Bilateral juvenile osteochondrosis dissecans in monozygotic twins: a case report.

INTRODUCTION: The etiology of osteochondrosis dissecans (OCD), a chondropathy associated with detachment of the subchondral bone and the overlaying cartilage, is not yet fully understood. While repetitive physical exercise-related stress is usually assumed to be the main risk factor for the occurrence of OCD, genetic predisposition could have an underestimated influence on the development of the disease. CASE REPORT: We report a case of monozygotic twins with almost identical stages of bilateral osteochondrosis dissecans of the knee joint. In both patients, initially, a unilateral lesion occurred; despite restricted physical exercise, in the further course of the disease a lesion also developed on the contralateral side. While the lesion found most recently demonstrated an ongoing healing process at a 6-month follow-up, the other three lesions showed a natural course of healing under conservative treatment with significant clinical as well as radiological improvements after one year and complete consolidation in magnetic resonance imaging (MRI) after 2 years. CONCLUSION: There could be a genetic component to the development of OCD, although this has not yet been proven. Based on a two-year MRI follow-up, we were able to show the self-limiting characteristics of juvenile osteochondrosis dissecans.

Genome-Wide Association Analyses of Osteochondrosis in Belgian Warmbloods Reveal Candidate Genes Associated With Chondrocyte Development.

Osteochondrosis (OC) is an important skeletal disease causing profound welfare concerns in horses. Although numerous studies have explored the genetics underlying OC in various breeds, the Belgian Warmblood (BW) remains unstudied despite having a concerning prevalence of 32.0%. As a result, this study aimed to conduct genome-wide association (GWA) analyses to identify candidate variants associated with OC in BWs. To achieve this, blood samples and radiographs were collected from 407 Belgian Warmbloods registered to one of two BW studbooks (Belgisch Warmbloedpaard and Zangersheide), and genotyping was performed using the 670K Axiom Equine Genotyping Array. GWA analyses using a principle component approach were then performed on OC status (OCS; presence or absence of OC at any joint), hock OC status (HOC) and stifle OC status (SOC). These analyses yielded significantly associated (P < .01) SNPs on Equus caballus chromosome (ECA) 3, ECA 12, and ECA 18 for OCS; however, no single nucleotide polymorphisms (SNPs) reached significance for HOC or SOC. Subsequent analysis of candidate genes within 500 kilobases of the significant SNPs revealed functions broadly related to cell differentiation and chondrocyte development. While this study represents another step forward in uncovering variants and biological pathways associated with OC, additional studies are needed to validate the newly identified candidate SNPs for OC in BWs. Further studies of OC in BWs, as well as other breeds, are critical in our efforts to fully understand the disease's etiopathogenesis and ultimately provide breeding programs better equipped to improve horse health and well-being.

Osteochondral repair combining therapeutics implant with mesenchymal stem cells spheroids.

Functional articular cartilage regeneration remains challenging, and it is essential to restore focal osteochondral defects and prevent secondary osteoarthritis. Combining autologous stem cells with therapeutic medical device, we developed a bi-compartmented implant that could promote both articular cartilage and subchondral bone regeneration. The first compartment based on therapeutic collagen associated with bone morphogenetic protein 2, provides structural support and promotes subchondral bone regeneration. The second compartment contains bone marrow-derived mesenchymal stem cell spheroids to support the regeneration of the articular cartilage. Six-month post-implantation, the regenerated articular cartilage surface was 3 times larger than that of untreated animals, and the regeneration of the osteochondral tissue occurred during the formation of hyaline-like cartilage. Our results demonstrate the positive impact of this combined advanced therapy medicinal product, meeting the needs of promising osteochondral regeneration in critical size articular defects in a large animal model combining not only therapeutic implant but also stem cells.

Genetics of Equine Orthopedic Disease.

Orthopedic diseases are a common cause for limited exercise capacity in the horse. They often underlie genetic risk factors, which can affect bone, articular cartilage, tendons, ligaments, and adnexal structures among others. The genetic effects can directly interfere with tissue development and skeletal growth or can trigger degenerative or inflammatory processes. Many of these diseases of the locomotor system like osteochondrosis are complex and can be affected by multifactorial influences. For this reason, it is important for those performing diagnostic procedures to have a comprehensive knowledge of orthopedic diseases, their prevalence within breeds, and genetic background.

