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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Fältnamn	Indikatorer	Metadata
000		06292naa a2200613 4500
001		oai:DiVA.org:uu-183651
003		SwePub
008		121031s2013 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1836512 URI
024	7	a https://doi.org/10.1371/journal.pone.00752422 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Olsson, Mia,d 1978-u Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)marol736
245	1 0	a Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis
264		c 2013-10-09
264	1	b Public Library of Science (PLoS),c 2013
338		a electronic2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinsk bioteknologix Medicinsk bioteknologi0 (SwePub)304012 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Medical Biotechnologyx Medical Biotechnology0 (SwePub)304012 hsv//eng
653		a autoinflammatory disease (AID)
653		a amyloidosis
653		a canine model
653		a genetic association
653		a Genetics
653		a Genetik
700	1	a Tintle, Lindau Wurtsboro Veterinary Clinic, Wurtsboro, NY, United States of America4 aut
700	1	a Kierczak, Marcinu Computational Genetics Group, Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden4 aut
700	1	a Perloski, Micheleu Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America4 aut
700	1	a Tonomura, Norikou Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America4 aut
700	1	a Lindquist, Andrewu 4Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA, United States of America4 aut
700	1	a Murén, Evau Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)evmur020
700	1	a Fels, Max4 aut
700	1	a Tengvall, Katarinau Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)katst103
700	1	a Pielberg, Gerliu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)gepie020
700	1	a Dufaure de Citres, Carolineu ANTAGENE Animal Genetics Laboratory, La Tour de Salvagny (69 Lyon), France.4 aut
700	1	a Dorso, Laetitiau LUNAM University, Oniris, AMaROC Unit, Nantes, F-44307, France4 aut
700	1	a Abadie, Jérômeu LUNAM University, Oniris, AMaROC Unit, Nantes, F-44307, France4 aut
700	1	a Hanson, Jeanetteu Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.4 aut
700	1	a Thomas, Anneu ANTAGENE Animal Genetics Laboratory, La Tour de Salvagny (69 Lyon), France4 aut
700	1	a Leegwater, Peteru Department of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands.4 aut
700	1	a Hedhammar, Åkeu Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.4 aut
700	1	a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)kerli865
700	1	a Meadows, Jennifer R. S.u Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)jenme818
710	2	a Uppsala universitetb Institutionen för medicinsk biokemi och mikrobiologi4 org
773	0	t PLOS ONEd : Public Library of Science (PLoS)g 8:10, s. e75242-q 8:10<e75242-x 1932-6203
856	4	u https://doi.org/10.1371/journal.pone.0075242y Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:563653/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0075242&type=printable
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183651
856	4 8	u https://doi.org/10.1371/journal.pone.0075242

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