Novel Genetic Variants Discovered in Two Studies of Inherited Disease in Finnish Dog Breeds

Researchers identify two new genetic variants associated with endocrine dysfunction and eye disease in dogs, providing models for future research in humans

VANCOUVER, Wash.--()--Wisdom Health Genetics, the world leader in pet genetics and maker of the WISDOM PANEL™ dog DNA test, announced the publication of two studies in Human Genetics conducted in partnership with the University of Helsinki.

Both studies discovered genetic variants related to disease in dog breeds of Finnish origin: the first study identifies a variant associated with an endocrine disease in Karelian Bear Dogs, and the second identifies a variant associated with an eye disease in Lapponian Herders.

“By analyzing genetic samples including those from the Wisdom Health Genetics database, our researchers and Professor Hannes Lohi’s team at the University of Helsinki were able to identify genetic variants associated with two inherited diseases found in Finnish dog breeds,” said Jonas Donner, Ph.D., Discovery Manager at Wisdom Health Genetics. “We are thrilled that we could aid in these discoveries, both of which have practical implications for humans and dogs. These findings will inform the development of genetic tests for the conditions, thus improving veterinary diagnostics and breeding plans, and also help further our understanding of similar conditions in humans.”

The first study, Intronic variant in POU1F1 associated with canine pituitary dwarfism, established a novel canine model for endocrine dysfunction known as combined pituitary hormone deficiency (CPHD). Through a combination of genome-wide association and next-generation sequencing studies, researchers identified a candidate gene (POU1F1) containing a disease-predisposing genetic variant present in the dogs with CPHD.

“Thirty genes, many of which are regulatory genes affecting pituitary development, have been linked to human hereditary hypopituitarism. Impairment occurs not only in humans but also in mice and dogs. This is only the second and thus very important new dog model for human pituitary disease,” said Professor Lohi about the discovery in the University’s news release about the CPHD publication.

In a second study, A missense variant in IFT122 associated with a canine model of retinitis pigmentosa, researchers identified a recessive genetic variant (IFT122) as the likely cause of progressive retinal atrophy (PRA) in Lapponian Herders. The IFT122 gene has not previously been linked to retinal degeneration in mammals, thus establishing a new model to examine the role of IFT122 in degenerative eye diseases in both humans and dogs alike.

“Gene discovery is important because genetic testing can now easily distinguish retinal degenerations associated with different genes in breeds, which is important for disease monitoring, prognosis, and the development of new therapies,” said Maria Kaukonen, DVM, in the University’s news release announcing the PRA publication. “Diagnostics will improve and it will make the work of veterinarians easier.”

The discoveries of both studies will contribute to the development of targeted genetic screening for dogs like those found in Wisdom Panel™ tests to improve breeding practices and personalized veterinary care.

Additionally, both discoveries hold promise for advancing human medicine thanks to the novel clues about disease gene biology they provide, and the newly characterized canine models enabling further studies of the conditions.

About the combined pituitary hormone deficiency (CPHD) study:

  • Combined pituitary hormone deficiency (CPHD) is a condition caused by abnormal development or dysfunction of the pituitary gland, affecting growth hormones and reproduction. To date, researchers have found at least 30 genes associated with CPHD in humans, including POU1F1. CPHD also occurs in mice and dogs.
  • At least two dog breeds are affected by CPHD; German Shepherd CPHD is caused by a genetic defect in the LHX3 gene, and the disease in Karelian Bear Dogs (KBDs) has a hitherto unknown genetic cause.
  • Researchers analyzed genetic samples from five KBDs who presented dwarfism and had abnormal coats using genome-wide association and next-generation sequencing, identifying an intronic—or non-coding—variant in the POU1F1 gene in dogs affected by CPHD. This study analyzed samples from 8,000 dogs across 207 breeds and found a carrier frequency of 8% in KBDs.

About the canine model of retinitis pigmentosa (RP) study:

  • Retinitis pigmentosa (RP) is an eye disease affecting millions of people globally, nearly two million people worldwide; a similar disease, progressive retinal atrophy (PRA), is found in dogs though the genetic causes of the disease are heterogeneous and not yet fully understood.
  • In this study, researchers used a genome-wide association study and whole-genome sequencing to examine the condition in Lapponian Herders, a breed affected by several inherited retinal diseases. They found a variant in the IFT122 gene in both Lapponian Herders and Finnish Lapphunds not previously linked to retinal degeneration in mammals, establishing a new model for the study of IFT122 related to eye disease biology.

About Wisdom Health Genetics

The mission of the Wisdom Health business, a division of Kinship Partners, Inc, is to strengthen the bond between pets and their people through world-leading insights powered by DNA. Wisdom Panel™ dog DNA tests—backed by WISDOM HEALTH™ scientific research—can help pet parents plan better, care smarter, and love longer. For more than a decade, Wisdom Health™ scientific research has contributed to state-of-the-art genetic tests for companion animals, revolutionizing personalized pet care. By unlocking the secrets of their dog or cat's DNA, pet parents and veterinarians can work together to tailor wellness programs that fit the one-of-a-kind needs of their pets. More than 7,000 veterinarians worldwide recommend and offer Wisdom Panel™ products. For more information, visit, and follow the Wisdom Panel™ brand on Facebook and Instagram.

About Kinship Partners, Inc

Kinship is here to help everyone pet parent like a pro. Why? Because our pets make us better humans, and we owe them the best possible care. As allies to pet parents learning on the job, we use our data, products, and services to help people be the best pet parents they can be. We unite changemakers in pet care to break down barriers, open new doors, share insights, and advance our collective knowledge. By reimagining the pet parenting experience and upping people’s confidence, we’re helping the world find better ways to care.

Our coalition includes our world-leading Wisdom Panel™ genetic health screening and DNA testing for dogs, the award-winning WHISTLE™ GPS dog tracker and health monitor, Pet Insight Project, our ground-breaking science stream that uses AI to turn billions of data points into actionable insights, and partnerships like our Leap Venture Studio accelerator that supports innovators and start-ups, to bring new solutions to pet parents. Kinship is a division of Mars Petcare. Learn more at

About Mars Petcare

Part of Mars, Incorporated—a family-owned business with more than a century of history-making diverse products and offering services for people and the pets people love—the 85,000 Associates across 50+ countries in Mars Petcare are dedicated to one purpose: A BETTER WORLD FOR PETS. With 85 years of experience, our portfolio of almost 50 brands serves the health and nutrition needs of the world’s pets—including brands PEDIGREE®, WHISKAS®, ROYAL CANIN®, NUTRO™, GREENIES™, SHEBA®, CESAR®, IAMS™, and EUKANUBA™, as well as the Waltham Petcare Science Institute, which has advanced research in the nutrition and health of pets for over 50 years. Mars Petcare is also a leading veterinary health provider through an international network of over 2,000 pet hospitals and diagnostic services including BANFIELD™, BLUEPEARL™, VCA™, Linnaeus, AniCura, and Antech. We’re also active in innovation and technology for pets, with Wisdom Panel™ genetic health screening and DNA testing for dogs, the WHISTLE™ GPS dog tracker, LEAP VENTURE STUDIO accelerator, and COMPANION FUND programs that drive innovation and disruption in the pet care industry. As a family business guided by our principles, we are privileged with the flexibility to fight for what we believe in—and we choose to fight for our purpose: A BETTER WORLD FOR PETS.


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Lesley Albert