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Literature DB >> 18075792

PTPN22: its role in SLE and autoimmunity.

Abstract

A functional variant of protein tyrosine phosphatase nonreceptor 22 (PTPN22) has recently been shown to be associated with multiple autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, type 1 diabetes, and autoimmune thyroid disease. In this review, we discuss the structure and function of this gene and its disease-associated polymorphisms. In addition, we review the studies investigating the association between this gene and SLE, along with other autoimmune diseases.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2007 PMID： 18075792 PMCID： PMC2875134 DOI： 10.1080/08916930701510848

Source DB: PubMed Journal: Autoimmunity ISSN： 0891-6934 Impact factor: 2.815

47 in total

Review 1. Autoimmune disease: why and where it occurs.

Authors: P Marrack; J Kappler; B L Kotzin
Journal: Nat Med Date: 2001-08 Impact factor: 53.440

2. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.

Authors: Hironori Ueda; Joanna M M Howson; Laura Esposito; Joanne Heward; Hywel Snook; Giselle Chamberlain; Daniel B Rainbow; Kara M D Hunter; Annabel N Smith; Gianfranco Di Genova; Mathias H Herr; Ingrid Dahlman; Felicity Payne; Deborah Smyth; Christopher Lowe; Rebecca C J Twells; Sarah Howlett; Barry Healy; Sarah Nutland; Helen E Rance; Vin Everett; Luc J Smink; Alex C Lam; Heather J Cordell; Neil M Walker; Cristina Bordin; John Hulme; Costantino Motzo; Francesco Cucca; J Fred Hess; Michael L Metzker; Jane Rogers; Simon Gregory; Amit Allahabadia; Ratnasingam Nithiyananthan; Eva Tuomilehto-Wolf; Jaakko Tuomilehto; Polly Bingley; Kathleen M Gillespie; Dag E Undlien; Kjersti S Rønningen; Cristian Guja; Constantin Ionescu-Tîrgovişte; David A Savage; A Peter Maxwell; Dennis J Carson; Chris C Patterson; Jayne A Franklyn; David G Clayton; Laurence B Peterson; Linda S Wicker; John A Todd; Stephen C L Gough
Journal: Nature Date: 2003-04-30 Impact factor: 49.962

3. Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population.

Authors: V Baca; R Velázquez-Cruz; G Salas-Martínez; F Espinosa-Rosales; Y Saldaña-Alvarez; L Orozco
Journal: Genes Immun Date: 2006-10-26 Impact factor: 2.676

4. Association of PTPN22 haplotypes with Graves' disease.

Authors: Joanne M Heward; Oliver J Brand; Jeffrey C Barrett; Jackie D Carr-Smith; Jayne A Franklyn; Stephen C Gough
Journal: J Clin Endocrinol Metab Date: 2006-12-05 Impact factor: 5.958

Review 5. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis.

Authors: Y H Lee; Y H Rho; S J Choi; J D Ji; G G Song; S K Nath; J B Harley
Journal: Rheumatology (Oxford) Date: 2006-06-07 Impact factor: 7.580

6. No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.

Authors: Ondrej Cinek; Ondrej Hradsky; Gunduz Ahmedov; Antonij Slavcev; Stanislava Kolouskova; Michal Kulich; Zdenek Sumnik
Journal: Diabetes Res Clin Pract Date: 2006-09-26 Impact factor: 5.602

7. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.

Authors: Kenneth M Kaufman; Jennifer A Kelly; Billy J Herring; Adam J Adler; Stuart B Glenn; Bahram Namjou; Summer G Frank; Sarah L Dawson; Gail R Bruner; Judith A James; John B Harley
Journal: Arthritis Rheum Date: 2006-08

8. Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene.

Authors: Laëtitia Michou; Sandra Lasbleiz; Anne-Christine Rat; Paola Migliorini; Alejandro Balsa; René Westhovens; Pilar Barrera; Helena Alves; Céline Pierlot; Elodie Glikmans; Sophie Garnier; Jean Dausset; Carlos Vaz; Manuela Fernandes; Elisabeth Petit-Teixeira; Isabelle Lemaire; Dora Pascual-Salcedo; Stefano Bombardieri; Jan Dequeker; Timothy R Radstake; Piet Van Riel; Leo van de Putte; Antonio Lopes-Vaz; Bernard Prum; Thomas Bardin; Philippe Dieudé; François Cornélis
Journal: Proc Natl Acad Sci U S A Date: 2007-01-19 Impact factor: 11.205

9. Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele.

Authors: E Balada; J Villarreal-Tolchinsky; J Ordi-Ros; M Labrador; S Serrano-Acedo; L Martinez-Lostao; M Vilardell-Tarrés
Journal: Tissue Antigens Date: 2006-11

10. Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population.

Authors: J Wipff; Y Allanore; A Kahan; O Meyer; L Mouthon; L Guillevin; C Pierlot; E Glikmans; T Bardin; C Boileau; F Cornélis; P Dieudé
Journal: Ann Rheum Dis Date: 2006-02-07 Impact factor: 19.103

40 in total

Review 1. Genetics of Sjögren's syndrome in the genome-wide association era.

Authors: John A Ice; He Li; Indra Adrianto; Paul Chee Lin; Jennifer A Kelly; Courtney G Montgomery; Christopher J Lessard; Kathy L Moser
Journal: J Autoimmun Date: 2012-01-29 Impact factor: 7.094

2. Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia.

Authors: Jingchun Chen; Grace Lee; Ayman H Fanous; Zhongming Zhao; Peilin Jia; Anthony O'Neill; Dermot Walsh; Kenneth S Kendler; Xiangning Chen
Journal: Schizophr Res Date: 2011-07-14 Impact factor: 4.939

Review 3. Recent insights into the genetic basis of systemic lupus erythematosus.

Authors: K L Moser; J A Kelly; C J Lessard; J B Harley
Journal: Genes Immun Date: 2009-05-14 Impact factor: 2.676

Review 4. Molecular mechanisms in autoimmune type 1 diabetes: a critical review.

Authors: Zhiguo Xie; Christopher Chang; Zhiguang Zhou
Journal: Clin Rev Allergy Immunol Date: 2014-10 Impact factor: 8.667

Review 5. Genetics, environment, and gene-environment interactions in the development of systemic rheumatic diseases.

Authors: Jeffrey A Sparks; Karen H Costenbader
Journal: Rheum Dis Clin North Am Date: 2014-09-02 Impact factor: 2.670

6. PTPN22 deficiency cooperates with the CD45 E613R allele to break tolerance on a non-autoimmune background.

Authors: Julie Zikherman; Michelle Hermiston; David Steiner; Kiminori Hasegawa; Andrew Chan; Arthur Weiss
Journal: J Immunol Date: 2009-04-01 Impact factor: 5.422

7. Association of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis.

Authors: Zhitao Chen; Heng Zhang; Bing Xia; Ping Wang; Ting Jiang; Min Song; Jie Wu
Journal: Int J Colorectal Dis Date: 2013-03-03 Impact factor: 2.571