SNP-based heritability and genetic architecture of tarsal osteochondrosis in North American Standardbred horses.

Osteochondrosis is a common developmental orthopedic disease characterized by a failure of endochondral ossification. Standardbred horses are recognized as being predisposed to tarsal osteochondrosis. Prior heritability estimates for tarsal osteochondrosis in European Standardbreds and related trotting breeds have been based on pedigree data and range from 17-29%. Here, we report on genetic architecture and heritability based on high-density genotyping data in a cohort of North American Standardbreds (n = 479) stringently phenotyped for tarsal osteochondrosis. Whole-genome array genotyping data were imputed to ~2 million single nucleotide polymorphisms (SNPs). SNP-based heritability of osteochondrosis in this population was explained by 2326 SNPs. The majority of these SNPs (86.6%) had small effects, whereas fewer SNPs had moderate or large effects (10% and 2.9% respectively), which is consistent with a polygenic/complex disease. Heritability was estimated at 0.24 ± 0.16 using two methods of restricted maximum likelihood analysis, as implemented in gcta (with and without a weighted relatedness matrix) and ldak software. Estimates were validated using bootstrapping. Heritability estimates were within the range previously reported and suggest that osteochondrosis is moderately heritable but that a significant portion of disease risk is due to environmental factors and/or genotype × environment interactions. Future identification of the genes/variants that have the most impact on disease risk may allow early recognition of high-risk individuals.

Polymorphisms in selected genes and analysis of their relationship with osteochondrosis in Polish sport horse breeds.

The aim of this research was to evaluate the polymorphisms of selected genes and to find their potential effect on the occurrence of osteochondrosis in Polish Warmbloods (sport horse breeds). The study was conducted on a group of 198 horses subjected to official performance tests. Investigated joints-fetlock, hock and stifle-were X-rayed twice, once before and again at the end of the tests (first and second examination), and on this basis the degree of disease was evaluated. Based on the results of previous research, 13 candidate genes potentially associated with the occurrence of osteochondrosis were selected and, among them, 32 polymorphisms were tested. Seven SNPs located in the MATN1, CPVL, HYAL1, XIRP2, FRZB, COL5A2 and IGF1 genes were found to be associated with occurrence of osteochondrotic lesions in different joints. These intragenic polymorphisms seem to provide valuable information about the genetic basis of osteochondrosis in sport horse breeds.

Genetic risk factors for osteochondrosis in various horse breeds.

Osteochondrosis (OC) is an injury to cartilage canals with a following necrosis in the growth cartilage, from there it can develop to osteochondrosis dissecans (OCD). Due to its high impact in the equine industry, new insights into predisposing factors and potential high-risk genetic variants are warranted. This article reviews advancements in quantitative and molecular genetics in refining estimation of genetic parameters and identifying predisposing genetic loci. Heritabilities were highest for hock OC with estimates at 0.29-0.46 in Hanoverian warmblood and Norwegian trotters, whereas in Thoroughbreds only very low genetic variation seemed to be present in hock OC lesions. Whole genome scans using the Illumina Equine SNP50 or SNP70 Beadchip were performed in Thoroughbred, Standardbred, French and Norwegian trotter, Hanoverian and Dutch warmblood. Validation studies in Spanish Purebred and Hanoverian warmblood horses corroborated OC risk loci on ECA 3, 14, 27 and 29. Particularly, a strong association with hock-OCD was found for a single nucleotide polymorphism (SNP) on horse chromosome (ECA) 3 upstream to the LCORL gene. Gene expression and microRNA analyses may be helpful to understand pathophysiological processes in equine OC and to connect OCD-associated genomic regions with potential candidate genes. Furthermore progress in elucidating the underlying genetic variants and pathophysiological changes in OC may be expected from whole genome DNA and RNA next-generation sequencing studies.

Differences between horse selection based on two forms of osteochondrosis in fetlock.

