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Genetic variations of NLRP1: susceptibility in psoriasis
Linköping University, Department of Clinical and Experimental Medicine, Division of Inflammation Medicine. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Heart and Medicine Center, Department of Dermatology and Venerology. (Ingrid Asp Psoriasis Research Center)
Linköping University, Faculty of Health Sciences. Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. (Ingrid Asp Psoriasis Research Center)
Linköping University, Department of Clinical and Experimental Medicine, Division of Inflammation Medicine. Linköping University, Faculty of Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Inflammation Medicine. Linköping University, Faculty of Health Sciences. (Ingrid Asp Psoriasis Research Center)
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2014 (English)In: British Journal of Dermatology, ISSN 0007-0963, E-ISSN 1365-2133, Vol. 171, no 6, 1517-1520 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: NACHT, LRR and PYD domain-containing protein (NLRP)1 is part of the inflammasome multiprotein complex involved in the production of interleukin (IL)-1β and IL-18, two cytokines strongly implicated in psoriasis pathogenesis. Genetic variations in NLRP1 are associated with a predisposition for chronic inflammatory conditions.

OBJECTIVES: The aim of the study was to investigate the role of genetic variation in the NLRP1 inflammasome in psoriasis susceptibility.

MATERIAL AND METHODS: Four haplotype-tagging single-nucleotide polymorphisms (SNPs) (rs6502867, rs8079034, rs878329 and rs12150220) were investigated by TaqMan allelic discrimination in a patient sample comprising 1847 individuals from 478 families and 802 healthy controls.

RESULTS: Using the transmission disequilibrium test, a significant increase in the transmission of the NLRP1 rs8079034C and rs878329C alleles to patients with psoriasis was demonstrated (P = 0·006 and P = 0·033, respectively). Furthermore, homozygosity for the rs878329C allele correlated with a younger age of onset. We also observed an increase in the expression of NLRP1 mRNA in the peripheral blood cells of patients with psoriasis. This was accompanied by a higher level of circulating IL-18 and appeared to be associated with the rs878329C allele.

CONCLUSIONS: Our data support the involvement of NLRP1 and the NLRP1 inflammasome in psoriasis susceptibility and further support the role of innate immunity in psoriasis.

Place, publisher, year, edition, pages
Wiley-Blackwell, 2014. Vol. 171, no 6, 1517-1520 p.
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Clinical Medicine Basic Medicine
Identifiers
URN: urn:nbn:se:liu:diva-112730DOI: 10.1111/bjd.13178ISI: 000347236100197PubMedID: 24909542OAI: oai:DiVA.org:liu-112730DiVA: diva2:770335
Note

The study was funded by the Ingrid Asp foundation, the Welander Foundation and the Swedish Psoriasis Association.

Available from: 2014-12-10 Created: 2014-12-10 Last updated: 2017-12-05Bibliographically approved

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Ekman, Anna-KarinVerma, DeeptiFredrikson, MatsBivik, CeciliaEnerbäck, Charlotta

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Ekman, Anna-KarinVerma, DeeptiFredrikson, MatsBivik, CeciliaEnerbäck, Charlotta
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Division of Inflammation MedicineFaculty of Health SciencesDepartment of Dermatology and VenerologyDivision of Microbiology and Molecular Medicine
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