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Hailey-Hailey Disease is Associated with Diabetes: A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis
Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden.
Indiana University School of Medicine, Indianapolis, IN, USA; Roudebush VA Medical Center, Indianapolis, IN, USA.
Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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2023 (English)In: Acta Dermato-Venereologica, ISSN 0001-5555, E-ISSN 1651-2057, Vol. 103, article id adv10436Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Medical Journals Sweden, 2023. Vol. 103, article id adv10436
Keywords [en]
Hailey-Hailey disease, diabetes, SPCA1, human leukocyte antigen, pedigree, cohort study
National Category
Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:oru:diva-109935DOI: 10.2340/actadv.v103.10436ISI: 001113267500001PubMedID: 38014829Scopus ID: 2-s2.0-85178076464OAI: oai:DiVA.org:oru-109935DiVA, id: diva2:1815477
Funder
Insamlingsstiftelsen HudFondenSwedish Research CouncilSwedish Society for Medical Research (SSMF)Wallenberg FoundationsÅke Wiberg FoundationSwedish Society of MedicineMagnus Bergvall FoundationTore Nilsons Stiftelse för medicinsk forskning
Note

Funding Agencies:

Hudfonden

Swedish Science Council

Swedish Society for Medical Research

Leo Foundation

ALF Medicin Stockholm

Jeanssons Stiftelse

Wallenberg Foundation

Åke Wibergs Stiftelse

The Swedish Society of Medicine

Magnus Bergvalls Stiftelse

Tore Nilssons Stiftelse

Available from: 2023-11-29 Created: 2023-11-29 Last updated: 2024-01-09Bibliographically approved

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