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Research article - Peer-reviewed, 2012

Mapping QTL affecting a systemic sclerosis-like disorder in a cross between UCD-200 and red jungle fowl chickens

Ek, Weronica; Sahlqvist, Anna-Stina; Crooks, Lucy; Sgonc, Roswitha; Dietrich, Hermann; Wick, Georg; Ekwall, Olov; Andersson, Leif; Carlborg, Örjan; Olle, Kämpe; Kerje, Susanne


Systemic sclerosis (SSc) or scleroderma is a rare, autoimmune, multi-factorial disease characterized byearly microvascular alterations, inflammation, and fibrosis. Chickens from the UCD-200 line develop ahereditary SSc-like disease, showing all the hallmarks of the human disorder, which makes this line apromising model to study genetic factors underlying the disease. A backcross was generated betweenUCD-200 chickens and its wild ancestor - the red jungle fowl and a genome-scan was performed toidentify loci affecting early (21 days of age) and late (175 days of age) ischemic lesions of the comb. Asignificant difference in frequency of disease was observed between sexes in the BC population, wherethe homogametic males were more affected than females, and there was evidence for a protective Wchromosome effect. Three suggestive disease predisposing loci were mapped to chromosomes 2, 12and 14. Three orthologues of genes implicated in human SSc are located in the QTL region on chromosome2, TGFRB1, EXOC2-IRF4 and COL1A2, as well as CCR8, which is more generally related to immunefunction. IGFBP3 is also located within the QTL on chromosome 2 and earlier studies have showedincreased IGFBP3 serum levels in SSc patients. To our knowledge, this study is the first to reveal a potentialgenetic association between IGFBP3 and SSc. Another gene with an immunological function, SOCS1, islocated in the QTL region on chromosome 14. These results illustrate the usefulness of the UCD-200chicken as a model of human SSc and motivate further in-depth functional studies of the implicatedcandidate genes.

Published in

Developmental and Comparative Immunology
2012, volume: 38, number: 2, pages: 352-359

Authors' information

Ek, Weronica
Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics
Sahlqvist, Anna-Stina
Crooks, Lucy
Uppsala University
Sgonc, Roswitha
Medical University of Innsbruck
Dietrich, Hermann
Medical University of Innsbruck
Wick, Georg
Medical University of Innsbruck
Ekwall, Olov
Andersson, Leif
Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics
Carlborg, Örjan
Swedish University of Agricultural Sciences, Department of Clinical Sciences
Olle, Kämpe
Kerje, Susanne

UKÄ Subject classification

Genetics and Breeding

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