Search: WFRF:(Jebril William) >
Hailey-Hailey Disea...
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Curman, PhilipKarolinska Institutet
(author)
Hailey-Hailey Disease is Associated with Diabetes : A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis
- Article/chapterEnglish2023
Publisher, publication year, extent ...
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Medical Journals Sweden,2023
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:oru-109935
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https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-109935URI
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https://doi.org/10.2340/actadv.v103.10436DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:154373262URI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Funding Agencies:HudfondenSwedish Science CouncilSwedish Society for Medical ResearchLeo FoundationALF Medicin StockholmJeanssons StiftelseWallenberg FoundationÅke Wibergs StiftelseThe Swedish Society of MedicineMagnus Bergvalls StiftelseTore Nilssons Stiftelse
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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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Jebril, WilliamDermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden
(author)
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Evans-Molina, CarmellaIndiana University School of Medicine, Indianapolis, IN, USA; Roudebush VA Medical Center, Indianapolis, IN, USA
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Bachar-Wikstrom, EttyKarolinska Institutet
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Larsson, HenrikDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
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Martin, Cederlöf,1980-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden(Swepub:oru)mncf
(author)
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Wikström, Jakob D.Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Stockholm, Sweden
(author)
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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)
Related titles
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In:Acta Dermato-Venereologica: Medical Journals Sweden1030001-55551651-2057
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