An across-breed validation study of 46 genetic markers in canine hip dysplasia

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http://hdl.handle.net/10138/327048

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Mikkola , L , Kyöstilä , K , Donner , J , Lappalainen , A K , Hytönen , M K , Lohi , H & Iivanainen , A 2021 , ' An across-breed validation study of 46 genetic markers in canine hip dysplasia ' , BMC Genomics , vol. 22 , no. 1 , 68 . https://doi.org/10.1186/s12864-021-07375-x

Title: An across-breed validation study of 46 genetic markers in canine hip dysplasia
Author: Mikkola, Lea; Kyöstilä, Kaisa; Donner, Jonas; Lappalainen, Anu K.; Hytönen, Marjo K.; Lohi, Hannes; Iivanainen, Antti
Other contributor: University of Helsinki, Helsinki One Health (HOH)
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Departments of Faculty of Veterinary Medicine
University of Helsinki, Medicum
University of Helsinki, Helsinki One Health (HOH)
University of Helsinki, Veterinary Biosciences












Date: 2021-01-21
Language: eng
Number of pages: 11
Belongs to series: BMC Genomics
ISSN: 1471-2164
DOI: https://doi.org/10.1186/s12864-021-07375-x
URI: http://hdl.handle.net/10138/327048
Abstract: BackgroundCanine hip dysplasia (CHD) is a common disease, with a complex genetic background. Dogs with severe CHD sometimes also suffer from osteoarthritis (OA), an inflammatory, often painful and incurable condition. Previous studies have reported breed-specific genetic loci associated with different hip dysplasia and OA phenotypes. However, the independent replication of the known associations within or across breeds has been difficult due to variable phenotype measures, inadequate sample sizes and the existence of population specific variants.ResultsWe execute a validation study of 46 genetic markers in a cohort of nearly 1600 dogs from ten different breeds. We categorize the dogs into cases and controls according to the hip scoring system defined by the Federation Cynologique Internationale (FCI). We validate 21 different loci associated on fourteen chromosomes. Twenty of these associated with CHD in specific breeds, whereas one locus is unique to the across-breed study. We show that genes involved in the neddylation pathway are enriched among the genes in the validated loci. Neddylation contributes to many cellular functions including inflammation.ConclusionsOur study successfully replicates many loci and highlights the complex genetic architecture of CHD. Further characterisation of the associated loci could reveal CHD-relevant genes and pathways for improved understanding of the disease pathogenesis.
Subject: Hip dysplasia
Dog
Canine
GWAS
Validations study
Neddylation
413 Veterinary science
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