The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls

Genome Medicine

Volumn 4, Issue 1, 2012, Pages

  Ronninger, Marcus ^a   Guo, Yongjing ^b   Shchetynsky, Klementy ^a   Hill, Andrew ^c   Khademi, Mohsen ^a   Olsson, Tomas ^a   Reddy, Padmalatha S ^c   Seddighzadeh, Maria ^a   Clark, James D ^b   Lin, Lih Ling ^b   O'Toole, Margot ^b   Padyukov, Leonid ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b PFIZER INC   (United States)

^c Massachusetts Research Business Technologies   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIINFLAMMATORY AGENT; CYCLIC CITRULLINATED PEPTIDE ANTIBODY; DISEASE MODIFYING ANTIRHEUMATIC DRUG; GAMMA INTERFERON; MESSENGER RNA; METHOTREXATE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; RHEUMATOID FACTOR; RNA;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ACTIVITY; FEMALE; GENDER; GENE EXPRESSION PROFILING; GENE LOCUS; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84862776666     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm301     Document Type: Article

References (31)

1. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK. 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. 10.1086/422827, 1216068, 15208781.
2. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK. 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. 10.1086/429096, 1199294, 15719322.
3. 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, 93:2013-2024.
4. 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, 179:4704-4710.
5. Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, Mustelin T, Bottini N. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005, 37:1317-1319. 10.1038/ng1673, 16273109.
6. Arechiga AF, Habib T, He Y, Zhang X, Zhang ZY, Funk A, Buckner JH. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J Immunol 2009, 182:3343-3347. 10.4049/jimmunol.0713370, 2797545, 19265110.
7. Carlton VE, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, Chang M, Catanese JJ, Leong DU, Ardlie KG, Kastner DL, Seldin MF, Criswell LA, Gregersen PK, Beasley E, Thomson G, Amos CI, Begovich AB. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005, 77:567-581. 10.1086/468189, 1275606, 16175503.
8. Wan Taib WR, Smyth DJ, Merriman ME, Dalbeth N, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp L, Steer S, Todd JA, Merriman TR. The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp. PLoS One 2010, 5:e13544. 10.1371/journal.pone.0013544, 2958827, 20975833.
9. Rodriguez-Rodriguez L, Taib WR, Topless R, Steer S, Gonzalez-Escribano MF, Balsa A, Pascual-Salcedo D, Gonzalez-Gay MA, Raya E, Fernandez-Gutierrez B, Gonzalez-Alvaro I, Bottini N, Witte T, Viken MK, Coenen MJ, van Riel PL, Franke B, den Heijer M, Radstake TR, Wordsworth P, Lie BA, Merriman TR, Martin J. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples. Arthritis Rheum 2011, 63:365-372. 10.1002/art.30145, 21279993.
10. Kallberg H, Padyukov L, Plenge RM, Ronnelid J, Gregersen PK, van der Helm-van Mil AH, Toes RE, Huizinga TW, Klareskog L, Alfredsson L. Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. Am J Hum Genet 2007, 80:867-875. 10.1086/516736, 1852748, 17436241.
11. Morgan AW, Thomson W, Martin SG, Carter AM, Erlich HA, Barton A, Hocking L, Reid DM, Harrison P, Wordsworth P, Steer S, Worthington J, Emery P, Wilson AG, Barrett JH. Reevaluation of the interaction between HLA-DRB1 shared epitope alleles, PTPN22, and smoking in determining susceptibility to autoantibody-positive and autoantibody-negative rheumatoid arthritis in a large UK Caucasian population. Arthritis Rheum 2009, 60:2565-2576. 10.1002/art.24752, 19714585.
12. Vang T, Miletic AV, Arimura Y, Tautz L, Rickert RC, Mustelin T. Protein tyrosine phosphatases in autoimmunity. Annu Rev Immunol 2008, 26:29-55. 10.1146/annurev.immunol.26.021607.090418, 18303998.
