You are here: OMIA / Search / OMIA:002086 / horse

OMIA:002086-9796 : Degenerative suspensory ligament desmitis in Equus caballus (horse)

Categories: Limbs / fins / digit / tail phene

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Disease-related: yes

Key variant known: no

Inheritance: Momen et al. (2023): "Heritability was estimated in a population of 1,927 Peruvian horses at 0.22 ± 0.08."

Mapping: Momen et al. (2023) aimed to identify genomic regions associated with degenerative suspensory ligament desmitis (DSDL) in 183 case and control Peruvian horses. The authors "undertook a genome-wide association study (GWAS), a regional window variance analysis using local genomic partitioning, a signatures of selection (SOS) analysis, and polygenic risk score (PRS) prediction of DSLD risk. ... 151 DSLD risk single nucleotide polymorphisms (SNPs) were identified by GWAS. Multiple regions of enriched local heritability were identified across the genome, with strong enrichment signals on chromosomes 1, 2, 6, 10, 13, 16, 18, 22, and the X chromosome. With SOS analysis, there were 66 genes with a selection signature in DSLD cases that was not present in the control group that included the TGFB3 gene."

Breed: Peruvian Paso (Horse) (VBO_0001042).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002086-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

2023 Lynch, N., Taylor, C.J., McGilvray, T., Tucker, R., Bathe, A., Elliott, C.R.B., Smith, R.K.W. :
Desmitis of the accessory ligament of the deep digital flexor tendon in the forelimb: A retrospective case study of 91 horses. Equine Vet J 56:936-943, 2023. Pubmed reference: 37783565. DOI: 10.1111/evj.14010.
Momen, M., Brauer, K., Patterson, M.M., Sample, S.J., Binversie, E.E., Davis, B.W., Cothran, E.G., Rosa, G.J.M., Brounts, S.H., Muir, P. :
Genetic architecture and polygenic risk score prediction of degenerative suspensory ligament desmitis (DSLD) in the Peruvian Horse. Front Genet 14:1201628, 2023. Pubmed reference: 37645058. DOI: 10.3389/fgene.2023.1201628.
Roberts, J.H., Zhang, J., David, F., McLean, A., Blumenshine, K., Müller-Alander, E., Halper, J. :
Expression of genes with biomarker potential identified in skin from DSLD-affected horses increases with age. PLoS One 18:e0287740, 2023. Pubmed reference: 37450486. DOI: 10.1371/journal.pone.0287740.
2022 Momen, M., Brounts, S.H., Binversie, E.E., Sample, S.J., Rosa, G.J.M., Davis, B.W., Muir, P. :
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. G3 (Bethesda) 12:jkac179, 2022. Pubmed reference: 35866615. DOI: 10.1093/g3journal/jkac179.
Wrangberg, T., Kendall, A. :
Who is healthy? A review of how equine control groups are defined in clinical orthopaedic research 1999-2021. Vet Comp Orthop Traumatol 35:213-219, 2022. Pubmed reference: 35512819. DOI: 10.1055/s-0042-1745756.
2021 Roberts, J.H., Halper, J. :
Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427. DOI: 10.1007/978-3-030-80614-9_15.
2016 Luo, W., Sandy, J., Trella, K., Gorski, D., Gao, S., Li, J., Brounts, S., Galante, J., Plaas, A. :
Degenerative suspensory ligament desmitis (DSLD) in Peruvian Paso horses is characterized by altered expression of TGFβ signaling components in adipose-derived stromal fibroblasts. PLoS One 11:e0167069, 2016. Pubmed reference: 27902739. DOI: 10.1371/journal.pone.0167069.
2006 Halper, J., Kim, B., Khan, A., Yoon, J.H., Mueller, P.O. :
Degenerative suspensory ligament desmitis as a systemic disorder characterized by proteoglycan accumulation. BMC Vet Res 2:12, 2006. Pubmed reference: 16611357. DOI: 10.1186/1746-6148-2-12.

Edit History


  • Created by Frank Nicholas on 07 Dec 2016
  • Changed by Imke Tammen2 on 28 Oct 2022
  • Changed by Imke Tammen2 on 13 Jan 2023
  • Changed by Imke Tammen2 on 31 Aug 2023