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Sökning: onr:"swepub:oai:gup.ub.gu.se/197696" > Association of Auto...

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

Lobell, Anna (författare)
Uppsala universitet,Autoimmunitet,Newcastle University, England,Uppsala University, Sweden
Macarthur, K. D. R. (författare)
Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England
Gan, E. H. (författare)
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
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Baggott, L. E. (författare)
Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England
Bensing, Sophie (författare)
Uppsala universitet,Karolinska Institutet,Autoimmunitet,University of Bergen, Norway,Uppsala University, Sweden Karolinska Institute, Sweden
Skinningsrud, B. (författare)
Oslo University Hospital, Norway University of Oslo, Norway
Platt, H. (författare)
CIGMR, Institute of Population Health, University of Manchester, Manchester, United Kingdom,University of Manchester, England
Short, A. (författare)
University of Manchester, England
Lobell, A. (författare)
Karolinska Institutet
Kämpe, Olle (författare)
Uppsala universitet,Karolinska Institutet,Autoimmunitet,Uppsala University, Sweden
Bensing, S. (författare)
Betterle, C. (författare)
Department of Medicine, University of Padua School of Medicine, Padua, Italy
Kasperlik-Zaluska, A. (författare)
Department of Endocrinology, Center for Postgraduate Medical Education, Warsaw, Poland,Medical Centre Postgrad Educ, Poland
Zurawek, M. (författare)
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Fichna, M. (författare)
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Kockum, I. (författare)
Karolinska Institutet,Karolinska Institute, Sweden Karolinska Institute, Sweden
Eriksson, G. N. (författare)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Ekwall, Olov, 1968 (författare)
Gothenburg 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
Wahlberg, Jeanette, 1969- (författare)
Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för kardiovaskulär medicin,Hälsouniversitetet,Endokrinmedicinska kliniken
Dahlqvist, Per (författare)
Umeå universitet,Medicin,Umeå University, Sweden
Hulting, A. L. (författare)
Karolinska Institutet, Stockholm, Sweden
Penna-Martinez, M. (författare)
Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany
Meyer, G. (författare)
Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany
Kahles, H. (författare)
Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany
Badenhoop, K. (författare)
Department Medicine (Division Endocrinology), University Hospital Frankfurt, Goethe-University, Frankfurt, Germany,Goethe University of Frankfurt, Germany
Hahner, S. (författare)
University Hospital Wuerzburg (Department of Medicine, Endocrinology and Diabetology), Wuerzburg, Germany,Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England
Quinkler, M. (författare)
Clinical Endocrinology, Charité Campus Mitte, Charité University Medicine Berlin, Berlin, Germany
Falorni, A. (författare)
Department of Internal Medicine, University of Perugia, Perugia, Italy
Phipps-Green, A. (författare)
Department of Biochemistry, University of Otago, Otago, New Zealand
Merriman, T. R. (författare)
Department of Biochemistry, University of Otago, Otago, New Zealand
Ollier, W. (författare)
CIGMR, Institute of Population Health, University of Manchester, Manchester, United Kingdom,University of Manchester, England
Cordell, H. J. (författare)
Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom,Newcastle University, England
Undlien, D. (författare)
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; University of Oslo, Oslo, Norway
Czarnocka, B. (författare)
Department of Biochemistry and Molecular Biology, Center for Postgraduate Medical Education, Warsaw, Poland,Medical Centre Postgrad Educ, Poland
Husebye, E. (författare)
Pearce, S. H. S. (författare)
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 (creator_code:org_t)
2014-03-10
2014
Engelska.
Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 9:3
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)

Nyckelord

rheumatoid-arthritis
graves-disease
hashimotos-thyroiditis
identical-twins
population
gene
susceptibility
polymorphism
haplotype
prevalence
MEDICINE

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