The CD45 77C/G allele is not associated with myasthenia gravis - A reassessment of the potential role of CD45 in autoimmunity

BMC Research Notes

Volumn 3, Issue , 2010, Pages

  Ramanujam, Ryan ^a   Pirskanen, Ritva ^a   Hammarström, Lennart ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 78149271167     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-3-292     Document Type: Article

References (46)

1. Myasthenia gravis. DB Drachman, N Engl J Med 1994 330 1797 1810 10.1056/NEJM199406233302507 8190158
2. Genetic factors in autoimmune myasthenia gravis. M Giraud C Vandiedonck H Garchon, Ann N Y Acad Sci 2008 1132 180 192 10.1196/annals.1405.027 18567868
3. Histocompatibility (HL-A) antigens associated with myasthenia gravis. A preliminary report. R Pirskanen A Tiilikainen E Hokkanen, Ann Clin Res 1972 4 304 306 4644453
4. LD antigens associated with HL-A8 and myasthenia gravis. A Kaakinen R Pirskanen A Tiilikainen, Tissue Antigens 1975 6 175 182 10.1111/j.1399-0039. 1975.tb00632.x 53901
5. Linkage of HLA to myasthenia gravis and genetic heterogeneity depending on anti-titin antibodies. M Giraud G Beaurain AM Yamamoto B Eymard C Tranchant P Gajdos HJ Garchon, Neurology 2001 57 1555 1560 11706089
6. Distribution of HLA class II alleles among Scandinavian patients with systemic lupus erythematosus (SLE): an increased risk of SLE among non[DRB1*03,DQA1*0501,DQB1*0201] class II homozygotes? S Skarsvåg KE Hansen A Holst T Moen, Tissue Antigens 1992 40 128 133 10.1111/j.1399-0039.1992.tb02104.x 1440567
7. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. JE Volanakis ZB Zhu FM Schaffer KJ Macon J Palermos BO Barger R Go RD Campbell HW Schroeder MD Cooper, J Clin Invest 1992 89 1914 1922 10.1172/JCI115797 1351062
8. A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease. M Congia F Cucca F Frau R Lampis L Melis MG Clemente A Cao S De Virgiliis, Hum Immunol 1994 40 138 142 10.1016/0198-8859(94)90059-0 7928444
9. Protein tyrosine phosphatases in autoimmunity. T Vang AV Miletic Y Arimura L Tautz RC Rickert T Mustelin, Annu Rev Immunol 2008 26 29 55 10.1146/annurev.immunol.26.021607.090418 18303998
10. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. C Kung JT Pingel M Heikinheimo T Klemola K Varkila LI Yoo K Vuopala M Poyhonen M Uhari M Rogers SH Speck T Chatila ML Thomas, Nat Med 2000 6 343 345 10.1038/73208 10700239
11. A deletion in the gene encoding the CD45 antigen in a patient with SCID. EZ Tchilian DL Wallace RS Wells DR Flower G Morgan PC Beverley, J Immunol 2001 166 1308 1313 11145714
12. A point mutation in the human CD45 gene associated with defective splicing of exon A. H Thude J Hundrieser K Wonigeit R Schwinzer, Eur J Immunol 1995 25 2101 2106 10.1002/eji.1830250745 7621884
13. CD45: a critical regulator of signaling thresholds in immune cells. ML Hermiston Z Xu A Weiss, Annu Rev Immunol 2003 21 107 137 10.1146/annurev. immunol.21.120601.140946 12414720
14. PTPN22: Setting thresholds for autoimmunity. PK Gregersen H Lee F Batliwalla AB Begovich, Seminars in Immunology 2006 18 214 223 10.1016/j.smim.2006.03.009 16731003
15. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. AB Begovich VEH Carlton LA Honigberg SJ Schrodi AP Chokkalingam HC Alexander KG Ardlie Q Huang AM Smith JM Spoerke MT Conn M Chang SP Chang RK Saiki JJ Catanese DU Leong VE Garcia LB McAllister DA Jeffery AT Lee F Batliwalla E Remmers LA Criswell MF Seldin DL Kastner CI Amos JJ Sninsky PK Gregersen, Am J Hum Genet 2004 75 330 7 10.1086/422827 15208781
16. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. G Orozco E Snchez MA Gonzlez-Gay MA Lápez-Nevot B Torres R Cliz N Ortego-Centeno J Jiménez-Alonso D Pascual-Salcedo A Balsa R de Pablo A Nũez-Roldan MF Gonzlez-Escribano J Martín, Arthritis Rheum 2005 52 219 24 10.1002/art.20771 15641066
17. PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. C Chelala S Duchatelet M Joffret R Bergholdt D Dubois-Laforgue P Ghandil F Pociot S Caillat-Zucman J Timsit C Julier, Diabetes 2007 56 522 6 10.2337/db06-0942 17259401
18. The PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians and a meta-analysis. P Dieudé M Guedj J Wipff J Avouac E Hachulla E Diot B Granel J Sibilia J Cabane O Meyer L Mouthon A Kahan C Boileau Y Allanore, Arthritis Rheum 2008 58 2183 8 10.1002/art.23601 18576360
19. Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis. C Vandiedonck C Capdevielle M Giraud S Krumeich J Jais B Eymard C Tranchant P Gajdos H Garchon, Ann Neurol 2006 59 404 407 10.1002/ana.20751 16437561
20. A point mutation in PTPRC is associated with the development of multiple sclerosis. M Jacobsen D Schweer A Ziegler R Gaber S Schock R Schwinzer K Wonigeit RB Lindert O Kantarci J Schaefer-Klein HI Schipper WH Oertel F Heidenreich BG Weinshenker N Sommer B Hemmer, Nat Genet 2000 26 495 9 10.1038/82659 11101853
21. Phenylketonuria screening registry as a resource for population genetic studies. U Hannelius CM Lindgren E Melén A Malmberg U von Dobeln J Kere, J Med Genet 2005 42 60 10.1136/jmg.2005.032987 16199543
22. Determination of acetylcholine receptor antibody in myasthenia gravis: clinical usefulness and pathogenetic implications. AK Lefvert K Bergström G Matell PO Osterman R Pirskanen, J Neurol Neurosurg Psychiatr 1978 41 394 403 10.1136/jnnp.41.5.394 207825
23. Automated genotyping using the DNA MassArray technology. C Jurinke D van den Boom CR Cantor H Köster, Methods Mol Biol 2002 187 179 192 12013745
24. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. AD Skol LJ Scott GR Abecasis M Boehnke, Nat Genet 2006 38 209 213 10.1038/ng1706 16415888
25. Clinical, pathological, HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis. DA Compston A Vincent J Newsom-Davis JR Batchelor, Brain 1980 103 579 601 10.1093/brain/103.3.579 6968236
26. Phenotypical and biochemical characterization of a variant CD45R expression pattern in human leukocytes. R Schwinzer B Schraven U Kyas SC Meuer K Wonigeit, Eur J Immunol 1992 22 1095 1098 10.1002/eji.1830220433 1532361
27. Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population. C Ballerini E Rosati M Salvetti G Ristori S Cannoni T Biagioli L Massacesi S Sorbi M Vergelli, Neurosci Lett 2002 328 325 327 10.1016/S0304-3940(02)00565-7 12147336
28. CD45 (PTPRC) as a candidate gene in multiple sclerosis. T Vyshkina TP Leist YY Shugart B Kalman, Mult Scler 2004 10 614 617 10.1191/1352458504ms1115oa 15584483
29. Altered CD45 expression and disease. EZ Tchilian PC Beverley, Trends in Immunology 2006 27 146 153 10.1016/j.it.2006.01.001 16423560
30. CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers. M Gomez-Lira M Liguori C Magnani D Bonamini A Salviati M Leone V Andreoli M Trojano P Valentino G Savettieri A Quattrone PF Pignatti P Momigliano-Richiardi M Giordano, J Neuroimmunol 2003 140 216 21 10.1016/S0165-5728(03)00208-X 12864992
31. Enhanced frequency of a PTPRC (CD45) exon A mutation (77C - G) in systemic sclerosis. R Schwinzer T Witte J Hundrieser S Ehlers T Momot N Hunzelmann T Krieg RE Schmidt K Wonigeit, Genes Immun 2003 4 168 9 10.1038/sj.gene.6363894 12618866
