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- Eriksson, DKarolinska Institutet,Karolinska Institute, Sweden; Metab and Diabet Karolinska University Hospital, Sweden (author)
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
- Article/chapterEnglish2016
Publisher, publication year, extent ...
- 2016-11-02
- Wiley,2016
- electronicrdacarrier
Numbers
- LIBRIS-ID:oai:DiVA.org:umu-127426
- https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-127426URI
- https://doi.org/10.1111/joim.12569DOI
- https://res.slu.se/id/publ/79763URI
- https://gup.ub.gu.se/publication/246314URI
- https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-110417URI
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-311491URI
- http://kipublications.ki.se/Default.aspx?queryparsed=id:134669433URI
- https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-133382URI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- Funding Agencies:AstraZenecaSwedish Research CouncilKAW FoundationSwedish Reumatism FoundationKing Gustaf V′s 80-year FoundationNovo Nordisk FoundationTorsten and Ragnar Söderberg's Foundations
- Funding Agencies|Swedish Research Council; Torsten Foundation; Ragnar Soderberg Foundation; European Union [201167]; Stockholm County Council; Karolinska Institutet; Swedish Society for Medical Research; Swedish Society of Medicine; NovoNordisk Foundation; Tore Nilsons Foundation for Medical Research; Swedish Research Council Formas; Knut and Alice Wallenberg Foundation; Marianne and Marcus Wallenberg Foundation; Swedish Reumatism Foundation; King Gustaf Vs 80-year Foundation; Ake Wiberg Foundation; AstraZeneca Science for Life Laboratory Research Collaboration grant (DIS-SECT)
- BACKGROUND: Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology.METHODS: To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls.RESULTS: We identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 × 10(-15) , MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex.CONCLUSION: Whilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison's disease, we have identified BACH2 as a major risk locus in Addison's disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Endokrinologi och diabetes hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Endocrinology and Diabetes hsv//eng
- LANTBRUKSVETENSKAPER Bioteknologi med applikationer på växter och djur Genetik och förädling inom lantbruksvetenskap hsv//swe
- AGRICULTURAL SCIENCES Agricultural Biotechnology Genetics and Breeding in Agricultural Sciences hsv//eng
- LANTBRUKSVETENSKAPER Husdjursvetenskap Husdjursvetenskap hsv//swe
- AGRICULTURAL SCIENCES Animal and Dairy Sience Animal and Dairy Science. hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Allmänmedicin hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine General Practice hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Reumatologi och inflammation hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Rheumatology and Autoimmunity hsv//eng
- Amyloid
- Amyloid neuropathies
- Amyloidosis
- Hereditary
- Cardiomyopathies
- Secondary
- Gastrointestinal disorders
- Functional
- Nutritional status
- Quality of life
- Transthyretin
Added entries (persons, corporate bodies, meetings, titles ...)
- Bianchi, MatteoUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)matbi944 (author)
- Landegren, NilsKarolinska Institutet,Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden.,Karolinska Institute, Sweden; Uppsala University, Sweden(Swepub:uu)nilla544 (author)
- Nordin, JessikaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)jesno731 (author)
- Dalin, FridaUppsala universitet,Dermatologi och venereologi,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden.,Karolinska Institute, Sweden; Uppsala University, Sweden(Swepub:uu)frida306 (author)
- Mathioudaki, ArgyriUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)argma542 (author)
- Eriksson, G NDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. (author)
- Hultin-Rosenberg, LinaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)linhu641 (author)
- Dahlqvist, JohannaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Uppsala University, Sweden(Swepub:uu)johda205 (author)
- Zetterqvist, HUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden; Uppsala University, Sweden (author)
- Karlsson, AndreasUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)andka286 (author)
- Hallgren, AnnaUppsala universitet,Infektionssjukdomar,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden.,Karolinska Institute, Sweden; Uppsala University, Sweden(Swepub:uu)annem203 (author)
- Farias, F H GUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden (author)
- Murén, EvaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)evmur020 (author)
- Ahlgren, Kerstin M.Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)keahl192 (author)
- Lobell, AnnaKarolinska Institutet,Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden,Karolinska Institute, Sweden(Swepub:uu)anlob030 (author)
- Andersson, GöranSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden,Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden.(Swepub:slu)50422 (author)
- Tandre, KarolinaUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)karotand (author)
- Rantapää Dahlqvist, SolbrittUmeå universitet,Reumatologi,Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden.(Swepub:umu)sora0001 (author)
- Söderkvist, PeterLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik(Swepub:liu)petso43 (author)
- Rönnblom, LarsUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)larsronn (author)
- Hulting, A-L (author)
- Wahlberg, Jeanette,1969-Linköpings universitet,Avdelningen för kardiovaskulär medicin,Medicinska fakulteten,Region Östergötland, Endokrinmedicinska kliniken(Swepub:liu)jeawa98 (author)
- Ekwall, Olov,1968Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Clinical Sciences, Department of Pediatrics,Institute of Medicine, Department of Rheumatology and Inflammation Research,Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Dept Pediat, Inst Clin Sci, Gothenburg, Sweden.;Univ Gothenburg, Dept Rheumatol & Inflammat Res, Inst Med, Sahlgrenska Acad, Gothenburg, Sweden.(Swepub:gu)xekwol (author)
- Dahlqvist, PerUmeå universitet,Medicin,Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden.(Swepub:umu)perdat96 (author)
- Meadows, Jennifer R. S.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)jenme818 (author)
- Bensing, SKarolinska Institutet,Metab and Diabet Karolinska University Hospital, Sweden; Karolinska Institute, Sweden (author)
- Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA.,Uppsala University, Sweden; Broad Institute MIT and Harvard, MA USA(Swepub:uu)kerli865 (author)
- Kämpe, OlleKarolinska Institutet,Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden.;Metab & Diabet Karolinska Univ Hosp, Dept Endocrinol, Stockholm, Sweden.,Karolinska Institute, Sweden; Metab and Diabet Karolinska University Hospital, Sweden; Uppsala University, Sweden(Swepub:uu)ollekamp (author)
- Pielberg, GerliUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Genomik,Uppsala University, Sweden(Swepub:uu)gepie020 (author)
- Karolinska InstitutetKarolinska Institute, Sweden; Metab and Diabet Karolinska University Hospital, Sweden (creator_code:org_t)
- Sveriges lantbruksuniversitet
Related titles
- In:Journal of Internal Medicine: Wiley286:6, s. 595-6080954-68201365-2796
Internet link
- https://doi.org/10.1111/joim.12569Fulltext
- https://umu.diva-portal.org/smash/get/diva2:1045871/FULLTEXT01.pdffulltext:print
- https://doi.org/10.1111/joim.12569
- https://uu.diva-portal.org/smash/get/diva2:1060495/FULLTEXT01.pdffulltext:print
- https://liu.diva-portal.org/smash/get/diva2:1060081/FULLTEXT01.pdffulltext:print
- https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-127426
- https://doi.org/10.1111/joim.12569
- https://res.slu.se/id/publ/79763
- https://gup.ub.gu.se/publication/246314
- https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-110417
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-311491
- http://kipublications.ki.se/Default.aspx?queryparsed=id:134669433
- https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-133382
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