Journal of Thyroid Disorders & Therapy
Open Access
ISSN: 2167-7948
ISSN: 2167-7948
Matteo Bianchi and Gerli Rosengren Pielberg
Uppsala University, Sweden
Posters & Accepted Abstracts: Thyroid Disorders Ther
The domestic dog is not only man��?s best friend and accompanying animal in our daily life, but also in the long-term challenge of unraveling the genetics behind complex diseases. Besides living in the same environment as we do, dogs may spontaneously develop several diseases that are analogous to those affecting humans. In addition to these peculiar features, dogs��? unique genome structure and the respective availability of valuable genomic and molecular tools for its analysis overall facilitate the identification of disease-causing genes. We have studied a common endocrine disease affecting both humans and dogs��? hypoThyroidism, which in the latter has in most cases an autoimmune etiology. Here we present a multi-breed analysis of genetic risk factors predisposing to hypoThyroidism in dogs belonging to three high-risk breeds - the Gordon setter, Hovawart and the Rhodesian ridgeback. Using an integrated genome-wide association and meta-analysis strategy, we identified the presence of a major hypoThyroidism risk locus shared by these breeds on chromosome 12 (p=2.1x10-11). Additional characterization of the candidate region revealed a shared ~167 kb risk haplotype being significantly enriched across the affected dogs (p<0.001). The identified haplotype harbors three genes that have not previously been associated with hypoThyroidism, thus representing interesting targets for the discovery of novel disease pathways and mechanisms. This study is of utmost importance for the improvement of hypoThyroid dogs��? health and it may also help to enlarge our knowledge regarding the genetics of the human counterpart of this disease and searching for its missing heritability.
Email: Matteo.Bianchi@imbim.uu.se