CTLA4 gene and Graves' disease: association of Graves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism

Clinical Endocrinology
B VaidyaS H S Pearce

Abstract

Recent studies have shown that Graves' disease (GD) is linked to and associated with alleles of the cytotoxic T lymphocyte antigen-4 (CTLA4) locus. However, the true pathogenic polymorphism(s) at this locus remains uncertain. Moreover, the association studies of the promoter CTLA4(-318)C/T polymorphism in white GD populations have produced conflicting results. Therefore, we have analysed three CTLA4 single nucleotide polymorphisms, including promoter CTLA4(-318)C/T, exon 1 CTLA4(49)A/G and intron 1 CTLA4(1822)C/T in our GD cohort from the UK. We studied 301 white patients with GD and 349 healthy ethnically matched local controls. Amongst GD probands, 129 had significant thyroid-associated orbitopathy (TAO; NOSPECS class III or worse). The CTLA4(-318)C/T, CTLA4(49)A/G and CTLA4(1822)C/T polymorphisms were genotyped by using the restriction enzymes MseI, Bst71I and HaeIII, respectively. We found no association between GD and alleles of CTLA4(-318)C/T. GD was found to be associated with the G allele of CTLA4(49)A/G[P = 5.9 x 10(-6), odds ratio (OR) 1.65] and the T allele of CTLA4(1822)C/T (P = 7.7 x 10(-6), OR 1.64). The frequencies of these alleles were significantly higher in GD probands with significant TAO than in those withou...Continue Reading

References

Dec 1, 1993·Endocrine Reviews·H B Burch, L Wartofsky
Jan 1, 1997·The Journal of Clinical Endocrinology and Metabolism·H DonnerK Badenhoop
Jun 17, 1999·Human Molecular Genetics·B VaidyaS H Pearce
Dec 29, 1999·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K AgarwalP T Donaldson
Jul 25, 2000·Thyroid : Official Journal of the American Thyroid Association·Y J ParkB Y Cho
Oct 21, 2000·Thyroid : Official Journal of the American Thyroid Association·R VillanuevaT F Davies
Apr 9, 2002·Journal of Endocrinological Investigation·T KoukiL J Degroot
Jun 1, 1955·Annals of Human Genetics·B WOOLF

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Citations

Mar 24, 2005·Thyroid : Official Journal of the American Thyroid Association·Antonio PetroneRaffaella Buzzetti
Mar 24, 2005·Thyroid : Official Journal of the American Thyroid Association·Manuela Dittmar, George J Kahaly
Mar 31, 2006·Thyroid : Official Journal of the American Thyroid Association·Hyun-Jung ChoJong-Won Kim
Jun 8, 2006·Thyroid : Official Journal of the American Thyroid Association·Dorota KulaBarbara Jarzab
Jan 12, 2011·Thyroid : Official Journal of the American Thyroid Association·Oliver J Brand, Stephen C L Gough
Oct 5, 2010·PLoS Computational Biology·Raoul FrijtersWynand Alkema
Jul 26, 2014·PloS One·Beata Jurecka-LubienieckaBarbara Jarzab
Aug 15, 2014·International Journal of Genomics·Pengfei DuChangjiang Wang
May 21, 2010·Cancer Investigation·Nasrollah ErfaniAbbas Ghaderi
May 29, 2012·Best Practice & Research. Clinical Endocrinology & Metabolism·Chiaw-Ling ChngDaphne Hsu Chin Khoo
Jun 16, 2009·European Journal of Internal Medicine·Alireza EsteghamatiAliakbar Amirzargar
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 25, 2007·Clinical Endocrinology·Tomasz BednarczukJack R Wall
Jul 11, 2008·Immunological Reviews·Kenneth J Scalapino, David I Daikh
Nov 22, 2005·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Dimitry A ChistiakovLev M Demurov
Jul 21, 2016·Immunologic Research·María-Teresa ArangoYehuda Shoenfeld
Jun 3, 2004·Rheumatic Diseases Clinics of North America·Joel M Kremer
Mar 20, 2004·Clinical and Experimental Immunology·M J Simmonds, S C L Gough
Jul 22, 2005·Genes and Immunity·A Ramírez-SorianoD Comas
May 17, 2007·The Journal of Clinical Endocrinology and Metabolism·Fotini K KavvouraJohn P A Ioannidis
Jan 25, 2008·Seminars in Ophthalmology·Nancy Kim, Mark P Hatton
Apr 30, 2020·Immunotherapy·Maria V DeligiorgiDimitrios T Trafalis
Nov 28, 2012·Experimental and Therapeutic Medicine·Xiaoyu SiYing Luo
Jun 15, 2007·Immunological Investigations·Mariela CaputoDaniel Frechtel Gustavo

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