Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis

European Journal of Human Genetics

Volumn 14, Issue 3, 2006, Pages 317-321

  De Jager, Philip L ^a,b   Sawcer, Stephen ^c   Waliszewska, Alicja ^a,b   Farwell, Lisa ^b   Wild, Gary ^d   Cohen, Albert ^e   Langelier, Diane ^f   Bitton, Alain ^d   Compston, Alastair ^c   Hafler, David A ^a,b   Rioux, John D ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD UNIVERSITY   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

Author keywords

Association study; Crohn's disease; Multiple sclerosis; PTPN22

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE N22; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CANADA; CASE CONTROL STUDY; CONTROLLED STUDY; CROHN DISEASE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; INFLAMMATORY DISEASE; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; UNITED KINGDOM;

ALLELES; CANADA; CASE-CONTROL STUDIES; CROHN DISEASE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREAT BRITAIN; HUMANS; INFLAMMATION; MODELS, STATISTICAL; MULTIPLE SCLEROSIS; ODDS RATIO; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE; RISK;

EID: 33645136222     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201548     Document Type: Article

References (28)

1. 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.
2. 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.
3. 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: 184-187.
4. 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.
5. Hasegawa K, Martin F, Huang G et al: PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 2004; 303: 685-689.
6. Wen Z, Fiocchi C: InflAmmatory bowel disease: autoimmune or immune-mediated pathogenesis? Clin Dev Immunol 2004; 11: 195-204.
7. Hafler DA, Slavik JM, Anderson DE et al: Multiple sclerosis. Immunol Rev 2005; 204: 208-231.
8. Smyth D, Cooper JD, Collins JE et al: Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004; 53: 3020-3023.
9. 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: 561-571.
10. Cho JH, Nicolae DL, Gold LH et al: Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1. Proc Natl Acad Sci USA 1998; 95: 7502-7507.
11. Hensiek AE, Roxburgh R, Smilie B et al: Updated results of the United Kingdom linkage-based genome screen in multiple sclerosis. J Neuroimmunol 2003; 143: 25-30.
12. Dyment DA, Sadovnick AD, Willer CJ et al: An extended genome scan in 442 Canadian multiple sclerosis-affected sibships: A report from the Canadian Collaborative Study Group. Hum Mol Genet 2004; 13: 1005-1015.
13. Kenealy SJ, Babron MC, Bradford Y et al: A second-generation genomic screen for multiple sclerosis. Am J Hum Genet 2004; 75: 1070-1078.
14. van Heel DA, Fisher SA, Kirby A et al: Genome scan meta-analysis group of the IBD international genetics consortium. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet 2004; 13: 763-770.
15. GAMES; Transatlantic Multiple Sclerosis Genetics Cooperative: A meta-analysis of whole genome linkage screens in multiple sclerosis. J Neuroimmunol 2003; 143: 39-46.
16. Sawcer S, Ban M, Maranian M et al: A high-density screen for linkage in multiple sclerosis. Am J Hum Genet 2005; 77: 454-467.
17. Matesanz F, Rueda B, Orozco G et al: Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. J Neurol 2005; 252: 994-995.
18. 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: 1694-1699.
19. 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: 1993-1998.
20. Wagenleiter SE, Klein W, Griga T et al: A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease. Int J Immunogenet 2005; 32: 323-324.
21. Poser CM, Paty DW, Scheinberg L et al: New diagnostic criteria for multiple sclerosis: Guidelines for research protocols. Ann Neurol 1983; 13: 227-231.
22. Lennard-Jones JE: Classification of inflammatory bowel disease. Scand J Gastroenterol 1989; 170: 2-6.
23. Vermeire S, Wild G, Kocher K et al: CARD15 genetic variation in a Quebec population: Prevalence, genotype-phenotype relationship, and haplotype structure. Am J Hum Genet 2002; 71: 74-83.
24. Spielman RS, Ewens WJ: The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 199; 59: 983-989.
25. Daly MJ, Kruglyak L, Pratt S et al: GENEHUNTER 2.0-a complete linkage analysis system. Am J Hum Genet 1998; 63: S286.
26. Morris JA, Gardner MJ: Calculating confidence intervals for relative risks (odds ratios) and standardised ratios and rates. Br Med J (Clin Res Ed) 1988; 296: 1313-1316.
27. McDonald WI, Compston A, Edan G et al: Recommended diagnostic criteria for multiple sclerosis: Guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50: 121-127.
28. Purcell S, Cherny SSD Sham PC: Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149-150.