINI EH, GLASS DN: Juvenile rheumatoid arthritis: Linkage to HLA demonstrated by allele sharing in affected sibpairs. Arthritis Rheum 2000; 43: 2335-8.
9. THOMPSON SD, MOROLDO MB, GUYER L et al.: A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage. Arthritis Rheum 2004; 50: 2920-30.
10. NEPOM BS, NEPOM GT, MICKELSON E, SCHALLER JG, ANTONELLI P, HANSEN JA: Specific HLA-DR4-associated histocompatibility molecules characterize patients with seropositive juvenile rheumatoid arthritis. J Clin Invest 1984; 74: 287-91.
11. GLASS DN, GIANNINI EH: Juvenile rheumatoid arthritis as a complex genetic trait. Arthritis Rheum 1999; 42: 2261-8.
12. HAAS JP, TRUCKENBRODT H, PAUL C, HOZA J, SCHOLZ S, ALBERT ED: Subtypes of HLA-DRB1*03, *08, *11, *12, *13 and *14 in early onset pauciarticular juvenile chronic arthritis (EOPA) with and without iridocyclitis. Clin Exp Rheumatol 1994; 12 (Suppl. 10): S7-14.
13. FØRRE O, SMERDEL A: Genetic epidemiology of juvenile idiopathic arthritis. Scand J Rheumatol 2002; 31: 123-8.
14. PRAHALAD S: Genetics of juvenile idioAathic arthritis: an update. Curr Opin Rheumatol 2004; 16: 588-94.
15. BEGOVICH AB, CARLTON VE, HONIGBERG LA et al.: A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 330-7.
16. BOTTINI N, MUSUMECI L, ALONSO A et al.: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36: 337-8.
17. ZHENG W, SHE JX: Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes 2005; 54: 906-8.
18. VELAGA MR, WILSON V, JENNINGS CE et al.: The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89: 5862-5.
19. CRISWELL LA, PFEIFFER KA, LUM RF et al.: Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005; 76: 561-71.
20. SELDIN MF, SHIGETA R, LAIHO K et al.: Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. Genes Immun 2005; 6: 720-2.
21. PETTY RE, SOUTHWOOD TR, MANNERS P et al.: International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: Second revision, Edmonton, 2001. J Rheumatol 2004; 31: 390-2.
22. RIDER LG, SHAMIM E, OKADA S et al.: Genetic risk and protective factors for idiopathic inflammatory myopathy in Koreans and American whites: A tale of two loci. Arthritis Rheum 1999; 42: 1285-90.
23. BARCELLOS LF, SAWCER S, RAMSAY PP et al.: Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet 2006; 15: 2813-24.
24. HASEGAWA K, MARTIN F, HUANG G, TUMAS D, DIEHL L, CHAN AC: PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 2004; 303: 685-9.
25. KYOGOKU C, LANGEFELD CD, ORTMANN WA et al.: Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75: 504-7.
26. CANTÓN I, AKHTAR S, GAVALAS NG et al.: A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. Genes Immun 2005; 6: 584-7.
27. BEGOVICH AB, CAILLIER SJ, ALEXANDER HC et al.: The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 2005; 76: 184-7.
28. NISTOR I, NAIR RP, STUART P et al.: Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: Lack of evidence for association. J Invest Dermatol 2005; 125: 395-6.
29. ITTAH M, GOTTENBERG JE, PROUST A et al.: No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome. Genes Immun 2005; 6: 457-8.
30. RUEDA B, NÚÑEZ C, OROZCO G et al.: C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Hum Immunol 2005; 66: 848-52.
31. VAN OENE M, WINTLE RF, LIU X et al.: Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis Rheum 2005; 52: 1993-8.
32. WIPFF J, ALLANORE Y, KAHAN A et al.: Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population. Ann Rheum Dis 2006; 65: 1230-2.
33. OROZCO G, GARCÍA-PORRÚA C, LÓPEZ-NEVOT MA, RAYA F, GONZÁLEZ-GAY MA, MARTÍN J: Lack of association between ankylosing spondylitis and a functional polymorphism of PTPN22 proposed as a general susceptibility marker for autoimmunity. Ann Rheum Dis 2006; 65: 687-8.
34. HINKS A, WORTHINGTON J, THOMSON W: The association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritis. Rheumatology (Oxford) 2006; 45: 365-8.
35. IKARI K, MOMOHARA S, INOUE E et al.: Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford) 2006; 45: 1345-8.
36. HARRISON P, POINTON JJ, FARRAR C, BROWN MA, WORDSWORTH BP: Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients. Rheumatology (Oxford) 2006; 45: 1009-11.
37. SCHMELING H, WAGNER U, PETERSON A, HORNEFF G: Tumor necrosis factor alpha promoter polymorphisms in patients with juvenile idiopathic arthritis. Clin Exp Rheumatol 2006; 24: 103-8.
38. VIVARELLI M, D'URBANO LE, INSALACO A et al.: Macrophage migration inhibitory factor (MIF) and oligoarticular juvenile idiopathic arthritis (o-JIA): Association of MIF promoter polymorphisms with response to intra-articular glucocorticoids. Clin Exp Rheumatol 2007; 25: 775-81.