Disease-associated gene variants widespread across dog breeds

Published on
information-circle This article is more than 3 years old

Genetic panel testing has found that mutations or markers associated with disorders in certain dog breeds also occur in other breeds, according to a recent study.

On Aug. 15, 2016, PLOS One, a multidisciplinary online journal of the Public Library of Science, published “Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders.”

Researchers primarily from Genoscoper Laboratories of Finland and the University of Helsinki tested nearly 7,000 dogs representing about 230 breeds for 93 disease-associated variants, using Genoscoper’s MyDogDNA panel test. Genoscoper markets the test to consumers in Europe. In the United States, Mars Veterinary, maker of the Wisdom Panel breed identification test, has incorporated the MyDogDNA test into the Optimal Selection product for dog breeders and into products available through Mars Petcare subsidiaries Banfield Pet Hospital and Royal Canin.

The researchers write in the study abstract: “In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance.” Among other findings, the researchers report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia.

Jonas Donner, PhD, is one of the lead authors of the study and the head of research and development at Genoscoper Laboratories. He told JAVMA News that the researchers “hypothesized that most mutations would lead to similar disease signs in the additional breeds we discovered them in.” They confirmed the hypothesis for six of the seven mutations they followed up on, all except the variant associated with multifocal retinopathy.

“We believe that our study has provided evidence for the utility of comprehensive screening for inherited disorders across the dog community,” Dr. Donner said. “Increased awareness of the common and widespread occurrence of genetic variants predisposing to disease is needed.”

He continued, “We need adaptation on the part of multiple stakeholders and organizations to best achieve demystification of genetic information and to ensure accurate genetic counseling on what a genetic test result means and does not mean for the individual dog and its breed. We believe that this goal is best achieved by an interaction on multiple levels: testing laboratories assuming responsibility for the accuracy of the DNA test, veterinary clinicians providing health care and recommending appropriate treatment options, breed clubs providing general and specific breeding advice under the umbrella of national kennel clubs, and researchers providing thought leadership and guidance grounded on valid scientific results rather than opinions.”

The study is available here.   


Study identifies common and breed-specific illnesses in cats

The most common health issues in cats have to do with the mouth, according to a recent study out of the University of Helsinki. The research group also identified nearly 60 illnesses specific to particular breeds.

The study, “Health and behavioral survey of over 8000 Finnish cats,” appeared Aug. 29, 2016, in the online journal Frontiers in Veterinary Science.

Among all cats, the category of disease with the highest prevalence was dental and oral diseases, at 28 percent. The most common conditions were dental calculus and gingivitis, at 21 percent and 8 percent respectively. Other disease categories with a high prevalence included skin disorders, 12 percent; urinary tract disorders, 12 percent; digestive tract disorders, 11 percent; ocular disorders, 10 percent; musculoskeletal disorders, 10 percent; and disorders of the genitals in female cats, 17 percent.

Although the researchers identified nearly 60 breed-specific diseases, only six of the diseases have known associated genetic mutations. Among other findings, the study revealed the prevalence of asthma among Korats and a renal disease in Ragdolls.

The study also provides preliminary information on cat behavior and differences among breeds. For example, British Shorthairs are calmer than many other breeds, while Turkish Vans and Bengals are more active and aggressive.

The study is available here.   

Related JAVMA content: