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  • Olsson, Mia,1978-Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab (author)

Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis

  • Article/chapterEnglish2013

Publisher, publication year, extent ...

  • 2013-10-09
  • Public Library of Science (PLoS),2013
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-183651
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183651URI
  • https://doi.org/10.1371/journal.pone.0075242DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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<2.6x10(-8)) from each analysis showed that one haplotypic pair (H13-11) was present in the majority of AID individuals, implicating this as a shared risk factor for all phenotypes. We also noted that a genetic signature (F-ST) distinguishing the phenotypic extremes of the breed specific Chinese Shar-Pei thick and wrinkled skin, flanked the chromosome 13 AID locus; suggesting that breed development and differentiation has played a parallel role in the genetics of breed fitness. Intriguingly, a potential modifier locus for amyloidosis was revealed on chromosome 14, and an investigation of candidate genes from both this and the chromosome 13 regions revealed significant (p<0.05) renal differential expression in four genes previously implicated in kidney or immune health (AOAH, ELMO1, HAS2 and IL6). These results illustrate that phenotypic heterogeneity need not be a reflection of genetic heterogeneity, and that genetic modifiers of disease could be masked if syndromes were not first considered as individual clinical signs and then as a sum of their component parts.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Tintle, LindaWurtsboro Veterinary Clinic, Wurtsboro, NY, United States of America (author)
  • Kierczak, MarcinComputational Genetics Group, Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden (author)
  • Perloski, MicheleBroad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America (author)
  • Tonomura, NorikoBroad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America (author)
  • Lindquist, Andrew4Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America (author)
  • Murén, EvaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)evmur020 (author)
  • Fels, Max (author)
  • Tengvall, KatarinaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)katst103 (author)
  • Pielberg, GerliUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)gepie020 (author)
  • Dufaure de Citres, CarolineANTAGENE Animal Genetics Laboratory, La Tour de Salvagny (69 Lyon), France. (author)
  • Dorso, LaetitiaLUNAM University, Oniris, AMaROC Unit, Nantes, F-44307, France (author)
  • Abadie, JérômeLUNAM University, Oniris, AMaROC Unit, Nantes, F-44307, France (author)
  • Hanson, JeanetteDepartment of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden. (author)
  • Thomas, AnneANTAGENE Animal Genetics Laboratory, La Tour de Salvagny (69 Lyon), France (author)
  • Leegwater, PeterDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands. (author)
  • Hedhammar, ÅkeDepartment of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden. (author)
  • Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)kerli865 (author)
  • Meadows, Jennifer R. S.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)jenme818 (author)
  • Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)

Related titles

  • In:PLOS ONE: Public Library of Science (PLoS)8:10, s. e75242-1932-6203

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