32. -77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link. A Vogel CP Strassburg MP Manns, Genes Immun 2003 4 79 81 10.1038/sj.gene.6363918 12595907
33. Unusual case presentations associated with the CD45 C77G polymorphism. EZ Tchilian J Gil ML Navarro E Fernandez-Cruz H Chapel S Misbah B Ferry H Renz R Schwinzer PCL Beverley, Clin Exp Immunol 2006 146 448 454 10.1111/j.1365-2249. 2006.03230.x 17100764
34. An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population. AL Szvetko A Jones J Mackenzie L Tajouri PA Csurhes JM Greer MP Pender LR Griffiths, Brain Res 2009 1255 148 152 10.1016/j.brainres.2008.12.017 19111528
35. CD45 isoform expression in autoimmune myasthenia gravis. B Tackenberg M Nitschke N Willcox A Ziegler S Nessler F Schumm WH Oertel B Hemmer N Sommer, Autoimmunity 2003 36 117 121 10.1080/0891693031000084369 12820694
36. A point mutation within CD45 exon A is the cause of variant CD45RA splicing in humans. CF Zilch AM Walker M Timán LK Goff DL Wallace PC Beverley, Eur J Immunol 1998 28 22 29 10.1002/(SICI)1521-4141(199801)28: 01<22::AID-IMMU22>3.0.CO;2-7 9485182
37. PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients. LF Barcellos S Caillier L Dragone M Elder E Vittinghoff P Bucher RR Lincoln M Pericak-Vance JL Haines A Weiss SL Hauser JR Oksenberg, Nat Genet 2001 29 23 4 10.1038/ng722 11528386
38. Does 77C - > G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? I Vorechovsky J Kralovicova E Tchilian T Masterman Z Zhang B Ferry S Misbah H Chapel D Webster D Hellgren M Anvret J Hillert L Hammarstrom PC Beverley, Nat Genet 2001 29 22 3 10.1038/ng723 11548742
39. PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients. B Miterski E Sindern M Haupts S Schimrigk JT Epplen, BMC Med Genet 2002 3 3 10.1186/1471-2350-3-3 12028593
40. CD45 exon 4 point mutation does not confer susceptibility to type 1 diabetes mellitus or Graves' disease. JP Wood K Bieda M Segni J Herwig M Krause KH Usadel K Badenhoop, Eur J Immunogenet 2002 29 73 4 10.1046/j.1365-2370.2002. 00262.x 11841494
41. The role of the PTPRC (CD45) mutation in the development of multiple sclerosis in the North West region of the United Kingdom. RS Nicholas J Partridge RP Donn C Hawkins MD Boggild, J Neurol Neurosurg Psychiatr 2003 74 944 945 10.1136/jnnp.74.7.944 12810785
42. A transmembrane protein-tyrosine phosphatase receptor type C (CD45) exon A point mutation (77 C to G) is not associated with the development of type 1 diabetes mellitus in a German population. H Thude S Rosenhahn W Hunger-Dathe U Müller D Barz, Eur J Immunogenet 2004 31 245 7 10.1111/j.1365-2370.2004. 00479.x 15548260
43. PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients. E Cocco MR Murru C Melis L Schirru E Solla M Lai M Rolesu MG Marrosu, J Neurol 2004 251 1085 1088 10.1007/s00415-004-0485- 1 15372250
44. C77G mutation in protein tyrosine phosphatase CD45 gene and autoimmune hepatitis. F Esteghamat B Noorinayer MH Sanati A Hekmatdoost M Zafarghandi HM Shalmani M Agah MR Zali, Hepatol Res 2005 32 154 157 10.1016/j.hepres.2005.04. 006 15963758
45. No association between systemic sclerosis and C77G polymorphism in the human PTPRC (CD45) gene. H Kirsten M Blume F Emmrich N Hunzelmann R Mierau R Rzepka P Vaith T Witte I Melchers P Ahnert, J Rheumatol 2008 35 1817 9 18634151
46. Antibody deficiency diseases. Q Pan-Hammarström L Hammarström, Eur J Immunol 2008 38 327 33 10.1002/eji.200737927 18200502