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Hailey-Hailey Disea...
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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 ...
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Medical Journals Sweden,2023
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printrdacarrier
Nummerbeteckningar
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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
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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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.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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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
(författare)
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Evans-Molina, CarmellaIndiana University School of Medicine, Indianapolis, IN, USA; Roudebush VA Medical Center, Indianapolis, IN, USA
(författare)
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Bachar-Wikstrom, EttyKarolinska Institutet
(författare)
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Larsson, HenrikKarolinska Institutet
(författare)
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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
(författare)
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Wikström, Jakob D.Karolinska Institutet
(författare)
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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)
Sammanhörande titlar
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Ingår i:Acta Dermato-Venereologica: Medical Journals Sweden1030001-55551651-2057
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