Osteochondrosis in horses: An overview of genetic and other factors

Osteochondrosis (OC) is a frequent manifestation of developmental orthopaedic disease, and its severe clinical presentation is known as OC dissecans (OCD). OC is defined as a disruption of the endochondral ossification process in the epiphyseal cartilage, and this disease has been reported in different mammalian species, including humans, dogs, pigs, and horses. OCD is an important cause of lameness in sport horses and is a common cause of impaired orthopaedic potential, whose clinical signs may be of minimal magnitude or manifest as severe joint effusion or clinically noticeable lameness. The aetiology of OCD is unknown, although it has traditionally been considered to be multifactorial. In addition to genetic factors, associated factors include both non-genetic elements such as rapid growth, nutrition, trauma, anatomical conformation, and biomechanics. Since the prevalence of the disease varies greatly depending on the horse breed, from 13% in Swedish Warmblood to 53% in Lusitano breed, genetic factors have a great relevance in the appearance and development of OCD in horses. Many genetic modifications have been related, and the genes involved can be grouped into five clusters, related to fundamental functions for the correct development and regeneration of cartilage, such as collagen, laminin, cell signalling, matrix turnover, and transcriptional regulation. Changes in genes such as COL3A1, COL5A1, COL5A2, COL24A1, COL27A1 (collagen cluster), LAMB1 (laminin cluster), PTH, PHT receptors, and IHH (cell signalling), and genes encoding matrix metalloproteinases have been related to the occurrence and severity of diseases in different equine breeds. This review summarises the main factors associated with OC in horses, with particular emphasis on genetic factors.