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

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dc.contributor.author Mikkola, Lea
dc.contributor.author Kyöstilä, Kaisa
dc.contributor.author Donner, Jonas
dc.contributor.author Lappalainen, Anu K
dc.contributor.author Hytönen, Marjo K
dc.contributor.author Lohi, Hannes
dc.contributor.author Iivanainen, Antti
dc.date.accessioned 2021-01-24T04:35:53Z
dc.date.available 2021-01-24T04:35:53Z
dc.date.issued 2021-01-21
dc.identifier.citation BMC Genomics. 2021 Jan 21;22(1):68
dc.identifier.uri http://hdl.handle.net/10138/325116
dc.description.abstract Abstract Background Canine 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. Results We 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 Fédération 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. Conclusions Our 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.
dc.publisher BioMed Central
dc.subject Hip dysplasia
dc.subject Dog
dc.subject Canine
dc.subject GWAS
dc.subject Validations study
dc.subject Neddylation
dc.title An across-breed validation study of 46 genetic markers in canine hip dysplasia
dc.date.updated 2021-01-24T04:35:53Z
dc.language.rfc3066 en
dc.rights.holder The Author(s)
dc.type.uri http://purl.org/eprint/entityType/ScholarlyWork
dc.type.uri http://purl.org/eprint/entityType/Expression
dc.type.uri http://purl.org/eprint/type/JournalArticle

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