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  • Artaza, HaydeeUniv Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway. (author)

Rare copy number variation in autoimmune Addison's disease

  • Article/chapterEnglish2024

Publisher, publication year, extent ...

  • Frontiers Media S.A.2024
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-526534
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-526534URI
  • https://doi.org/10.3389/fimmu.2024.1374499DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Autoimmune Addison's disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes, which mostly encode proteins participating in the immune response, affect the risk of developing this condition. However, little is known about the contribution of copy number variations (CNVs) to AAD susceptibility. We used the genome-wide genotyping data from Norwegian and Swedish individuals (1,182 cases and 3,810 controls) to investigate the putative role of CNVs in the AAD aetiology. Although the frequency of rare CNVs was similar between cases and controls, we observed that larger deletions (>1,000 kb) were more common among patients (OR = 4.23, 95% CI 1.85-9.66, p = 0.0002). Despite this, none of the large case-deletions were conclusively pathogenic, and the clinical presentation and an AAD-polygenic risk score were similar between cases with and without the large CNVs. Among deletions exclusive to individuals with AAD, we highlight two ultra-rare deletions in the genes LRBA and BCL2L11, which we speculate might have contributed to the polygenic risk in these carriers. In conclusion, rare CNVs do not appear to be a major cause of AAD but further studies are needed to ascertain the potential contribution of rare deletions to the polygenic load of AAD susceptibility.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Eriksson, DanielUppsala universitet,Institutionen för immunologi, genetik och patologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.(Swepub:uu)daner854 (author)
  • Lavrichenko, KseniaUniv Bergen, Dept Clin Sci, Bergen, Norway.;Oslo Univ Hosp, Dept Med Genet, Oslo, Norway. (author)
  • Aranda-Guillen, MaribelKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden. (author)
  • Bratland, EirikUniv Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway.;Univ Bergen, Mohn Ctr Diabet Precis Med, Dept Clin Sci, Bergen, Norway. (author)
  • Vaudel, MarcUniv Bergen, Mohn Ctr Diabet Precis Med, Dept Clin Sci, Bergen, Norway.;Univ Bergen, Dept Informat, Computat Biol Unit, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat Hlth Data & Digitalizat, Oslo, Norway. (author)
  • Knappskog, PerUniv Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway. (author)
  • Husebye, Eystein S.Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med, Bergen, Norway. (author)
  • Bensing, SophieKarolinska Univ Hosp, Dept Endocrinol, Stockholm, Sweden.;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. (author)
  • Wolff, Anette S. B.Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med, Bergen, Norway. (author)
  • Kämpe, Olle,1956-Uppsala universitet,Institutionen för immunologi, genetik och patologi(Swepub:uu)ollekamp (author)
  • Røyrvik, Ellen C.Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat, Bergen, Norway. (author)
  • Johansson, StefanUniv Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway. (author)
  • Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.Institutionen för immunologi, genetik och patologi (creator_code:org_t)

Related titles

  • In:Frontiers in Immunology: Frontiers Media S.A.151664-3224

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