scholarly journals Genetic markers of canine hip dysplasia

2018 ◽  
Vol 74 (2) ◽  
pp. 6069-2018
Author(s):  
PAULINA KRZEMIŃSKA ◽  
MACIEJ GOGULSKI ◽  
ROMAN ALEKSIEWICZ ◽  
MAREK ŚWITOŃSKI

Canine hip dysplasia is a complex skeletal malformation caused by genetic and environmental factors. The prevalence of hip dysplasia in different canine breeds ranges widely, from 1% (for Whippet and Borzoi) to over 70% (for Bulldog and Pug). These differences indicate the presence of genetic variants predisposing to or preventing this disorder in gene pools of particular breeds. The importance of genetic factors is also confirmed by a high coefficient of heritability (h2) of canine hip dysplasia, which for most breeds oscillates around 0.5 – 0.6. Application of modern genomic methods, that is, mainly genome scanning (based previously on microsatellite markers and currently on SNP microarrays) has led in recent years to the identification of potential genetic markers associated with this disorder. Such studies were carried out mostly in two breeds: Labrador retriever and German shepherd. Some of the markers were found in the vicinity of genes involved in skeletal development. Following these achievements, the use of some markers has been suggested for early risk diagnosis of hip dysplasia. This shows that molecular testing is becoming important for not only monogenic, but also polygenic canine diseases and disorders. Identification of genetic markers associated with predisposition to hip dysplasia offers an opportunity for an early risk evaluation of this disorder (prior to its first signs). Moreover, it facilitates effective breeding selection aimed at eradicating undesirable genetic variants from the gene pool of a given breed..

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Lea Mikkola ◽  
Kaisa Kyöstilä ◽  
Jonas Donner ◽  
Anu K. Lappalainen ◽  
Marjo K. Hytönen ◽  
...  

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.


PLoS ONE ◽  
2012 ◽  
Vol 7 (6) ◽  
pp. e39620 ◽  
Author(s):  
Bethany J. Wilson ◽  
Frank W. Nicholas ◽  
John W. James ◽  
Claire M. Wade ◽  
Imke Tammen ◽  
...  

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e77470 ◽  
Author(s):  
Bethany J. Wilson ◽  
Frank W. Nicholas ◽  
John W. James ◽  
Claire M. Wade ◽  
Peter C. Thomson

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