OMIA:000750-9823 : Osteochondrosis in Sus scrofa

In other species: dog , horse , chicken , sheep , deer , taurine cattle , raccoon dog , domestic cat

Categories: Skeleton phene (incl. short stature & teeth)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 181440 (trait) , 188700 (trait) , 259200 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Abnormal growth ossification centers in young, growing animals. Initially a degeneration/ necrosis followed by regeneration or recalcification. Osteochondrosis (OC) lesions that result is bone or cartilage fragments are called osteochondritis dissecans (OCD) - see OMIA000748.

Inheritance: From a segregation analysis of OC data on 1163 pigs (with a total of 2,891 pigs in the pedigree file), Kadarmideen and Janss (2005) obtained convincing evidence of a gene of large effect, and heritability estimates (including the major-gene effect and polygenes) ranging from 0.65 to 0.90.

Mapping: A genome scan with microsatellites on 192 F2 pigs from a wild boar x Large White cross, conducted by Andersson-Eklund et al. (2000), highlighted QTL on chromosomes SSC5, SSC13 and SSC15.

Rangkasenee et al. (2013) conducted a GWAS on OC data from 298 Large White pigs each genotyped with the porcine 60K SNP chip, implicating regions on chromosomes SSC3, 5, 8, 10, 14, and 18. The most significant SNP identified a 465kb region on SSC14, which includes a likely candidate gene, namely TBX5, which encodes T-box transcription factor 5. A SNP in this gene showed promising association with OC.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000750-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2022 Olstad, K., Aasmundstad, T., Kongsro, J., Grindflek, E. :
Osteochondrosis and other lesions in all intervertebral, articular process and rib joints from occiput to sacrum in pigs with poor back conformation, and relationship to juvenile kyphosis. BMC Vet Res 18:44, 2022. Pubmed reference: 35042517 . DOI: 10.1186/s12917-021-03091-6.
2016 Tóth, F., Torrison, J.L., Harper, L., Bussieres, D., Wilson, M.E., Crenshaw, T.D., Carlson, C.S. :
Osteochondrosis prevalence and severity at 12 and 24 weeks of age in commercial pigs with and without organic-complexed trace mineral supplementation. J Anim Sci 94:3817-3825, 2016. Pubmed reference: 27898885 . DOI: 10.2527/jas.2015-9950.
2015 Etterlin, P.E., Morrison, D.A., Österberg, J., Ytrehus, B., Heldmer, E., Ekman, S. :
Osteochondrosis, but not lameness, is more frequent among free-range pigs than confined herd-mates. Acta Vet Scand 57:63, 2015. Pubmed reference: 26416598 . DOI: 10.1186/s13028-015-0154-7.
2014 Olstad, K., Kongsro, J., Grindflek, E., Dolvik, N.I. :
Ossification defects detected in CT scans represent early osteochondrosis in the distal femur of piglets. J Orthop Res :, 2014. Pubmed reference: 24740876 . DOI: 10.1002/jor.22631.
2013 [No authors listed] :
TBX5 identified as a candidate gene responsible for osteochondrosis in pigs. Bonekey Rep 2:430, 2013. Pubmed reference: 24422130 . DOI: 10.1038/bonekey.2013.164.
Aasmundstad, T., Kongsro, J., Wetten, M., Dolvik, N.I., Vangen, O. :
Osteochondrosis in pigs diagnosed with computed tomography: heritabilities and genetic correlations to weight gain in specific age intervals. Animal :1-7, 2013. Pubmed reference: 23806321 . DOI: 10.1017/S1751731113001158.
Crenshaw, T.D., Schneider, D.K., Carlson, C.S., Parker, J.B., Sonderman, J.P., Ward, T.L., Wilson, M.E. :
Tissue mineral concentrations and osteochondrosis lesions in profilic sows across parities 0 through 7. J Anim Sci :, 2013. Pubmed reference: 23296836 . DOI: 10.2527/jas.2012-5252.
McCoy, A.M., Toth, F., Dolvik, N.I., Ekman, S., Ellermann, J., Olstad, K., Ytrehus, B., Carlson, C.S. :
Articular Osteochondrosis: A Comparison of Naturally-Occurring Human and Animal Disease. Osteoarthritis Cartilage :, 2013. Pubmed reference: 23954774 . DOI: 10.1016/j.joca.2013.08.011.
Rangkasenee, N., Murani, E., Brunner, R.M., Schellander, K., Cinar, M.U., Luther, H., Hofer, A., Stoll, M., Witten, A., Ponsuksili, S., Wimmers, K. :
Genome-Wide Association Identifies TBX5 as Candidate Gene for Osteochondrosis Providing a Functional Link to Cartilage Perfusion as Initial Factor. Front Genet 4:78, 2013. Pubmed reference: 23675383 . DOI: 10.3389/fgene.2013.00078.
Rangkasenee, N., Murani, E., Schellander, K., Cinar, M.U., Ponsuksili, S., Wimmers, K. :
Gene expression profiling of articular cartilage reveals functional pathways and networks of candidate genes for osteochondrosis in pigs. Physiol Genomics :, 2013. Pubmed reference: 23922127 . DOI: 10.1152/physiolgenomics.00055.2013.
Sugiyama, T., Kusuhara, S., Chung, T.K., Yonekura, H., Azem, E., Hayakawa, T. :
Effects of 25-hydroxy-cholecalciferol on the development of osteochondrosis in swine. Anim Sci J 84:341-9, 2013. Pubmed reference: 23590509 . DOI: 10.1111/asj.12000.
Tóth, F., Nissi, M.J., Zhang, J., Benson, M., Schmitter, S., Ellermann, J.M., Carlson, C.S. :
Histological confirmation and biological significance of cartilage canals demonstrated using high field MRI in swine at predilection sites of osteochondrosis. J Orthop Res :, 2013. Pubmed reference: 23939946 . DOI: 10.1002/jor.22449.
2012 de Koning, D.B., van Grevenhof, E.M., Laurenssen, B.F., Ducro, B.J., Heuven, H.C., de Groot, P.N., Hazeleger, W., Kemp, B. :
Associations between osteochondrosis and conformation and locomotive characteristics in pigs. J Anim Sci :, 2012. Pubmed reference: 22871924 . DOI: 10.2527/jas.2012-5310.
Rangkasenee, N., Murani, E., Brunner, R., Schellander, K., Cinar, M.U., Scholz, A.M., Luther, H., Hofer, A., Ponsuksili, S., Wimmers, K. :
KRT8, FAF1 and PTH1R gene polymorphisms are associated with leg weakness traits in pigs. Mol Biol Rep :, 2012. Pubmed reference: 23196707 . DOI: 10.1007/s11033-012-2301-9.
2007 Ytrehus, B., Carlson, CS., Ekman, S. :
Etiology and pathogenesis of osteochondrosis. Vet Pathol 44:429-48, 2007. Pubmed reference: 17606505 . DOI: 10.1354/vp.44-4-429.
2005 Kadarmideen, HN., Janss, LL. :
Evidence of a major gene from Bayesian segregation analyses of liability to osteochondral diseases in pigs. Genetics 171:1195-206, 2005. Pubmed reference: 16020792 . DOI: 10.1534/genetics.105.040956.
2004 Ytrehus, B., Ekman, S., Carlson, CS., Teige, J., Reinholt, FP. :
Focal changes in blood supply during normal epiphyseal growth are central in the pathogenesis of osteochondrosis in pigs. Bone 35:1294-306, 2004. Pubmed reference: 15589210 . DOI: 10.1016/j.bone.2004.08.016.
2002 Jefferies, D., Farquharson, C., Thomson, J., Smith, W., Seawright, E., McCormack, H., Whitehead, C. :
Differences in metabolic parameters and gene expression related to osteochondrosis/osteoarthrosis in pigs fed 25-hydroxyvitamin D-3 Veterinary Research 33:383-396, 2002. Pubmed reference: 12199365 . DOI: 10.1051/vetres:2002024.
2000 Andersson-Eklund, L., Uhlhorn, H., Lundeheim, N., Dalin, G., Andersson, L. :
Mapping quantitative trait loci for principal components of bone measurements and osteochondrosis scores in a wild boar x Large White intercross Genetical Research 75:223-230, 2000. Pubmed reference: 10816979 .
Jorgensen, B. :
Osteochondrosis/osteoarthrosis and claw disorders in sows, associated with leg weakness Acta Veterinaria Scandinavica 41:123-138, 2000. Pubmed reference: 10965563 .
Yazdi, M.H., Lundeheim, N., Rydhmer, L., Ringmar-Cederberg, E., Johansson, K. :
Survival of Swedish Landrace and Yorkshire sows in relation to osteochondrosis: a genetic study Animal Science 71:1-9, 2000.
1998 Bickhardt, K. :
Exertional myopathy and osteochondrosis of pigs as a result of breeding for growth rate [German] Tierarztliche Umschau 53:129-134, 1998.
Ekman, S., Carlson, C.S. :
The pathophysiology of osteochondrosis Veterinary Clinics of North America - Small Animal Practice 28:17-32, 1998. Pubmed reference: 9463856 .
1995 Nakano, T., Aherne, F.X. :
A histochemical and immunohistochemical study of proteoglycans in normal and osteochondrotic joint cartilage of swine Canadian Journal of Animal Science 75:477-480, 1995.
