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Shar-Pei dogs’ genetics tell us about inflammation

2013-10-10

An international collaboration has revealed that one common genetic risk factor predisposes the Shar-Pei dog breed not only to recurrent fever, but also to a spectrum of persistent inflammatory signs that affect the skin, joints, ears and body as a whole. The study is published today in the open access journal PLOS One.

By studying the genetics of these manifestations, the team led by scientists at Uppsala University and the Broad Institute, have been able to show that the breed is predisposed, not to a raft of ailments, but to a syndrome, Shar-Pei Autoinflammatory Disease (SPAID).

Previously the group had demonstrated that a mutation causing the thickened and wrinkled skin of Shar-Pei dogs is linked to periodic fever disorder. In the current investigation, researchers were able to also examine arthritis, otitis, breed specific dermatitis and amyloidosis.

The group employed the same successful methodology they had used previously: to compare the genomes of individuals affected and not affected by the trait of interest. Each health trait was shown to co-locate to the same genomic region, implicating a shared genetic risk factor for all signs of inflammation or more specifically, a single genetic locus for SPAID.

Jennifer Meadows, senior author of the study, notes that treating each trait as a single entity was one of the strengths of the analysis. The researchers realized early on that SPAID was a complicated disease with numerous symptoms, but were truly excited to find a second genomic region which was only associated with amyloidosis.

“This signal was masked when we combined all the inflammatory signs in one analysis”, she said.

The researchers have thus shed light on the role of a key mechanism in a broader spectrum of inflammatory disease. The study beautifully demonstrates the complexity of inflammatory syndromes where a key disease contributor gives rise to many different symptoms.

“Yet the study also shows how, by looking at individual symptoms, we can find additional risk factors contributing to those particular aspects of disease,” said Kerstin Lindblad-Toh, Co-Director of SciLifeLab.

“We believe that understanding the separate components of disease will be very important also for human inflammatory syndromes.”