Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease

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Eriksson, D.; Bianchi, Matteo; Landegren, Nils; Nordin, Jessika; Dalin, Frida; Mathioudaki, Argyri; Eriksson, G. N.; Hultin-Rosenberg, Lina; Dahlqvist, Johanna; Zetterqvist, H.; Karlsson, Andreas; Hallgren, Anna; Farias, F. H. G.; Murén, Eva; Ahlgren, Kerstin M.; Lobell, Anna; Andersson, G.; Tandre, Karolina; Dahlqvist, S. R.; Soderkvist, P.; Rönnblom, Lars; Hulting, A. -L; Wahlberg, J.; Ekwall, O.; Dahlqvist, P.; Meadows, Jennifer R. S.; Bensing, S.; Lindblad-Toh, Kerstin; Kämpe, Olle; Pielberg, Gerli R.;
(2016)
  • Publisher: Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden.;Metab & Diabet Karolinska Univ Hosp, Dept Endocrinol, Stockholm, Sweden.
  • Related identifiers: doi: 10.1111/joim.12569
  • Subject: Gastrointestinal disorders | Functional | Endokrinologi och diabetes | Amyloidosis | Reumatologi och inflammation | polymorphism | Allmänmedicin | Endocrinology and Diabetes | Addison Disease | human | Amyloid neuropathies | genetic | Rheumatology and Autoimmunity | Nutritional status | Transthyretin | BACH2 protein | Secondary | Amyloid | General Practice | Hereditary | genetic association studies | genetic predisposition to disease | Quality of life | Addison Disease; BACH2 protein; genetic; genetic association studies; genetic predisposition to disease; human; polymorphism | Cardiomyopathies

BackgroundAutoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addisons disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its ae... View more