Dataset Information

Prospective evaluation of a patented DNA test for canine hip dysplasia (CHD).

ABSTRACT: Genetic testing has been propagated as a suitable means to specify individual risks for canine hip dysplasia (CHD). However, the current lack of validation of most genetic CHD tests has left dog owners and breeders in the dark about their practical utility. Therefore, the Society for German Shepherd Dogs (Verein für Deutsche Schäferhunde, SV) initiated a prospective study of 935 animals to assess independently the value of a genetic CHD test (European Patent Specification EP 2 123 777 B1) that was developed by Distl et al. (2009) on the basis of the SV animal stock. Dogs were followed-up for 3 years after birth, classified regarding their CHD phenotype using the scheme of the Fédération Cynologique Internationale, and genotyped for the 17 single nucleotide polymorphisms (SNPs) constituting the CHD test in question. Individual SNP genotypes were combined into animal-specific genomic breeding values (GBVs), calculated as the weighted sum of SNP-wise scores as laid down in the patent specification. Logistic regression analysis revealed that, unexpectedly, the odds ratio for CHD decreased, rather than increased, by a factor of 0.98 per unit increase of the GBV. Nevertheless, since this effect was not statistically significant (95% CI: 0.93-1.03), and the area-under-curve of the test was only 0.523, it must be concluded that the genetic test patented by Distl et al. (2009) is unsuitable for individual CHD risk assessment.

SUBMITTER: Manz E

PROVIDER: S-EPMC5542656 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Prospective evaluation of a patented DNA test for canine hip dysplasia (CHD).

Manz Eberhard E Tellhelm Bernd B Krawczak Michael M

PloS one 20170803 8

Genetic testing has been propagated as a suitable means to specify individual risks for canine hip dysplasia (CHD). However, the current lack of validation of most genetic CHD tests has left dog owners and breeders in the dark about their practical utility. Therefore, the Society for German Shepherd Dogs (Verein für Deutsche Schäferhunde, SV) initiated a prospective study of 935 animals to assess independently the value of a genetic CHD test (European Patent Specification EP 2 123 777 B1) that w ...[more]

PMID: 28771576

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Project description:Hip and elbow dysplasia are common disorders in larger dog breeds and crosses, and a known contributory factor to osteoarthritis, lameness and reduced mobility. Screening schemes evaluating the severity of hip and elbow dysplasia in the UK are administered by the British Veterinary Association (BVA) and the Kennel Club (KC). The BVA/KC Hip Dysplasia scoring scheme is over 50 years old, having originated in 1965, and has operated in its current form since 1983. The BVA/KC Elbow Dysplasia grading scheme commenced more recently in 1998 and is based on the International Elbow Working Group guidelines. Hip score and elbow grade data on a considerable number of dogs in the UK have been generated from these two screening schemes. This study analyses data from dogs of six breeds scored from 1990 to present, to establish any determinable trends in hip score and elbow grade parameters, and to examine whether the implementation of such schemes has had a positive influence on hip and elbow health. A range of criteria, including the rate of participation in the screening schemes, hip score and elbow grade parameters (e.g., median, mean, standard deviation), and estimated breeding values (EBVs) were analyzed, both in the overall population and also among breeding animals. The results show a general decline in hip score parameters (median, mean, standard deviation, and 75th percentile), revealing a reduction in the prevalence and severity of hip dysplasia. There was a more modest decline in mean elbow grade within breeds. The proportion of sires and dams (of dogs born per year) with no hip score or elbow grade fell substantially over time, demonstrating good participation in the screening schemes. In most breeds, the scores of sires and dams are demonstrably improving. There is a declining genetic trend as ascertained by EBVs for both hip scores and elbow grades in most breeds, implying that the improvement observed is due in part to selection for improvement in hip and elbow health as described by the respective screening schemes.

Project description:BACKGROUND:Hip dysplasia and osteoarthritis continue to be prevalent problems in veterinary and human medicine. Canine hip dysplasia is particularly problematic as it massively affects several large-sized breeds and can cause a severe impairment of the quality of life. In Finland, the complex condition is categorized to five classes from normal to severe dysplasia, but the categorization includes several sub-traits: congruity of the joint, Norberg angle, subluxation degree of the joint, shape and depth of the acetabulum, and osteoarthritis. Hip dysplasia and osteoarthritis have been proposed to have separate genetic etiologies. RESULTS:Using Fédération Cynologique Internationale -standardized ventrodorsal radiographs, German shepherds were rigorously phenotyped for osteoarthritis, and for joint incongruity by Norberg angle and femoral head center position in relation to dorsal acetabular edge. The affected dogs were categorized into mild, moderate and severe dysplastic phenotypes using official hip scores. Three different genome-wide significant loci were uncovered. The strongest candidate genes for hip joint incongruity were noggin (NOG), a bone and joint developmental gene on chromosome 9, and nanos C2HC-type zinc finger 1 (NANOS1), a regulator of matrix metalloproteinase 14 (MMP14) on chromosome 28. Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity. CONCLUSIONS:Our findings highlight the complexity of canine hip dysplasia phenotypes. In particular, the results of this study point to the potential involvement of specific and partially distinct loci and genes or pathways in the development of incongruity, mild dysplasia, moderate-to-severe dysplasia and osteoarthritis of canine hip joints. Further studies should unravel the unique and common mechanisms for the various sub-traits.

Dataset Information

Prospective evaluation of a patented DNA test for canine hip dysplasia (CHD).

Publications

Prospective evaluation of a patented DNA test for canine hip dysplasia (CHD).

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