Thorough Investigation of a Canine Autoinflammatory Disease (AID) Confirms One Main Risk Locus and Suggests a Modifier Locus for Amyloidosis

M. Olsson, L. Tintle, M. Kierczak, M. Perloski, N. Tonomura, A. Lundquist, E. Murén, M. Fels, K. Tengvall, G. Pielberg, C. Dufaure de Citres, L. Dorso, J. Abadie, J. Hanson, A. Thomas, P.A.J. Leegwater, A. Hedhammar, K. Lindblad-Toh, J.R. Meadows

    Research output: Contribution to journalArticleAcademicpeer-review

    Abstract

    Abstract Autoinflammatory disease (AID) manifests from the dysregulation of the innate immune system and is characterised by systemic and persistent inflammation. Clinical heterogeneity leads to patients presenting with one or a spectrum of phenotypic signs, leading to difficult diagnoses in the absence of a clear genetic cause. We used separate genome-wide SNP analyses to investigate five signs of AID (recurrent fever, arthritis, breed specific secondary dermatitis, otitis and systemic reactive amyloidosis) in a canine comparative model, the pure bred Chinese Shar-Pei. Analysis of 255 DNA samples revealed a shared locus on chromosome 13 spanning two peaks of association. A three-marker haplotype based on the most significant SNP (p
    Original languageEnglish
    Pages (from-to)e75242
    Number of pages1
    JournalPLoS One
    Volume8
    Issue number10
    DOIs
    Publication statusPublished - 2013

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