The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status

Genes and Immunity

Volumn 6, Issue 2, 2005, Pages 129-133

  Lee, A T ^a   Li, W ^a   Liew, A ^a   Bombardier, C ^b   Weisman, M ^c   Massarotti, E M ^d   Kent, J ^e   Wolfe, F ^f   Begovich, A B ^g   Gregersen, P K ^a  

^a North Shore LIJ Research Institute ^*  (United States)

^b UNIVERSITY OF TORONTO   (Canada)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d TUFTS MEDICAL CENTER   (United States)

^e ABBOTT LABORATORIES   (United States)

^f Natl Data Bank Rheumatic Diseases   (United States)

^g CELERA   (United States)

Author keywords

Genetic association; HLA; PTPN22; RF positive; Rheumatoid arthritis; Risk allele

Indexed keywords

CYTOSINE; EPITOPE; HLA ANTIGEN; HLA DR ANTIGEN; PROTEIN TYROSINE PHOSPHATASE; RHEUMATOID FACTOR; TYROSINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CAUCASIAN; CONCENTRATION RESPONSE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN INTERACTION; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ARTHRITIS, RHEUMATOID; COHORT STUDIES; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HLA-DR ANTIGENS; HUMANS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-TYROSINE-PHOSPHATASE; RHEUMATOID FACTOR; RISK FACTORS;

EID: 20144388808     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6364159     Document Type: Article

References (30)

1. McInnes IB. Rheumatoid arthritis. From bench to bedside. Rheum Dis Clin N Am 2001; 27: 373-387.
2. Gabriel SE. The epidemiology of rheumatoid arthritis. Rheum Dis Clin N Am 2001; 27: 269-281.
3. Firestein GS. Evolving concepts of rheumatoid arthritis. Nature 2003; 423: 356-361.
4. Dorner T, Egerer K, Feist E, Burmester GR. Rheumatoid factor revisited. Curr Opin Rheumatol 2004; 16: 246-253.
5. Newkirk MM. Rheumatoid factors: what do they tell us? J Rheumatol 2002; 29: 2034-2040.
6. Davidson A, Bridges Jr SL. Autoimmunity. In: St Clair EW, Pisetsky DS, Haynes BF (eds). Rheumatoid Arthritis. Lippincott Williams and Williams: Philadelphia, 2004, pp 197-212.
7. Halldorsdottir HD, Jonsson T, Thorsteinsson J, Valdimarsson H. A prospective study on the incidence of rheumatoid arthritis among people with persistent increase of rheumatoid factor. Ann Rheum Dis 2000; 59: 149-151.
8. Rantapaa-Dahlqvist S, de Jong BA, Berglin E et al. Antibodies against cyclic citrullinated peptide and IgA rheumatoid factor predict the development of rheumatoid arthritis. Arthritis Rheum 2003; 48: 2741-2749.
9. Nielen MM, van Schaardenburg D, Reesink HW et al. Specific autoantibodies precede the symptoms of rheumatoid arthritis: a study of serial measurements in blood donors. Arthritis Rheum 2004; 50: 380-386.
10. 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: 330-337.
11. Baugh JA, Chitnis S, Donnelly SC et al. A functional promoter polymorphism in the macrophage migration inhibitory factor (MIF) gene associated with disease severity in rheumatoid arthritis. Genes Immun 2002; 3: 170-176.
12. Bombardier C, Deaton R, Gregersen P, Massarotti E, Formica C, Weisman M. Pattern of DMARD use in a North American cohort of patients with early rheumatoid arthritis (SONORA). Arthritis Rheum 2002; 46: S344 (abstract).
13. Fries JF, Wolfe F, Apple R et al. HLA-DRB1 genotype associations in 793 white patients from a rheumatoid arthritis inception cohort: frequency, severity, and treatment bias. Arthritis Rheum 2002; 46: 2320-2329.
14. 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: 685-689.
15. 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: 337-338.
16. 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: 504-507.
17. Arbuckle MR, McClain MT, Rubertone MV et al. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N Engl J Med 2003; 349: 1526-1533.
18. Hoppu S, Ronkainen MS, Kulmala P, Akerblom HK, Knip M, Childhood Diabetes in Finland Study Group. GAD65 antibody isotypes and epitope recognition during the prediabetic process in siblings of children with type I diabetes. Clin Exp Immunol 2004; 136: 120-128.
19. Strieder TG, Prummel MF, Tijssen JG, Endert E, Wiersinga WM. Risk factors for and prevalence of thyroid disorders in a cross-sectional study among healthy female relatives of patients with autoimmune thyroid disease. Clin Endocrinol (Oxford) 2003; 59: 396-401.
20. Weyand CM, Kurtin PJ, Goronzy JJ. Ectopic lymphoid organogenesis: a fast track for autoimmunity. Am J Pathol 2001; 159: 787-793.
21. Luzina IG, Atamas SP, Storrer CE et al. Spontaneous formation of germinal centers in autoimmune mice. J Leukocyte Biol 2001; 70: 578-584.
22. Weyand CM, Goronzy JJ. Ectopic germinal center formation in rheumatoid synovitis. Ann NY Acad Sci 2003; 987: 140-149.
23. Haberman AM, William J, Euler C, Shlomchik MJ. Rheumatoid factors in health and disease: structure, function, induction and regulation. Curr Dir Autoimmun 2003; 6: 169-195.
24. Randen I, Thompson KM, Pascual V et al. Rheumatoid factor V genes from patients with rheumatoid arthritis are diverse and show evidence of an antigen-driven response. Immunol Rev 1992; 128: 49-71.
25. Kang YM, Zhang X, Wagner UG et al. CD8T cells are required for the formation of ectopic germinal centers in rheumatoid synovitis. J Exp Med 2002; 195: 1325-1336.
26. Mattey DL, Dawes PT, Clarke S et al. Relationship among the HLA-DRB1 shared epitope, smoking, and rheumatoid factor production in rheumatoid arthritis. Arthritis Rheum 2002; 47: 403-407.
27. Choi HK, Hernan MA, Seeger JD, Robins JM, Wolfe F. Methotrexate therapy and mortality in patients with rheumatoid arthritis: a prospective study. Lancet 2002; 359: 1173-1177.
28. Wolfe F, Michaud K, Gefeller O, Choi HK. Predicting mortality in patients with rheumatoid arthritis. Arthritis Rheum 2003; 48 1530-1542.
29. Jawaheer D, Li W, Graham RR et al. Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Am J Hum Genet 2002; 71: 585-594.
30. Woolf B. On estimating the relationship between blood group and disease. Ann Hum Genet 1955; 19: 251-253.