Horses lose potential opportunities because of health problems. Available breeding strategies are not effective enough, probably also because of the different definition used and its genetic usefulness. The aim of the study was to compare the genetic background estimated by the genome-wide association study (GWAS) for osteochondrosis using two different scaling osteochondrosis (OC)/healthy and osteochondrosis dissecans (OCD)/healthy systems for evaluating the disease status of investigated fetlock joints. Two hundred one Warmblood horses trained for performance tests (87 stallions and 114 mares) were phenotyped and genotyped. Four fetlock x-ray images per horse were collected using the RTG Girth HF 80 and Vet Scan ray 3600. The DNA of each horse was genotyped using the BeadChip 70K. To identify SNPs that significantly affect the probability of osteochondrosis, two different methods were applied: the Cochran-Armitage test based on an additive mode of inheritance and logistic regression. The genetic background for osteochondrosis, expressed in the number of SNPs found with significant associations with osteochondrosis, was higher by evaluation in the scale of OCD/healthy horses (16 SNPs on several chromosomes mainly on the ECA1 and ECA10) than OC/healthy (2 SNPs on the ECA15 and one SNP on the ECA10). Detailed definition of osteochondrosis is needed in breeding and in veterinary practice. The genetic background for osteochondrosis and osteochondrosis dissecans seems not the same. Suggestive SNPs could be the candidate markers for osteochondrosis but should be checked on a larger population before usage.

Prevalence and severity of osteochondrosis of the free thoracic vertebra in three modern broiler strains and the Athens Canadian Random Bred control broiler.

Osteochondrosis (OCD) results from a disturbance of endochondral ossification in articular cartilage and is an important cause of lameness in several animal species, including chickens. OCD lesions in the free thoracic vertebra (FTV) of chickens are essential to the pathogenesis of pathogenic Enterococcus cecorum. The goal of this study was to determine the prevalence of OCD in the FTV among three modern broiler chicken crosses (strains A/A, A/B, and C/C) and Athens Canadian Random Bred (ACRB) chickens, which served as the control group. The effect of sex, age, strain, body weight, and incubation temperature profile on OCD severity for each group was determined. At 2, 4, 6, and 8 weeks of age, the FTV of 10 male and 10 female birds from each strain exposed to either optimal or low-early, high-late incubation temperature profiles were collected and scored histologically for OCD lesion severity. OCD spectrum lesions were detected in >70% of all strain/sex combinations, including the ACRB controls. No association was observed between mean OCD score and broiler strain, incubation temperature profile, sex, age, or body weight. These findings indicate that OCD of the FTV is common in broiler chickens with similar prevalence observed in broilers with modern genetics and the ACRB broilers which represent 1950s broiler genetics. As the parameters examined did not have a statistical correlation with OCD, additional work is needed to understand factors that contribute to development of OCD in chickens.

Heritability and prevalence of selected osteochondrosis lesions in yearling Thoroughbred horses.

BACKGROUND: Osteochondrosis is considered multifactorial in origin, with factors such as nutrition, conformation, body size, trauma and genetics thought to contribute to its pathogenesis. Few studies have investigated the effects of genetic variability of osteochondrosis in Thoroughbreds. OBJECTIVES: To describe the prevalence and genetic variability of a subset of osteochondrosis lesions in a group of Thoroughbred yearlings. STUDY DESIGN: Retrospective cohort study. METHODS: Radiographs of 1962 Thoroughbred yearlings were retrieved from clinical records obtained between 2005 and 2013. Pedigree information was obtained from the Australian Stud Book. Osteochondrosis lesions were documented in selected joints and estimates of heritability were obtained by fitting linear mixed models in ASREML software. RESULTS: The overall prevalence of osteochondrosis was 23%. Osteochondrosis was identified in 10% of stifle joints, 6% of hock joints and 8% of fetlock joints. The heritability estimates ranged from 0 to 0.21. The largest estimates were 0.10, 0.14, 0.16 and 0.21 for lesions of the distal intermediate ridge of the tibia, dorso-proximal proximal phalanx (P1), any stifle osteochondrosis, and lesions of the lateral trochlear ridge of the distal femur, respectively. Although calculated heritability estimates had high standard errors, meta-analyses combining the present results with published estimates were significant at 0.10, 0.17, 0.15 and 0.20 for stifle, tarsal, fetlock and these joints combined, respectively. In addition, there was a permanent environment attributable to the dam effect. MAIN LIMITATIONS: Inclusion criteria were based on radiographic findings in specific joints at a specific age range in Thoroughbreds. CONCLUSIONS: The present results indicate that only a proportion of osteochondrosis in Thoroughbreds is heritable. The permanent environment effects of the dam were observed to have effects on some categories of osteochondrosis.

