Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addisons disease
Karolinska Institute, Sweden; Metab and Diabet Karolinska University Hospital, Sweden.
Uppsala University, Sweden.
Karolinska Institute, Sweden; Uppsala University, Sweden.
Uppsala University, Sweden.
Show others and affiliations
2016 (English)In: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 286, no 6, p. 595-608Article in journal (Refereed) Published
Abstract [en]

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 aetiology. MethodsTo understand the genetic background of Addisons 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 Addisons disease and 1394 controls. ResultsWe identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 x 10(-15), MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addisons disease development. We also confirmed the previously known associations with the HLA complex. ConclusionWhilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addisons disease, we have identified BACH2 as a major risk locus in Addisons disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment.

Place, publisher, year, edition, pages
WILEY-BLACKWELL , 2016. Vol. 286, no 6, p. 595-608
Keyword [en]
Addison Disease; BACH2 protein; genetic; genetic association studies; genetic predisposition to disease; human; polymorphism
National Category
Rheumatology and Autoimmunity
Identifiers
URN: urn:nbn:se:liu:diva-133382DOI: 10.1111/joim.12569ISI: 000388573300007PubMedID: 27807919OAI: oai:DiVA.org:liu-133382DiVA, id: diva2:1060081
Note

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)

Available from: 2016-12-27 Created: 2016-12-22 Last updated: 2017-11-29

Open Access in DiVA

fulltext(1090 kB)61 downloads
File information
File name FULLTEXT01.pdfFile size 1090 kBChecksum SHA-512
94f229b9016dce30ca026ea242ec707daf51dee7381b0e55bf1ac7b69aacb7f87de3aa1bad730bd09e920f3b4ce7ac3170a174637db90d74426a13dff94325fb
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Söderkvist, PeterWahlberg Topp, Jeanette
By organisation
Division of Cell BiologyFaculty of Medicine and Health SciencesDepartment of Clinical Pathology and Clinical GeneticsDivision of Cardiovascular MedicineDepartment of Endocrinology
In the same journal
Journal of Internal Medicine
Rheumatology and Autoimmunity

Search outside of DiVA

GoogleGoogle Scholar
Total: 61 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 96 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf