Abstract

Canine domestication and breed creation have shaped a genome with a structure advantageous for genetic disease mapping. Within a dog breed, linkage disequilibrium (LD) is extensive and haplotype blocks with no recombination are long (0.5-1 mega bases), while between breeds LD and haplotype blocks are short (~10 kilo bases). Genetic diseases are common among different dog breeds and several such diseases are breed-specific. Therefore, genetic risk factors are more easily identified. Moreover, dogs and humans share the majority of their genes as well as common environment and similar diseases affect both species. Identification of causative and risk variants for canine genetic disease requires fewer markers and fewer individuals compared with humans and it may result in improved diagnostic settings and treatment options in both dogs and humans. In several genome-wide association studies (GWAS) conducted at the Swedish University of Agricultural Sciences, genetic risk factors underlying both monogenic Mendelian traits (e.g. the white coat color in Boxers and the ridge phenotype in Rhodesian Ridgebacks) and complex diseases in dogs (e.g. Systemic Lupus Erythematosus (SLE)-related disease in Nova Scotia duck tolling retriever and Atopic Dermatitis (AD) in German shepherds) have been successfully identified. The principles for disease-mapping procedures and advantages and challenges of GWAS, and how such results can be applied will be discussed. Dilated Cardiomyopathy (DCM) in the high-risk Great Dane and New Foundland breeds will be discussed as examples. DCM is one of the most prevalent and the most heterogeneous cardiomyopathies in both humans and large-sized dog breeds. The disease is characterized by dilation, enlargement and weakened contraction of the left ventricular cardiac chamber. In later disease states all four chambers may be affected, often leading to development of congestive heart failure. GWAS have been performed using clinically well-defined case-control populations, mapped using a high density 173.000 Single Nucleotide Polymorphism (SNP) Illumina array and analyzed with PLINK and GenABEL softwares.

Published in

Title: 8th International Working Dog Conference
Publisher: IWDBA

Conference

8th International Working Dog Conference

SLU Authors

• Stjelja Arvelius, Suzana

  • Department of Animal Biosciences, Swedish University of Agricultural Sciences
    

• Andersson, Göran

  • Department of Animal Biosciences, Swedish University of Agricultural Sciences
    

UKÄ Subject classification

Genetics and Breeding


Permanent link to this page (URI)

https://res.slu.se/id/publ/51677