The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples

Arthritis and Rheumatism

Volumn 63, Issue 2, 2011, Pages 365-372

  Rodríguez Rodríguez, Luis ^a   Taib, Wan Rohani Wan ^b   Topless, Ruth ^b   Steer, Sophia ^c   González Escribano, María F ^d   Balsa, Alejandro ^e   Pascual Salcedo, Dora ^e   González Gay, Miguel A ^f   Raya, Enrique ^g   Fernandez Gutierrez, Benjamín ^a   González Ãlvaro, Isidoro ^h   Bottini, Nunzio ⁱ   Witte, Torsten ^j   Viken, Marte K ^k   Coenen, Marieke J H ^l   Van Riel, Piet L C M ^l   Franke, Barbara ^l   Den Heijer, Martin ^l   Radstake, Timothy R D J ^l   Wordsworth, Paul ^m   Lie, Benedicte A ^k   Merriman, Tony R ^b   Martín, Javier ⁿ   more..

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^f HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^g HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^h HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

ⁱ LA JOLLA INSTITUTE FOR ALLERGY AND IMMUNOLOGY   (United States)

^j HANNOVER MEDICAL SCHOOL   (Germany)

^k OSLO UNIVERSITY HOSPITAL   (Norway)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY OF OXFORD   (United Kingdom)

ⁿ INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; FEMALE; GENE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; NEW ZEALAND; NORWAY; PRIORITY JOURNAL; PTPN22 GENE; RHEUMATOID ARTHRITIS; RISK FACTOR; SPAIN; SYSTEMIC LUPUS ERYTHEMATOSUS; UNITED KINGDOM;

CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22;

EID: 79551670693     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.30145     Document Type: Article

References (27)

1. Firestein GS,. Evolving concepts of rheumatoid arthritis. Nature 2003; 423: 356-61.
2. MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000; 43: 30-7.
3. Newton JL, Harney SM, Wordsworth BP, Brown MA,. A review of the MHC genetics of rheumatoid arthritis. Genes Immun 2004; 5: 151-7.
4. MacKay K, Eyre S, Myerscough A, Milicic A, Barton A, Laval S, et al. Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom. Arthritis Rheum 2002; 46: 632-9.
5. Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, Thomson BP, et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 2010; 42: 508-14.
6. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447: 661-78.
7. Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz R, et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 2005; 52: 219-24.
8. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, 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.
9. Simkins HM, Merriman ME, Highton J, Chapman PT, O'Donnell JL, Jones PB, et al. Association of the PTPN22 locus with rheumatoid arthritis in a New Zealand Caucasian cohort. Arthritis Rheum 2005; 52: 2222-5.
10. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36: 337-8.
11. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75: 504-7.
12. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseasesâa meta-analysis. Rheumatology (Oxford) 2007; 46: 49-56.
13. Cohen S, Dadi H, Shaoul E, Sharfe N, Roifman CM,. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 1999; 93: 2013-24.
14. Wu J, Katrekar A, Honigberg LA, Smith AM, Conn MT, Tang J, et al. Identification of substrates of human protein-tyrosine phosphatase PTPN22. J Biol Chem 2006; 281: 11002-10.
15. Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37: 1317-9.
16. Rieck M, Arechiga A, Onengut-Gumuscu S, Greenbaum C, Concannon P, Buckner JH,. Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. J Immunol 2007; 179: 4704-10.
17. Siggs OM, Miosge LA, Yates AL, Kucharska EM, Sheahan D, Brdicka T, et al. Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions. Immunity 2007; 27: 912-26.
18. Orru V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet 2009; 18: 569-79.
19. Carlton VE, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, et al. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005; 77: 567-81.
20. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31: 315-24.
21. Hoogendoorn EH, Hermus AR, de Vegt F, Ross HA, Verbeek AL, Kiemeney LA, et al. Thyroid function and prevalence of anti-thyroperoxidase antibodies in a population with borderline sufficient iodine intake: influences of age and sex. Clin Chem 2006; 52: 104-11.
22. 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.
23. Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, 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.
24. Lie BA, Viken MK, Odegard S, van der Heijde D, Landewe R, Uhlig T, et al. Associations between the PTPN22 1858CâT polymorphism and radiographic joint destruction in patients with rheumatoid arthritis: results from a 10-year longitudinal study. Ann Rheum Dis 2007; 66: 1604-9.
25. Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-7.
26. Dudbridge F,. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008; 66: 87-98.
27. Wegner N, Lundberg K, Kinloch A, Fisher B, Malmstrom V, Feldmann M, et al. Autoimmunity to specific citrullinated proteins gives the first clues to the etiology of rheumatoid arthritis. Immunol Rev 2010; 233: 34-54.