Heritabilities of health traits in Swiss Warmblood horses.

REASONS FOR PERFORMING STUDY: There is a lack of evidence regarding genetic parameters of health traits in Swiss Warmblood horses. OBJECTIVES: To estimate heritabilities of equine sarcoid disease, horn quality of hooves, prognathism and increased filling of talocrural joints as a possible indicator for osteochondrosis in Swiss Warmblood horses examined at the field tests for 3-year-olds between 2005 and 2013. STUDY DESIGN: Retrospective analysis of breed society database. METHODS: Swiss Warmblood horses were examined clinically by 13 veterinarians at field tests in Switzerland between 2005 and 2013. The presence of sarcoids, horn quality of the hooves, incisor occlusion and increased joint filling were assessed and recorded. Records of 3715 horses were integrated in a pedigree comprising 217,282 horses. Variance components and heritabilities were estimated on the liability scale using multiple-trait Gibbs sampler for animal models (MTGSAM). RESULTS: The prevalences of the examined traits were rather low ranging from 2.4 to 13.0%. Heritabilities estimated were 0.21 ± 0.07 for the occurrence of sarcoids, 0.04 ± 0.02 for hooves with markedly brittle and friable horn quality, 0.03 ± 0.01 for hooves with marked growth ring formation, 0.06 ± 0.03 for prognathism and 0.08 ± 0.04 for increased filling of the talocrural joint (an indicator of possible osteochondrosis). The influence of the examiner on the variance of these observations was considerable. CONCLUSIONS: With the exception of equine sarcoid disease, estimates for the heritabilities for the traits examined here were low. A standardised examination protocol may reduce the variance due to the examiner.

Polymorphisms in ten candidate genes are associated with conformational and locomotive traits in Spanish Purebred horses.

The Spanish Purebred horses, also known as Andalusian horses, compete to the highest standards in international dressage events. Gait and conformation could be used as early selection criteria to detect young horses with promising dressage ability. Although the genetic background of equine size variation has been recently uncovered, the genetic basis of horse conformational and locomotive traits is not known, hampered by the complex genetic architecture underlying quantitative traits and the lack of phenotypic data. The aim of this study was to validate the loci associated with size in 144 Spanish Purebred horses, and to seek novel associations between loci previously associated with the development of osteochondrosis (OC) lesions and 20 conformational and locomotive traits. Ten loci were associated with different conformational and locomotive traits (LCORL/NCAPG, HMGA2, USP31, MECR, COL24A1, MGP, FAM184B, PTH1R, KLF3 and SGK1), and the LCORL/NCAPG association with size in the Spanish Purebred horse was validated. Except for HMGA2, all polymorphisms seem to influence both the prevalence of OC lesions and morphological characters, supporting the link between conformation and OC. Also, the implication of most genes in either immune and inflammatory responses and cellular growth, or ossification processes, reinforces the role that these mechanisms have in the aetiology of OC, as well as their reflection on the general conformation of the individual. These polymorphisms could be used in marker-assisted selection (MAS) programmes to improve desirable conformational traits, but taking into account their possible detrimental effect on OC prevalence.

Candidate gene analysis of osteochondrosis in Spanish Purebred horses.

Equine osteochondrosis (OC) is a frequent developmental orthopaedic disease with high economic impact on the equine industry and may lead to premature retirement of the animal as a result of chronic pain and lameness. The genetic background of OC includes different genes affecting several locations; however, these genetic associations have been tested in only one or few populations, lacking the validation in others. The aim of this study was to identify the genetic determinants of OC in the Spanish Purebred horse breed. For that purpose, we used a candidate gene approach to study the association between loci previously implicated in the onset and development of OC in other breeds and different OC locations using radiographic data from 144 individuals belonging to the Spanish Purebred horse breed. Of the 48 polymorphisms analysed, three single nucleotide polymorphisms (SNPs) located in the FAF1, FCN3 and COL1A2 genes were found to be associated with different locations of OC lesions. These data contribute insights into the complex gene networks underlying the multifactorial disease OC, and the associated SNPs could be used in a marker-assisted selection strategy to improve horse health, welfare and competitive lifespan.

