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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Eriksson, Daniel; Bianchi, Matteo; Landegren, Nils; Dalin, Frida; Skov, Jakob; Hultin-Rosenberg, Lina; Mathioudaki, Argyri; Nordin, Jessika; Hallgren, Åsa; Andersson, Göran; Tandre, Karolina; Rantapää Dahlqvist, Solbritt; Söderkvist, Peter; Rönnblom, Lars; Hulting, Anna-Lena; Wahlberg, Jeanette; Dahlqvist, Per; Ekwall, Olov; Meadows, Jennifer R S; Lindblad-Toh, Kerstin; Bensing, Sophie; Rosengren Pielberg, Gerli; Kämpe, Olle.
Afiliación
  • Eriksson D; Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. daniel.eriksson@ki.se.
  • Bianchi M; Department of Endocrinology, Metabolism and Diabetes Karolinska University Hospital, Stockholm, Sweden. daniel.eriksson@ki.se.
  • Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
  • Dalin F; Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Skov J; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
  • Hultin-Rosenberg L; Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Mathioudaki A; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
  • Nordin J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Hallgren Å; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
  • Andersson G; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
  • Tandre K; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
  • Rantapää Dahlqvist S; Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Söderkvist P; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
  • Rönnblom L; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
  • Hulting AL; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
  • Wahlberg J; Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
  • Dahlqvist P; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
  • Ekwall O; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Meadows JRS; Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
  • Lindblad-Toh K; Department of Endocrinology, Linköping University, Linköping, Sweden.
  • Bensing S; Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
  • Rosengren Pielberg G; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
  • Kämpe O; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Sci Rep ; 8(1): 8395, 2018 05 30.
Article en En | MEDLINE | ID: mdl-29849176
Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Variación Genética / Enfermedad de Addison / Predisposición Genética a la Enfermedad / Sitios Genéticos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2018 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Variación Genética / Enfermedad de Addison / Predisposición Genética a la Enfermedad / Sitios Genéticos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2018 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido