The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease.

Clinical Endocrinology
Matthew RoycroftSimon Pearce

Abstract

Previous studies of the association between autoimmune Addison's disease (AAD) and a nonsynonymous single nucleotide polymorphism (SNP) in the PTPN22 gene (C1858T, pR620W; SNP ID no. rs2476601) have shown conflicting results. We aimed to examine this association using additional cohorts of AAD subjects from the UK and Poland. DNA samples were obtained from UK and Polish AAD subjects (n = 251 and 87, respectively) and ethnically matched healthy controls (n = 429 and 236, respectively). Genotyping for the C1858T PTPN22 marker was performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. Meta-analysis of the results, together with those from three other populations, was performed using RevMan v5.0 software. In 251 UK AAD subjects the frequency of the PTPN22 1858T allele was 12.2% compared to 7.8% in healthy UK controls; P = 0.008. Similarly, in 87 Polish AAD subjects the PTPN22 1858T allele was found in 19.5% of alleles compared to 11.7% in healthy Polish subjects; P = 0.010. A meta-analysis, combining these result with published data for three other populations, involving 797 AAD subjects and 2032 controls in total, showed that the 1858T allele was associated with AAD susceptibility with a ...Continue Reading

References

Feb 7, 2001·The Journal of Clinical Endocrinology and Metabolism·T H BrixL Hegedüs
Jun 20, 2002·Clinical Endocrinology·Kristian Løvås, Eystein S Husebye
May 11, 2004·European Journal of Endocrinology·Bijay Vaidya, Simon Pearce
Jul 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Anne BlomhoffDag E Undlien
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
Jan 5, 2005·Nature Reviews. Immunology·Tomas MustelinNunzio Bottini
Mar 3, 2005·The Journal of Clinical Endocrinology and Metabolism·Hitomi HirataniTakashi Akamizu
Jun 30, 2005·Arthritis and Rheumatism·Helen M A SimkinsTony R Merriman
Nov 8, 2005·Nature Genetics·Torkel VangNunzio Bottini
Jan 5, 2006·European Journal of Human Genetics : EJHG·Philip L De JagerJohn D Rioux
Jan 18, 2006·Trends in Molecular Medicine·Simon H S Pearce, Tony R Merriman
May 30, 2006·Seminars in Immunology·Peter K GregersenAnn B Begovich
Jan 4, 2007·The Journal of Clinical Endocrinology and Metabolism·Catherine J OwenTony R Merriman
Aug 31, 2007·Autoimmunity·Torkel VangTomas Mustelin
Oct 19, 2007·Nature·UNKNOWN International HapMap ConsortiumJohn Stewart
Nov 16, 2007·Nature·Sergey NejentsevUNKNOWN Wellcome Trust Case Control Consortium
Dec 18, 2007·Clinical Endocrinology·Abigail A ZeitlinStephen C L Gough
Feb 28, 2008·European Journal of Human Genetics : EJHG·Beate SkinningsrudDag E Undlien

❮ Previous
Next ❯

Citations

Sep 3, 2013·The Journal of Heredity·Andrea D ShortBill Ollier
Aug 2, 2011·Dermatology Research and Practice·Naoki OisoAkira Kawada
Jul 6, 2014·PloS One·Kenneth Andrew Ross
Aug 13, 2013·BioMed Research International·Styliani GizaAssimina Galli-Tsinopoulou
Sep 25, 2014·European Journal of Endocrinology·Ingeborg BrønstadAnette Susanne Bøe Wolff
Nov 26, 2009·The Veterinary Journal·Angela M HughesAnita M Oberbauer
Jun 4, 2010·International Journal of Immunogenetics·M FichnaJ Nowak
May 16, 2015·Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research·Kine EdvardsenEirik Bratland
Aug 4, 2012·The Journal of Allergy and Clinical Immunology·Gary Y J ChewMatthew C Cook
Mar 31, 2015·Topics in Companion Animal Medicine·Alisdair M Boag, Brian Catchpole
Feb 1, 2012·Nature Reviews. Endocrinology·Anna L Mitchell, Simon H S Pearce
Aug 20, 2010·European Journal of Clinical Investigation·Janneke WieboltTimon W van Haeften
Oct 24, 2009·The Journal of Clinical Endocrinology and Metabolism·Anna L MitchellSimon H S Pearce
Nov 5, 2016·The Journal of Clinical Endocrinology and Metabolism·Agnieszka PazderskaSimon H Pearce
Jun 22, 2010·Molecular Diagnosis & Therapy·Asem AlkhateebTasnim Al Rashaideh
Apr 11, 2018·Annales d'endocrinologie·Alexander HellesenEystein S Husebye
May 10, 2021·Endocrine·Marta FichnaMarek Ruchała

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