Stern, S., Lundeheim, N., Johansson, K., Andersson, K. :
Osteochondrosis and leg weakness in pigs selected for lean tissue growth rate Livestock Production Science 44:45-52, 1995.
Thorp, B.H., Ekman, S., Jakowlew, S.B., Goddard, C. :
Porcine osteochondrosis: Deficiencies in transforming growth factor-beta and insulin-like growth factor-I Calcified Tissue International 56:376-381, 1995. Pubmed reference: 7621345 .
Uhlhorn, H., Dalin, G., Lunedheim, N., Ekman, S. :
Osteochondrosis in wild boar Swedish Yorkshire crossbred pigs (F2 generation) Acta Veterinaria Scandinavica 36:41-53, 1995. Pubmed reference: 7572457 .
1994 Blowey, R.W. :
Trochanter fracture and patellar osteochondrosis as causes of lameness in pigs Veterinary Record 134:601-603, 1994. Pubmed reference: 8085326 .
He, P., Aherne, F.X., Schaefer, A.L., Thompson, J.R., Nakano, T., Jones, S.D.M. :
Differentiation of the Effects of Somatotropin and Enhanced Growth Rate on the Occurrence of Osteochondrosis in Pigs Canadian Journal of Animal Science 74:251-255, 1994.
Wardale, R.J., Duance, V.C. :
Characterisation of Articular and Growth Plate Cartilage Collagens in Porcine Osteochondrosis Journal of Cell Science 107:47-59, 1994. Pubmed reference: 8175922 .
1990 Hill, M.A., Kincaid, S.A., Visco, D.M. :
Use of Histochemical Techniques in the Characterisation of Osteochondroses Affecting Pigs Veterinary Record 127:29-37, 1990. Pubmed reference: 2396355 .
Hill, M.A. :
Causes of Degenerative Joint Disease (Osteoarthrosis) and Dyschondroplasia (Osteochondrosis) in Pigs Journal of the American Veterinary Medical Association 197:107-113, 1990. Pubmed reference: 2196249 .
Hill, M.A. :
Economic Relevance, Diagnosis, and Countermeasures for Degenerative Joint Disease (Osteoarthrosis) and Dyschondroplasia (Osteochondrosis) in Pigs Journal of the American Veterinary Medical Association 197:254-259, 1990. Pubmed reference: 2200764 .
1988 Goedegebuure, S.A., Rothschild, M.F., Christian, L.L., Ross, R.F. :
Severity of osteochondrosis in three genetic lines of Duroc swine divergently selected for front-leg weakness Livestock Production Science 19:487-498, 1988.
Wegner, W. :
[Genetic aspects of systemic mineral metabolic deficiencies] Tierarztliche Praxis 16:36-39, 1988.
1987 Rothschild, M.F., Goededebuure, S.A., Christian, L.L., Ross, R.F. :
Evidence of osteochondrosis in swine from 5 generations of divergent selection for leg weakness :92-93, 1987.
Wall, P.G. van der, Goedegebuure, S.A., Valk, P.C. van der, Engel, B., Essen, G. van :
Leg weakness and osteochondrosis in pigs: differences between the sexes of four breeds Livestock Production Science 16:65-74, 1987.
1986 Lundeheim, N., Andersson, K. :
[Breeding for a lower incidence of osteochondrosis and better legs in pigs] Konsulentavdelningens Rapporter, Sveriges Lantbruksuniversitet :7:1-8, 1986.
Seifert, H., Nagel, E. :
[Results of breeding experiments on juvenile osteochondropathy of the skeletal extremities in finishing pigs] Wissenschaftliche Zeitschrift der Humboldt-Universitat zu Berlin, Mathematisch-Naturwissenschaftliche Reihe 35:382-387, 1986.
1981 Seifert, H., Nagel, E., Seffner, W., Baumann, G. :
Studies into population genetics and use of phenotypical assessment for estimation of heritability of juvenile osteochondropathies in heavy baconers Monatshefte fur Veterinarmedizin 36:781-783, 1981.
Seifert, H., Nagel, E., Seffner, W., Baumann, G. :
Studies into population genetics regarding manifestation, incidence, and depressive action of juvenile osteochondropathies in heavy baconers Monatshefte fur Veterinarmedizin 36:778-780, 1981.
1980 Reiland,S., Ordell- Gustafson,N., Lundeheim,N. :
Heredity of osteochondrosis (swine) Proceedings of the International Pig Veterinary Society Congress, Copenhagen :328 only, 1980.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 17 May 2013
  • Changed by Imke Tammen2 on 29 Jan 2022