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Sökning: onr:"swepub:oai:DiVA.org:oru-109935" > Hailey-Hailey Disea...

  • Curman, PhilipKarolinska Institutet (författare)

Hailey-Hailey Disease is Associated with Diabetes : A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • Medical Journals Sweden,2023
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-109935
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-109935URI
  • https://doi.org/10.2340/actadv.v103.10436DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:154373262URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding Agencies:HudfondenSwedish Science CouncilSwedish Society for Medical ResearchLeo FoundationALF Medicin StockholmJeanssons StiftelseWallenberg FoundationÅke Wibergs StiftelseThe Swedish Society of MedicineMagnus Bergvalls StiftelseTore Nilssons Stiftelse
  • Hailey-Hailey disease is a rare hereditary skin disease caused by mutations in the ATP2C1 gene encoding the secretory pathway Ca2+/Mn2+-ATPase 1 (SPCA1) protein. Extracutaneous manifestations of Hailey-Hailey disease are plausible but still largely unknown. The aim of this study was to explore the association between Hailey-Hailey disease and diabetes. A population-based cohort study of 347 individuals with Hailey-Hailey  disease was performed to assess the risks of type 1  diabetes and type 2 diabetes, using Swedish nationwide registries. Pedigrees from 2 Swedish families with Hailey-Hailey disease were also investigated: 1 with concurrent type 1 diabetes and HLA-DQ3, the other with type 2 diabetes. Lastly, a clinical cohort with 23 individuals with Hailey-Hailey disease and matched healthy controls was evaluated regarding diabetes. In the register data males with Hailey-Hailey disease had a 70% elevated risk of type 2 diabetes, whereas no  excess risk among women could be confirmed. In both pedigrees an unusually high inheritance for diabetes was observed. In the clinical cohort, individuals with Hailey-Hailey disease displayed a metabolic phenotype indicative of type 2 diabetes. Hailey-Hailey disease seems to act as a synergistic risk factor for diabetes. This study indicates, for the first time, an association between Hailey-Hailey disease and diabetes and represents human evidence that SPCA1 and the Golgi apparatus may be implicated in diabetes pathophysiology.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Jebril, WilliamDermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Evans-Molina, CarmellaIndiana University School of Medicine, Indianapolis, IN, USA; Roudebush VA Medical Center, Indianapolis, IN, USA (författare)
  • Bachar-Wikstrom, EttyKarolinska Institutet (författare)
  • Larsson, HenrikDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (författare)
  • Martin, Cederlöf,1980-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden(Swepub:oru)mncf (författare)
  • Wikström, Jakob D.Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Karolinska InstitutetDermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Acta Dermato-Venereologica: Medical Journals Sweden1030001-55551651-2057

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