Identification and validation of risk loci for osteochondrosis in standardbreds.

BACKGROUND: Osteochondrosis (OC), simply defined as a failure of endochondral ossification, is a complex disease with both genetic and environmental risk factors that is commonly diagnosed in young horses, as well as other domestic species. Although up to 50 % of the risk for developing OC is reportedly inherited, specific genes and alleles underlying risk are thus far completely unknown. Regions of the genome identified as associated with OC vary across studies in different populations of horses. In this study, we used a cohort of Standardbred horses from the U.S. (n = 182) specifically selected for a shared early environment (to reduce confounding factors) to identify regions of the genome associated with tarsal OC. Subsequently, putative risk variants within these regions were evaluated in both the discovery population and an independently sampled validation population of Norwegian Standardbreds (n = 139) with tarsal OC. RESULTS: After genome-wide association analysis of imputed data with information from >200,000 single nucleotide polymorphisms, two regions on equine chromosome 14 were associated with OC in the discovery cohort. Variant discovery in these and 30 additional regions of interest (including 11 from other published studies) was performed via whole-genome sequencing. 240 putative risk variants from 10 chromosomes were subsequently genotyped in both the discovery and validation cohorts. After correction for population structure, gait (trot or pace) and sex, the variants most highly associated with OC status in both populations were located within the chromosome 14 regions of association. CONCLUSIONS: The association of putative risk alleles from within the same regions with disease status in two independent populations of Standardbreds suggest that these are true risk loci in this breed, although population-specific risk factors may still exist. Evaluation of these loci in other populations will help determine if they are specific to the Standardbred breed, or to tarsal OC or are universal risk loci for OC. Further work is needed to identify the specific variants underlying OC risk within these loci. This is the first step towards the long-term goal of constructing a genetic risk model for OC that allows for genetic testing and quantification of risk in individuals.

Identification of novel osteochondrosis--Associated genes.

During the early stages of articular osteochondrosis, cartilage is retained in subchondral bone, but the pathophysiology of this condition of growing humans and domestic animals is poorly understood. A subtractive hybridization study was undertaken to compare gene expression between the cartilage of early experimentally induced equine osteochondrosis lesions and control cartilage. Of the many putative differentially expressed genes identified, eight were confirmed by quantitative PCR analysis as differentially expressed, in addition to those already known to be associated with early lesions. Genes encoding vacuolar H(+)-ATPase V0 subunit d2 (ATP6V0D2), cathepsin K, integrin-binding sialoprotein, integrin αV, low density lipoprotein receptor-related protein 4, lumican, osteopontin, and thymosin ß4 (TMSB4) were expressed at higher levels in lesions than in control cartilage. These genes included 34 genes not previously identified in cartilage. Some genes identified as associated with early lesions are known chondrocyte hypertrophy-associated genes, and in transmission electron microscopy studies normal hypertrophic chondrocytes were observed in lesions. Differential expression of ATP6V0D2 and TMSB4 in the cartilage of early naturally occurring osteochondrosis lesions was confirmed by immunohistochemistry. These results identify novel osteochondrosis-associated genes and provide evidence that articular osteochondrosis does not necessarily result from failure of chondrocytes to undergo hypertrophy.

Next-generation sequencing identifies equine cartilage and subchondral bone miRNAs and suggests their involvement in osteochondrosis physiopathology.

