Abstract
The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been implicated in the risk to several autoimmune disorders, including type 1 diabetes, Graves' disease, rheumatoid arthritis and systemic lupus erythematosus. In an association study of this single nucleotide polymorphism with celiac disease (CD), comparison of 262 young diagnosis patients and 214 adult controls from Spain showed a higher frequency of the minor allele in the CD group (9.7% vs 5.6% in controls; P = 0.018), suggestive of an increased genetic risk to the disease (odds ratio = 1.82; 95% confidence interval 1.1-3.0). These results support the role of PTPN22 as a general autoimmunity locus involved in tolerance induction in the thymus.
References
Apr 6, 1999·Gut·I Djilali-SaiahS Caillat-Zucman
Feb 28, 2002·Immunogenetics·Antonio Lopez-VazquezCarlos Lopez-Larrea
Apr 20, 2002·Current Opinion in Allergy and Clinical Immunology·K G Becker
Jun 7, 2002·Journal of Pediatric Gastroenterology and Nutrition·Paul ZubillagaJuan Carlos Vitoria
Aug 9, 2003·Lancet·Peter H R Green, Bana Jabri
Mar 9, 2004·Nature Genetics·Nunzio BottiniTomas Mustelin
Jun 10, 2004·Journal of Pediatric Gastroenterology and Nutrition·Luis CastañoJuan C Vitoria
Jun 23, 2004·American Journal of Human Genetics·Ann B BegovichPeter K Gregersen
Jul 27, 2004·American Journal of Human Genetics·Chieko KyogokuTimothy W Behrens
Nov 9, 2004·The Journal of Clinical Endocrinology and Metabolism·M R VelagaS H S Pearce
May 6, 2005·Genes and Immunity·A ZhernakovaB P C Koeleman
Jun 1, 2005·Best Practice & Research. Clinical Gastroenterology·David A van HeelCisca Wijmenga
Aug 23, 2005·Human Immunology·Blanca RuedaElena Urcelay
Jun 15, 2007·Nature Genetics·David A van HeelCisca Wijmenga
Aug 31, 2007·Autoimmunity·Torkel VangTomas Mustelin
Citations
Dec 17, 2008·The New England Journal of Medicine·Deborah J SmythJohn A Todd
Dec 19, 2008·Thyroid : Official Journal of the American Thyroid Association·Georg DultzGeorge J Kahaly
Jul 6, 2014·PloS One·Kenneth Andrew Ross
Aug 13, 2013·Endocrine·Liqiong XueHuaidong Song
Oct 19, 2012·Genes and Immunity·J ZhengX Yu
Mar 25, 2010·Tissue Antigens·P C ChagastellesN B Nardi
Dec 3, 2014·Frontiers in Immunology·Francesco BonattiDavide Martorana
May 10, 2017·Fetal and Pediatric Pathology·Majid AflatounianNima Rezaei
Apr 16, 2013·Aesthetic Plastic Surgery·Jose Abel de la Peña-SalcedoJocelyn Celeste Ledezma-Rodriguez
Jun 17, 2009·Current Opinion in Gastroenterology·Matthew J ArmstrongPeter D Howdle
Mar 28, 2019·Frontiers in Pediatrics·Darja Smigoc SchweigerVita Dolzan
Jun 22, 2010·Molecular Diagnosis & Therapy·Asem AlkhateebTasnim Al Rashaideh