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.     

OSTEOCHONDROSIS IN THE LATERAL FEMORAL CONDYLES OF A HORSE

Osteochondrosis of the lateral femoral condyles was diagnosed radiographically in an 8-month-old, female Arabian horse, which had been presented with a hindlimb lameness. The diagnosis was confirmed by gross and microscopic pathology. The location of the lesions was considered unusual for osteochondrosis in the horse.     

Developmental orthopaedic disease and early osteoarthritis of the temporomandibular joint in a 15-month-old Quarter Horse filly

A 15-month-old Quarter Horse filly presented for evaluation of hard swellings over the left temporomandibular joint (TMJ) and the right metatarsophalangeal joint (MTPJ). The TMJ swelling had been noted since she was weaned at 4 months of age and had slowly enlarged since then. Radiographs of both TMJs and the right MTPJ were performed, which revealed severe osteoarthrosis associated with osteochondrosis-like lesions. The filly was subjected to euthanasia due to the poor prognosis for performance. Computed tomography and post-mortem examination, including histopathology of the left TMJ, revealed early osteoarthritis (OA) associated with osteochondrosis-like lesions of the left TMJ and the right MTPJ, while the right hind proximal interphalangeal joint (PIPJ) was diagnosed with early OA.     

PREVALENCE OF COMPUTED TOMOGRAPHIC SUBCHONDRAL BONE LESIONS IN THE SCAPULOHUMERAL JOINT OF 32 IMMATURE DOGS WITH THORACIC LIMB LAMENESS

Osteochondrosis is a common developmental abnormality affecting the subchondral bone of immature, large breed dogs. The purpose of this retrospective study was to describe CT lesions detected in scapulohumeral joints of 32 immature dogs undergoing CT for thoracic limb lameness. Eight dogs (14 scapulohumeral joints) had arthroscopy following imaging. Thirteen dogs (19 scapulohumeral joints) were found to have CT lesions, including 10 dogs (16 scapulohumeral joints) with subchondral bone lesions and 3 dogs with enthesopathy of the supraspinatus tendon. In one dog, subchondral bone lesions appeared as large oval defects within the mid‐aspect of the glenoid cavities, bilaterally. These lesions resembled osseous cyst‐like lesions commonly identified in the horse. This is the first report of such a presentation of a subchondral bone lesion in the glenoid cavity of a dog. In all dogs, small, focal, round or linear lucent defects were visible within the cortical bone at the junction of the greater tubercle and intertubercular groove. These structures were thought to represent vascular channels. Findings from this study support the use of CT as an adjunct modality for the identification and characterization of scapulohumeral subchondral bone lesions in immature dogs with thoracic limb lameness.     

ENLARGING BILATERAL FEMORAL CONDYLAR BONE CYSTS WITHOUT SCINTIGRAPHIC UPTAKE IN A YEARLING FOAL

Bilateral subchondral bone cysts of the femoral condyles were diagnosed by conventional radiography in a 14 month old Appaloosa colt. Surgical debridement was performed, and over the next 18 months the appearance of the cysts was evaluated with radiography and bone scintigraphy. On the preoperative scintigrams, increased radiopharmaceutical uptake was associated with the cysts. Despite continued radiographic enlargement, the cysts did not demonstrate increased radiopharmaceutical uptake post-operatively.     

青年猪骨软骨病病理组织学变化与分类

研究了265头青年猪1 060个关节(附关节和腕关节各530个)骨软骨病的病理组织学变化.肉眼观察主要表现为患部关节软骨变色、充血,关节面粗糙、裂开、糜烂或凹陷,并根据其损伤程度进行分类,即正常、轻度、中度和严重,分别占21.7%、33.3%、29.0%、16.0%.显微观察特征为关节软骨局部增厚,软骨细胞增生、肥大;在一些区域软骨细胞变性、坏死,坏死区易形成裂隙;骨质内形成软骨岛.结论:青年猪有很高的骨软骨病发病率,后肢比前肢严重,并表现典型的骨软骨病组织病理学特征.     

Osteochondrosis and arthrosis in pigs. 3. A comparison of the incidence in young animals of the Norwegian Landrace and Yorkshire breeds

An investigation concerning the occurrence of osteochondrosis and arthrosis in 2 materials totalling 63 pigs of the Landrace breed and 63 of the Yorkshire breed is described. The animals were bred under the same conditions of feeding and housing. The differences should therefore mainly be of genetic origin. Both breeds were highly improved, Landrace the most. In general, Yorkshire pigs showed a lower incidence and a less marked degree of osteochondrosis and arthrosis than Landrace pigs. Statistically significant differences (P < 0.01) were demonstrated in the distal epiphyseal plate of the ulna, in the intervertebral joints of the lumbar region and in the medial condyle of the femur in 1 of the materials. The Landrace pigs had longer bodies, broader hindquarters, shorter femurs, and the stifle had a different shape as compared with Yorkshire pigs. There thus seemed to be a connection between exterior features, joint and bone shape and the occurrence of joint lesions. Differences among litters within breed were also demonstrated.     

Osteochondrosis and osteochondral fragments in Standardbred trotters: prevalence and relationships

Reasons for performing study: Developmental orthopaedic diseases (DOD) such as osteochondrosis (OC)/osteochondrosis dissecans (OCD), palmar/plantar osteochondral fragments (POF), ununited palmar/plantar eminences (UPE) and dorsoproximal first phalanx fragments are well recognised in the horse. Aetiopathogeneses are controversial and molecular genetic screening of DNA has recently been employed for their elucidation. Precise phenotypic definition and knowledge of breed‐specific prevalence and interrelations are essential for the interpretation of following genomic studies in Standardbred trotters. Objectives: To assess the prevalence, trend of development and interrelation of DOD in tarsocrural, metacarpophalangeal (MCP) and metatarsophalangeal (MTP) joints in Standardbred trotters. Methods: The tarsocrural and MCP/MTP joints of 464 Norwegian Standardbred yearlings were radiographed and the prevalence and interrelation of osteochondral lesions calculated. Results: Osteochondral lesions were diagnosed in 50.7% of the horses. The prevalence of tarsocrural OC/OCD at the distal intermediate ridge of the tibia (DIT) and the lateral trochlear ridge of the talus (LTT) was 19.3%. The prevalence of OC/OCD in MCP joints was 3.6%, whereas those of POF and UPE in MCP/MTP joints were 23.1 and 3.9%, respectively. Interrelation was evident for 1) most equivalent lesions in joint homologues, 2) OCD DIT and OCD LTT and 3) POF and UPE. Lesions in hock and fetlock joints were generally not significantly associated. Conclusions: The prevalence of tarsocrural OC/OCD in Norwegian Standardbreds is apparently increasing, whereas that of other articular DOD appears stable. Association analyses verify bilateralism for most equivalent lesions and suggest aetiological resemblance also between other lesions. The absence of a significant association between tarsocrural OCD and POF implies that the lesions must be considered statistically different disorders. Potential relevance: The prevalence results emphasise that DOD should be considered in Standardbred breeding regimens (e.g. by sire selection subsequent to progeny testing). Also, improved phenotypic definitions will help elucidate the true causal genes in following genomic studies.