BACKGROUND: MicroRNAs (miRNAs) are an abundant class of small single-stranded non-coding RNA molecules ranging from 18 to 24 nucleotides. They negatively regulate gene expression at the post-transcriptional level and play key roles in many biological processes, including skeletal development and cartilage maturation. In addition, miRNAs involvement in osteoarticular diseases has been proved and some of them were identified as suitable biomarkers for pathological conditions. Equine osteochondrosis (OC) is one of the most prevalent juvenile osteoarticular disorders in horses and represents a major concern for animal welfare and economic reasons. Its etiology and pathology remain controversial and biological pathways as well as molecular mechanisms involved in the physiopathology are still unclear. This study aims to investigate the potential role of miRNAs in equine osteochondrosis (OC) physiopathology.Short-read NGS technology (SOLID™, Life Technologies) was used to establish a comprehensive repertoire of miRNA expressed in either equine cartilage or subchondral bone. Undamaged cartilage and subchondral bone samples from healthy (healthy samples) and OC-affected (predisposed samples) 10-month Anglo-Arabian foals were analysed. Samples were also subjected or not to an experimental mechanical loading to evaluate the role of miRNAs in the regulation of mechano-transduction pathways. Predicted targets of annotated miRNAs were identified using miRmap. RESULTS: Epiphyseal cartilage and subchondral bone miRNome were defined, including about 300 new miRNAs. Differentially expressed miRNAs were identified between bone and cartilage from healthy and OC foals, as well as after an experimental mechanical loading. In cartilage, functional annotation of their predicted targets suggests a role in the maintenance of cartilage integrity through the control of cell cycle and differentiation, energy production and metabolism as well as extracellular matrix structure and dynamics. In bone, miRNA predicited targets were associated with osteoblasts and osteoclasts differentiation, though the regulation of energy production, vesicle transport and some growth factor signaling pathways. CONCLUSION: Taken together, our results suggest a role of miRNAs in equine OC physiopathology and in the cellular response to biomechanical stress in cartilage and bone. In silico target prediction and functional enrichment analysis provides new insight into OC molecular physiopathology.

Combined prevalence of inherited skeletal disorders in dog breeds in Belgium.

Canine hip dysplasia (CHD), canine elbow dysplasia (CED), and humeral head osteochondrosis (HHOC) are inherited traits with uneven incidence in dog breeds. Knowledge of the combined prevalence of these three disorders is necessary to estimate the effect of the currently applied breeding strategies, in order to improve the genetic health of the population. Official screening results of the Belgian National Committee for Inherited Skeletal Disorders (NCSID) revealed that an average of 31.8% (CHD, CED, or both; n = 1273 dogs) and 47.2% (CHD, CED, HHOC, or a combination of these three diseases; n = 250 dogs) of dogs are mildly to severely affected by at least one skeletal disorder. According to the current breeding recommendations in some dog breeds in Belgium, these animals should be restricted (mild signs) or excluded (moderate to severe signs) from breeding. The introduction of genetic parameters, such as estimated breeding values, might create a better approach to gradually reduce the incidence of these complex inherited joint disorders, without compromising genetic population health.

Evaluating portable wire-flooring models for inducing bacterial chondronecrosis with osteomyelitis in broilers.

Rearing broilers on flat or sloping wire flooring is an effective method for consistently triggering lameness attributable to bacterial chondronecrosis with osteomyelitis (BCO). Portable obstacles known as speed bumps (SB) also consistently trigger modest incidences of BCO when they are installed between feed and water lines in litter flooring facilities. Two experiments were conducted to determine the most effective broiler age for introducing the SB into litter flooring pens, and to evaluate alternative configurations of the traditional SB with the expectation that amplified mechanical challenges to the legs of broilers should increase the incidence of BCO. Broiler chicks obtained from commercial hatcheries (lines B and D in experiment 1, lines A and B in experiment 2) were reared in floor pens with ad libitum feed and water and a 23L:1D photoperiod. In experiment 1, the 5 floor treatments included wood shavings litter only (L), flat wire only (W), or litter plus SB installed at 14, 28, or 42 d of age. Line B was more susceptible to lameness than line D (25.9 vs. 15.3% for all treatments combined; P = 0.001). Both lines developed low incidences of lameness on L (11 to 13%), intermediate incidences on SB regardless of day of installation (12 to 23%), and high incidences on W (21 to 39%). In experiment 2, broilers were reared with 7 floor treatments, including L, W, SB with a 50% slope (SB50%); SB50% with a limbo bar installed over the apex; SB with a 66% slope and limbo bar; SB50% with a nipple water line suspended over the apex; and a pagoda-top SB. All SB were inserted on d 28. Line B was more susceptible to lameness than line A (20.2 vs. 16.1% for all treatments combined; P < 0.05), and for both lines combined the lameness percentages averaged 7.7 (L), 29.2 (W), 17.3 (SB50%), 16.2 (SB50% with a limbo bar), 21.5 (SB with a 66% slope and limbo bar), 20.8 (SB50% with a nipple water line), and 11.5% (pagoda-top). These studies demonstrate the portable SB can be effectively used to experimentally trigger BCO in broilers.

