Literature DB >> 11548742

Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

I Vorechovsky1, J Kralovicova, E Tchilian, T Masterman, Z Zhang, B Ferry, S Misbah, H Chapel, D Webster, D Hellgren, M Anvret, J Hillert, L Hammarstrom, P C Beverley.   

Abstract

A 77G allele of the gene encoding CD45, also known as the protein tyrosine phosphatase receptor-type C gene (PTPRC), has been associated with multiple sclerosis (MS). Here we determine allele frequencies in large numbers of MS patients, primary immunodeficiencies linked to major histocompatibility complex (MHC) locus and over 1,000 controls to assess whether aberrant splicing of PTPRC caused by the 77C-->G polymorphism results in increased susceptibility to these diseases. Our results show no difference in the frequency of the 77G allele in patients and controls and thus do not support a causative role for the polymorphism in the development of disorders with a strong autoimmune component in etiology.

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Year:  2001        PMID: 11548742     DOI: 10.1038/ng723

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  17 in total

Review 1.  New approaches to investigating heterogeneity in complex traits.

Authors:  R Bomprezzi; P E Kovanen; R Martin
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

2.  PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients.

Authors:  Eleonora Cocco; Maria Rita Murru; Cristina Melis; Lucia Schirru; Elisabetta Solla; Marina Lai; Marcella Rolesu; Maria Giovanna Marrosu
Journal:  J Neurol       Date:  2004-09       Impact factor: 4.849

Review 3.  CD45: all is not yet crystal clear.

Authors:  Nick Holmes
Journal:  Immunology       Date:  2006-02       Impact factor: 7.397

4.  Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection.

Authors:  R Dawes; B Hennig; W Irving; S Petrova; S Boxall; V Ward; D Wallace; D C Macallan; M Thursz; A Hill; W Bodmer; P C L Beverley; E Z Tchilian
Journal:  J Med Genet       Date:  2006-02-27       Impact factor: 6.318

5.  Unusual case presentations associated with the CD45 C77G polymorphism.

Authors:  E Z Tchilian; J Gil; M L Navarro; E Fernandez-Cruz; H Chapel; S Misbah; B Ferry; H Renz; R Schwinzer; P C L Beverley
Journal:  Clin Exp Immunol       Date:  2006-12       Impact factor: 4.330

6.  A high-frequency polymorphism in exon 6 of the CD45 tyrosine phosphatase gene (PTPRC) resulting in altered isoform expression.

Authors:  Tara Stanton; Sally Boxall; Kouzo Hirai; Ritu Dawes; Susan Tonks; Tomoyo Yasui; Yasushi Kanaoka; Nadira Yuldasheva; Osamu Ishiko; Walter Bodmer; Peter C L Beverley; Elma Z Tchilian
Journal:  Proc Natl Acad Sci U S A       Date:  2003-04-25       Impact factor: 11.205

Review 7.  CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans.

Authors:  Tara Stanton; Sally Boxall; Andrea Bennett; Pontiano Kaleebu; Christine Watera; Jimmy Whitworth; Neil French; Ritu Dawes; Adrian V S Hill; Walter Bodmer; Peter C L Beverley; Elma Z Tchilian
Journal:  Immunogenetics       Date:  2004-04-01       Impact factor: 2.846

Review 8.  Regulation of TCR signalling by tyrosine phosphatases: from immune homeostasis to autoimmunity.

Authors:  Stephanie M Stanford; Novella Rapini; Nunzio Bottini
Journal:  Immunology       Date:  2012-09       Impact factor: 7.397

9.  Altered CD45 isoform expression in C77G carriers influences cytokine responsiveness and adhesion properties of T cells.

Authors:  A Windhagen; D Sönmez; H T Hornig-Do; A Kalinowsky; R Schwinzer
Journal:  Clin Exp Immunol       Date:  2007-09-28       Impact factor: 4.330

10.  CD45RC isoform expression identifies functionally distinct T cell subsets differentially distributed between healthy individuals and AAV patients.

Authors:  Laurence Ordonez; Isabelle Bernard; Fatima-Ezzahra L'faqihi-Olive; Jan Willem Cohen Tervaert; Jan Damoiseaux; Abdelhadi Saoudi
Journal:  PLoS One       Date:  2009-04-21       Impact factor: 3.240

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