Genetics of Equine Orthopedic Disease

Metzger, Julia; Distl, O.

doi:10.1016/j.cveq.2020.03.008

Cited by 12 publications

(5 citation statements)

References 73 publications

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“…Breed differences in the prevalence of various equine orthopaedic diseases are known to exist 20 and were recently also noted in the developmental anatomy and associated phenotypical variations of the equine vertebral column. 15 Thus, the overall outcome of this study was expected.…”

Section: Discussionmentioning

confidence: 99%

Osseous pathologic changes in the lumbar region of the equine vertebral column: A descriptive post‐mortem study in three breeds

Spoormakers,

Veraa,

Graat

et al. 2023

Equine Veterinary Journal

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BackgroundData on equine lumbar pathology hardly exist in breeds other than Thoroughbreds.ObjectivesTo describe pathological changes of the osseous lumbar vertebral column in Warmblood horses, Shetland ponies and Konik horses.Study designDescriptive post‐mortem study.MethodsThe lumbar vertebral columns of 34 Warmblood horses, 28 Shetland ponies, and 18 Konik horses were examined by computed tomography (CT). Osteoarthritis (OA) of articular processes (APJs), OA of intertransverse joints (ITJs), intervertebral disc (IVD) mineralisation, impingement of spinous (SPs) and transverse (TPs) processes and spondylosis were scored. Breed differences in prevalence and severity of pathologies were analysed by linear regression analysis and by calculating Spearman's rank correlation coefficients (rs).ResultsIn Warmblood horses, the prevalence of OA of APJs, impingement of SPs and TPs was respectively 90%, 36%, and 35%, significantly higher than in the other breeds (p < 0.001). In Konik horses, IVD mineralisation (40%) and spondylosis (10%) were more frequent than in Warmbloods and Shetland ponies (p = 0.03). Severity score for OA of ITJs was highest in Shetland ponies (p < 0.001). For impingement of SPs, severity score was highest in Warmbloods (p = 0.03), and of TPs lowest in Shetland ponies (p = 0.003). For all parameters, except for spondylosis in Shetland ponies, there was a positive correlation between percentage of vertebrae affected and age, with IVD mineralisation scores increasing faster in Konik horses (p < 0.001). In all breeds, there was also a positive relation between scores of severity and age for OA of APJs and ITJs and for IVD mineralisation, with severity scores increasing faster in Shetland ponies (p = 0.04). Strong left/right correlations of the severity scores were seen for OA of the APJ, ITJ, impingement of TPs, and paramedian spondylosis (rs = 0.74–0.86, all p < 0.001).Main limitationsClinical histories were not available.ConclusionsThere are distinct breed differences between prevalence and severity of osseous pathologies of the lumbar spine. Warmblood horses have higher scores for most pathologies with IVD mineralisation being more important in Konik horses and OA of ITJs in Shetland ponies.

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Section: Discussionmentioning

confidence: 99%

Osseous pathologic changes in the lumbar region of the equine vertebral column: A descriptive post‐mortem study in three breeds

Spoormakers,

Veraa,

Graat

et al. 2023

Equine Veterinary Journal

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“…During past decades, investigation of the molecular pathology of DSLD, disturbances to signaling pathways, genome-wide analysis with low-density markers, and case–control gene expression analysis have been performed ( Young et al 2018 ; Mero and Pool 2002 ; Haythorn et al 2020 ). A low-resolution genome-wide association study (GWAS) in the PH identified candidate loci on Equus caballus autosomes (ECAs) 6, 7, 11, 14, and 26 that did not meet genome-wide significance ( Strong 2005 ; Metzger and Distl 2020 ). Therefore, improved understanding of the genetic contribution to DSLD is needed.…”

Section: Introductionmentioning

confidence: 99%

Selection signature analyses and genome-wide association reveal genomic hotspot regions that reflect differences between breeds of horse with contrasting risk of degenerative suspensory ligament desmitis