Genetic trends of conformation traits and genetic correlations to osteochondrosis in boars.

The objective of our study was to investigate the heritabilities and genetic correlations between traits from a linear exterior assessment system and osteochondrosis (OC) measured by computed tomography (CT), and in addition, to study the genetic trend in a population where the conformation traits have been included in the breeding goal. The data material consisted of phenotypes from a total of 4571 Norsvin Landrace test boars. At the end of the test period, all boars were subjected to a detailed exterior assessment system. Within 10 days of the assessment, the boars were CT scanned for measuring OC. The total score of osteochondrosis (OCT), used in this study, is the sum of phenotypes from the assessment on the medial and lateral condyles at the distal end of both the humerus and the femur of the right and the left leg of the boar based on images from CT. The exterior assessment traits included in the study were; 'front leg knee' (FKNE), 'front leg pasterns' (FPAS), 'front leg stance' (FSTA), 'front leg twisted pasterns' (FFLK), 'hind leg stance', 'hind leg pasterns' (HPAS), 'hind leg standing under' (HSTU), 'hind leg small inner toe', 'dipped back', 'arched back' (ARCH) and 'waddling hindquarters' (WADL). The estimation of (co)variance components and breeding values were performed using bivariate animal genetic models. Breeding values for HSTU, HPAS, FPAS, WADL and OCT traits were additional outputs from the same bivariate analyses. The lowest heritability was found for FFLK (h 2 FFLK=0.05), whereas FPAS was estimated to have the highest heritability (h 2 FPAS=0.36), and OCT demonstrating a heritability of 0.29. Significant genetic correlations were found between several traits; the strongest correlation was between FSTA and FFLK (0.94), which was followed by the correlation between FPAS and FKNE (0.69). The traits ARCH and FSTA had significant genetic correlations to OCT, whereas all other genetic correlations between OCT and the conformation traits were low and not significantly different from 0. Our study shows positive genetic trends for the conformation traits included in the breeding goal. In general, low genetic correlations between conformation traits and OC were observed in our study.

Heritability estimates of tarsocrural osteochondrosis and palmar/plantar first phalanx osteochondral fragments in Standardbred trotters.

REASONS FOR PERFORMING STUDY: The pathogenesis of osteochondrosis (OC) and palmar/plantar first phalanx osteochondral fragments (POFs) is multifactorial, but specific knowledge of heritability is limited. OBJECTIVES: To improve the precision of heritability estimates and to estimate the genetic correlation between tarsocrural OC and POFs in Standardbred trotters. Further aims were to examine whether the prevalence of OC/POFs was different in the American and French lineages that have contributed to the Norwegian population, and if the prevalence was affected by heterozygosity. STUDY DESIGN: Retrospective cohort study. METHODS: Categorical data on tarsocrural OC and POFs from 2 radiographic studies performed in 1989 and 2007/2008 (n = 1217) were analysed with sire threshold models that included 230 sires. RESULTS: Heritability of OC at the distal intermediate ridge of the tibia and/or the lateral trochlear ridge of the talus was estimated at 0.29 ± 0.15. For OC at the distal intermediate ridge of the tibia only, the estimate was 0.40 ± 0.17. Heritability of POFs in all 4 limbs was estimated at 0.23 ± 0.13; for metatarsophalangeal POFs this was 0.26 ± 0.13 and for medial metatarsophalangeal POFs 0.32 ± 0.14. Estimates of genetic correlation between OC and POFs ranged from 0.68 ± 0.27 to 0.73 ± 0.28 but were not significantly different from a zero-genetic correlation. Effects of lineages or heterozygosity were not observed. CONCLUSIONS AND POTENTIAL RELEVANCE: This study confirmed a moderate to high heritability of tarsocrural OC and POF, providing further evidence of the heritable nature of these diseases. Examination of specific lesions yielded the highest heritability; therefore, breeding programmes and future genome-analysis studies should focus on predilection sites rather than the entire disease complex.