Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease

The Journal of Clinical Endocrinology and Metabolism
Anne BlomhoffDag E Undlien

Abstract

The cytotoxic T lymphocyte antigen-4 (CTLA4) gene on chromosome 2q33 encodes a key regulator in the adaptive immune system. The CTLA4 surface molecule is expressed on activated T lymphocytes and involved in down-regulation of the immune response. Previous studies on a possible association between autoimmune Addison's disease and CTLA4 polymorphisms have shown conflicting results. A recent study identified new candidate polymorphisms in the CTLA4 region, influencing gene splicing and thereby the relative abundance of soluble CTLA4. We genotyped 134 patients with Addison's disease and 413 healthy controls from Norway and United Kingdom for these newly identified polymorphisms. Our data demonstrate that the same polymorphisms that have recently been demonstrated to confer susceptibility to autoimmune thyroid disease and type 1 diabetes also confer susceptibility to Addison's disease. This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.

References

Jul 1, 1991·Tissue Antigens·A P WeetmanO M Edwards
Jul 16, 1987·Nature·J F BrunetP Golstein
Dec 17, 1997·The Journal of Clinical Endocrinology and Metabolism·H DonnerK Badenhoop
Feb 24, 2001·Genes and Immunity·O P KristiansenF Pociot
Feb 12, 2002·The Journal of Clinical Endocrinology and Metabolism·Anne Grethe MyhreEystein S Husebye
Jun 20, 2002·Clinical Endocrinology·Kristian Løvås, Eystein S Husebye
Oct 2, 2002·European Journal of Immunology·Claire N ManzottiDavid M Sansom

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Citations

Dec 29, 2006·Journal of Clinical Immunology·Adina Kay KnightCharlotte Cunningham-Rundles
Jun 14, 2005·Lancet·Kristian Løvås, Eystein S Husebye
Feb 11, 2010·European Journal of Human Genetics : EJHG·Volker RuppertUNKNOWN German Heart Failure Network
Feb 1, 2012·Nature Reviews. Endocrinology·Anna L Mitchell, Simon H S Pearce
Aug 20, 2011·BMC Medical Genetics·Ingeborg BrønstadEystein S Husebye
Jul 16, 2010·The Journal of Clinical Endocrinology and Metabolism·Peter R BakerGeorge S Eisenbarth
Feb 13, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·J von SchnurbeinM Wabitsch
Nov 15, 2007·Proceedings of the National Academy of Sciences of the United States of America·Lisa M MaierDavid A Hafler
Sep 13, 2006·Proceedings of the National Academy of Sciences of the United States of America·Theresa A AlyGeorge S Eisenbarth
Sep 25, 2014·European Journal of Endocrinology·Ingeborg BrønstadAnette Susanne Bøe Wolff
Jan 30, 2013·Immunogenetics·Jonathan MasseyLorna J Kennedy
Mar 28, 2008·Expert Opinion on Investigational Drugs·Kristian Løvås, Eystein S Husebye
Nov 21, 2007·Cancer Investigation·Lee D Cranmer, Evan Hersh
Sep 20, 2012·Molecular and Cellular Endocrinology·Eirik BratlandEystein S Husebye
Nov 26, 2009·The Veterinary Journal·Angela M HughesAnita M Oberbauer
Jun 9, 2009·Best Practice & Research. Clinical Endocrinology & Metabolism·Eystein Husebye, Kristian Løvås
Oct 22, 2008·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·C ToloneE Miraglia del Giudice
Mar 26, 2005·Immunological Reviews·Stephen C L GoughDavid M Sansom
May 26, 2007·Scandinavian Journal of Immunology·A S B WolffE S Husebye
Jul 11, 2008·Immunological Reviews·Kenneth J Scalapino, David I Daikh
Sep 21, 2010·Acta Neurologica Scandinavica·S NischwitzF Weber
Jul 24, 2015·Genes and Immunity·A S B WolffE S Husebye
Jul 18, 2008·Transplantation Reviews·Bernd KrügerBarbara T Murphy
Mar 31, 2009·Endocrinology and Metabolism Clinics of North America·Eystein S Husebye, Kristian Løvås
Mar 29, 2014·Molecular Immunology·Trine E BjanesoyMarit Bakke
May 4, 2011·Memórias do Instituto Oswaldo Cruz·Viviane F LozanoMaria Sueli S Felipe
Apr 29, 2008·Arquivos brasileiros de endocrinologia e metabologia·George S Eisenbarth, Joy Jeffrey
Jul 12, 2005·Journal of Neuroimmunology·Aslaug R LorentzenHanne F Harbo
Mar 4, 2010·Tissue Antigens·A D ShortW E R Ollier
Jul 3, 2008·The Journal of Clinical Endocrinology and Metabolism·Beate SkinningsrudDag E Undlien
Oct 24, 2009·The Journal of Clinical Endocrinology and Metabolism·Anna L MitchellSimon H S Pearce
Jul 26, 2019·Journal of Clinical Pathology·Vikas KailashiyaJyotsna Kailashiya
Jan 6, 2011·Clinical Chemistry·Andrea K Steck, Marian J Rewers

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