Momen

Brounts

Binversie

et al. 2022

G3 Genes|Genomes|Genetics

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Degenerative suspensory ligament (SL) desmitis (DSLD) is a progressive idiopathic condition that leads to scarring and rupture of SL fibers in multiple limbs in horses. Prevalence of DSLD is breed-related. Risk is high in the Peruvian Horse (PH), whereas pony and draft breeds have low breed risk. DSLD occurs in families of PHs, but its genetic architecture has not been definitively determined. We investigated contrasts between breeds with differing risk of DSLD and identified associated risk variants and candidate genes. We analyzed 670K single nucleotide polymorphisms (SNPs) from ten breeds, each of which was assigned one of four breed DSLD risk categories: Control (Belgian, Icelandic Horse, Shetland Pony, and Welsh Pony), Low Risk (Lusitano, Arabian), Medium Risk (Standardbred, Thoroughbred, Quarter Horse), and High Risk (Peruvian Horse). SNPs were used for genome-wide association and selection signature analysis using breed assigned risk levels. We found that the PH is a population with low effective population size and our breed contrasts suggest that DSLD is a polygenic disease. Variant frequency exhibited signatures of positive selection across DSLD breed risk groups on chromosomes 7, 18, and 23. Our results suggest DSLD breed risk is associated with disturbances to SL homeostasis where matrix responses to mechanical loading are perturbed through disturbances to aging in tendon (PIN1), mechanotransduction (KANK1, KANK2, JUNB, SEMA7A), collagen synthesis (COL4A1, COL5A2, COL5A3, COL6A5), matrix responses to hypoxia (PRDX2), lipid metabolism (LDLR, VLDLR), and BMP signaling (GREM2). Our results do not suggest that SL proteoglycan turnover is a primary factor in disease pathogenesis.

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“…Патології кісткової тканини та суглобових структур є поширеними серед коней, про що свідчить значна кількість наукової літератури [1,2]. Це повʼязано з багатьма чинниками, серед яких слід виділити наступні: вік, надмірне фізичне навантаження під час експлуатації тварини, травми, незбалансоване харчування та генетична схильність [3][4][5]. Крім того, певні патології, наприклад, остеоартроз, можуть прогресувати через те, що не проявляють виражених клінічних ознак на початкових стадіях та діагностуються вже на пізніх стадіях розвитку захворювання.…”

Section: державний біотехнологічний університетunclassified

Analysis of the prevalence of osteoarticular pathologies in horses based on the results of radiography

Aharkova,

Sliusarenko,

Novytskyi

2023

Nauk. vìsn. vet. med.

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This article provides an overview of the literatureand recent scientific research on the spread of bone andjoint pathology among horses. Reasoned relevance andprospects of research on this issue.The article also presents the results of own research aimed at analyzing the distribution of bone andjoint diseases in horses on the territory of equestriansports clubs of Kharkiv region, Poltava region andKyiv region with the aim of finding out the frequencyof occurrence of this group of pathologies.To achievethe goal, radiography of 40 heads of horses aged 8-21years of riding breeds, which had signs of lamenessof the resisting limb, was carried out. Based on theresults of the research, differential diagnosis of boneand joint diseases was carried out. Differential diagnosis of arthrosis was presented taking into account thepathological process and its localization. According tothe obtained data, arthrosis accounted for 55% of thetotal number of studied animals, osteoporosis – 25%,periostitis – 7.5%, cystic formations and bone cracks –7.5%. Bone and joint pathology was not detected in theremaining 5%. Arthritic phenomena were localized inthe joints of the distal part of the limbs, namely: hoof,coronal, putative, carpal and hock. A case was registered when the degenerative process was concentratednot only in one joint, but also moved to the lower one.Among 55% of arthrosis, there were cases of osteoarthrosis, exfoliative osteochondritis, presence of ossification within the joint. The article also comparesown results with data obtained by foreign researchersregarding the distribution of bone and joint pathologiesin horses.In addition, the article substantiates the feasibilityof analyzing the spread of bone and joint diseases inhorses and demonstrates the effectiveness of X-ray diagnostics of these pathologies. Key words: arthrosis, periostitis, osteoporosis, osteoarthritis, osteoarthritis of the hock joint, osteochondritis dissecans, ossification.

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Genetics of Equine Orthopedic Disease

Cited by 12 publications

References 73 publications

Osseous pathologic changes in the lumbar region of the equine vertebral column: A descriptive post‐mortem study in three breeds

Osseous pathologic changes in the lumbar region of the equine vertebral column: A descriptive post‐mortem study in three breeds

Selection signature analyses and genome-wide association reveal genomic hotspot regions that reflect differences between breeds of horse with contrasting risk of degenerative suspensory ligament desmitis

Analysis of the prevalence of osteoarticular pathologies in horses based on the results of radiography

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