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Thorough investigat...
Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis
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- Olsson, Mia, 1978- (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Tintle, Linda (author)
- Wurtsboro Veterinary Clinic, Wurtsboro, NY, United States of America
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- Kierczak, Marcin (author)
- Computational Genetics Group, Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden
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- Perloski, Michele (author)
- Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America
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- Tonomura, Noriko (author)
- Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America
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- Lindquist, Andrew (author)
- 4Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America
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- Murén, Eva (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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Fels, Max (author)
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- Tengvall, Katarina (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Pielberg, Gerli (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Dufaure de Citres, Caroline (author)
- ANTAGENE Animal Genetics Laboratory, La Tour de Salvagny (69 Lyon), France.
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- Dorso, Laetitia (author)
- LUNAM University, Oniris, AMaROC Unit, Nantes, F-44307, France
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- Abadie, Jérôme (author)
- LUNAM University, Oniris, AMaROC Unit, Nantes, F-44307, France
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- Hanson, Jeanette (author)
- Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
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- Thomas, Anne (author)
- ANTAGENE Animal Genetics Laboratory, La Tour de Salvagny (69 Lyon), France
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- Leegwater, Peter (author)
- Department of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands.
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- Hedhammar, Åke (author)
- Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
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- Lindblad-Toh, Kerstin (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Meadows, Jennifer R. S. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- 2013-10-09
- 2013
- English.
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In: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:10, s. e75242-
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Abstract
Subject headings
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- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
Keyword
- autoinflammatory disease (AID)
- amyloidosis
- canine model
- genetic association
- Genetics
- Genetik
Publication and Content Type
- ref (subject category)
- art (subject category)
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Olsson, Mia, 197 ...
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Tintle, Linda
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Kierczak, Marcin
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Perloski, Michel ...
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Tonomura, Noriko
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Lindquist, Andre ...
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Murén, Eva
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Fels, Max
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Tengvall, Katari ...
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Pielberg, Gerli
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Dufaure de Citre ...
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Dorso, Laetitia
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Abadie, Jérôme
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Hanson, Jeanette
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Thomas, Anne
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Leegwater, Peter
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Hedhammar, Åke
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Lindblad-Toh, Ke ...
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Meadows, Jennife ...
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