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  • Lobell, AnnaUppsala universitet,Autoimmunitet,Newcastle University, England,Uppsala University, Sweden (author)

Association of Autoimmune Addison's Disease with Alleles of STAT4 and GATA3 in European Cohorts

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-03-10
  • Public Library of Science (PLoS),2014

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/197696
  • https://gup.ub.gu.se/publication/197696URI
  • https://doi.org/10.1371/journal.pone.0088991DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-110279URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-88285URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:128571344URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-223893URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-106092URI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Background: Gene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component to disease susceptibility has yet to be accounted for. Aim: To investigate the role of 19 candidate genes in AAD susceptibility in six European case-control cohorts. Methods: A sequential association study design was employed with genotyping using Sequenom iPlex technology. In phase one, 85 SNPs in 19 genes were genotyped in UK and Norwegian AAD cohorts (691 AAD, 715 controls). In phase two, 21 SNPs in 11 genes were genotyped in German, Swedish, Italian and Polish cohorts (1264 AAD, 1221 controls). In phase three, to explore association of GATA3 polymorphisms with AAD and to determine if this association extended to other autoimmune conditions, 15 SNPs in GATA3 were studied in UK and Norwegian AAD cohorts, 1195 type 1 diabetes patients from Norway, 650 rheumatoid arthritis patients from New Zealand and in 283 UK Graves' disease patients. Meta-analysis was used to compare genotype frequencies between the participating centres, allowing for heterogeneity. Results: We report significant association with alleles of two STAT4 markers in AAD cohorts (rs4274624: P = 0.00016; rs10931481: P = 0.0007). In addition, nominal association of AAD with alleles at GATA3 was found in 3 patient cohorts and supported by meta-analysis. Association of AAD with CYP27B1 alleles was also confirmed, which replicates previous published data. Finally, nominal association was found at SNPs in both the NF-kappa B1 and IL23A genes in the UK and Italian cohorts respectively. Conclusions: Variants in the STAT4 gene, previously associated with other autoimmune conditions, confer susceptibility to AAD. Additionally, we report association of GATA3 variants with AAD: this adds to the recent report of association of GATA3 variants with rheumatoid arthritis.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Macarthur, K. D. R.Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England (author)
  • Gan, E. H.Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway,Newcastle University, England (author)
  • Baggott, L. E.Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England (author)
  • Bensing, SophieUppsala universitet,Karolinska Institutet,Autoimmunitet,University of Bergen, Norway,Uppsala University, Sweden Karolinska Institute, Sweden(Swepub:uu)sopbe271 (author)
  • Skinningsrud, B.Oslo University Hospital, Norway University of Oslo, Norway (author)
  • Platt, H.CIGMR, Institute of Population Health, University of Manchester, Manchester, United Kingdom,University of Manchester, England (author)
  • Short, A.University of Manchester, England (author)
  • Lobell, A.Karolinska Institutet (author)
  • Kämpe, OlleUppsala universitet,Karolinska Institutet,Autoimmunitet,Uppsala University, Sweden(Swepub:uu)ollekamp (author)
  • Bensing, S. (author)
  • Betterle, C.Department of Medicine, University of Padua School of Medicine, Padua, Italy (author)
  • Kasperlik-Zaluska, A.Department of Endocrinology, Center for Postgraduate Medical Education, Warsaw, Poland,Medical Centre Postgrad Educ, Poland (author)
  • Zurawek, M.Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland (author)
  • Fichna, M.Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland (author)
  • Kockum, I.Karolinska Institutet,Karolinska Institute, Sweden Karolinska Institute, Sweden (author)
  • Eriksson, G. N.Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden (author)
  • Ekwall, Olov,1968Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden(Swepub:gu)xekwol (author)
  • Wahlberg, Jeanette,1969-Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för kardiovaskulär medicin,Hälsouniversitetet,Endokrinmedicinska kliniken(Swepub:liu)jeawa98 (author)
  • Dahlqvist, PerUmeå universitet,Medicin,Umeå University, Sweden(Swepub:umu)perdat96 (author)
  • Hulting, A. L.Karolinska Institutet, Stockholm, Sweden (author)
  • Penna-Martinez, M.Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany (author)
  • Meyer, G.Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany (author)
  • Kahles, H.Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany (author)
  • Badenhoop, K.Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany (author)
  • Hahner, S.University Hospital Wuerzburg (Department of Medicine, Endocrinology and Diabetology), Wuerzburg, Germany,Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England (author)
  • Quinkler, M.Clinical Endocrinology, Charité Campus Mitte, Charité University Medicine Berlin, Berlin, Germany (author)
  • Falorni, A.Department of Internal Medicine, University of Perugia, Perugia, Italy (author)
  • Phipps-Green, A.Department of Biochemistry, University of Otago, Otago, New Zealand (author)
  • Merriman, T. R.Department of Biochemistry, University of Otago, Otago, New Zealand (author)
  • Ollier, W.CIGMR, Institute of Population Health, University of Manchester, Manchester, United Kingdom,University of Manchester, England (author)
  • Cordell, H. J.Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England (author)
  • Undlien, D.Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; University of Oslo, Oslo, Norway (author)
  • Czarnocka, B.Department of Biochemistry and Molecular Biology, Center for Postgraduate Medical Education, Warsaw, Poland,Medical Centre Postgrad Educ, Poland (author)
  • Husebye, E. (author)
  • Pearce, S. H. S. (author)
  • Uppsala universitetAutoimmunitet (creator_code:org_t)

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  • In:Plos One: Public Library of Science (PLoS)9:31932-6203

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