13. Wang S, Dong H, Han J, Ho WT, Fu X, Zhao ZJ. Identification of a variant form of tyrosine phosphatase LYP. BMC Mol Biol 2010, 11:78. 10.1186/1471-2199-11-78, 2987843, 21044313.
14. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988, 31:315-324. 10.1002/art.1780310302, 3358796.
15. Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR, Li W, Tan AK, Bonnard C, Ong RT, Thalamuthu A, Pettersson S, Liu C, Tian C, Chen WV, Carulli JP, Beckman EM, Altshuler D, Alfredsson L, Criswell LA, Amos CI, Seldin MF, Kastner DL, Klareskog L, Gregersen PK. TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med 2007, 357:1199-1209. 10.1056/NEJMoa073491, 2636867, 17804836.
16. Lundstrom E, Kallberg H, Alfredsson L, Klareskog L, Padyukov L. Gene-environment interaction between the DRB1 shared epitope and smoking in the risk of anti-citrullinated protein antibody-positive rheumatoid arthritis: all alleles are important. Arthritis Rheum 2009, 60:1597-1603. 10.1002/art.24572, 2732897, 19479873.
17. Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Borjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet 2005, 37:486-494. 10.1038/ng1544, 15821736.
18. Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Megarbane A, Delague V. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Eur J Hum Genet 2010, 18:1107-1113. 10.1038/ejhg.2010.82, 2987462, 20531441.
19. Spencer S, Dowbenko D, Cheng J, Li W, Brush J, Utzig S, Simanis V, Lasky LA. PSTPIP: a tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase. J Cell Biol 1997, 138:845-860. 10.1083/jcb.138.4.845, 2138048, 9265651.
20. Bierer BE, Burakoff SJ. T-lymphocyte activation: the biology and function of CD2 and CD4. Immunol Rev 1989, 111:267-294. 10.1111/j.1600-065X.1989.tb00549.x, 2483402.
21. Selvaraj P, Plunkett ML, Dustin M, Sanders ME, Shaw S, Springer TA. The T lymphocyte glycoprotein CD2 binds the cell surface ligand LFA-3. Nature 1987, 326:400-403. 10.1038/326400a0, 2951597.
22. Davidson D, Cloutier JF, Gregorieff A, Veillette A. Inhibitory tyrosine protein kinase p50csk is associated with protein-tyrosine phosphatase PTP-PEST in hemopoietic and non-hemopoietic cells. J Biol Chem 1997, 272:23455-23462. 10.1074/jbc.272.37.23455, 9287362.
23. Cloutier JF, Veillette A. Association of inhibitory tyrosine protein kinase p50csk with protein tyrosine phosphatase PEP in T cells and other hemopoietic cells. EMBO J 1996, 15:4909-4918. 452228, 8890164.
24. Mustelin T, Tasken K. Positive and negative regulation of T-cell activation through kinases and phosphatases. Biochem J 2003, 371:15-27. 10.1042/BJ20021637, 1223257, 12485116.
25. Davidson D, Veillette A. PTP-PEST, a scaffold protein tyrosine phosphatase, negatively regulates lymphocyte activation by targeting a unique set of substrates. EMBO J 2001, 20:3414-3426. 10.1093/emboj/20.13.3414, 125513, 11432829.
26. Begovich AB, Caillier SJ, Alexander HC, Penko JM, Hauser SL, Barcellos LF, Oksenberg JR. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 2005, 76:184-187. 10.1086/427244, 1196423, 15580548.
27. Matesanz F, Rueda B, Orozco G, Fernandez O, Leyva L, Alcina A, Martin J. Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. J Neurol 2005, 252:994-995. 10.1007/s00415-005-0795-y, 15765267.
28. Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE, Donn R, Thomson W, Silman A, Worthington J. 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. 10.1002/art.21049, 15934099.
29. De Jager PL, Sawcer S, Waliszewska A, Farwell L, Wild G, Cohen A, Langelier D, Bitton A, Compston A, Hafler DA, Rioux JD. Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis. Eur J Hum Genet 2006, 14:317-321. 10.1038/sj.ejhg.5201548, 16391555.
30. Ensembl. , http://www.ensembl.org
31. UCSC Genome Browser. , http://genome.ucsc.edu/