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Schweizer Archiv fur Tierheilkunde2012; 154(1); 19-25; doi: 10.1024/0036-7281/a000288

Whole genome scan identifies several chromosomal regions linked to equine sarcoids.

Abstract: Despite the evidence for a genetic predisposition to develop equine sarcoids (ES), no whole genome scan for ES has been performed to date. The objective of this explorative study was to identify chromosome regions associated with ES. The studied population was comprised of two half-sibling sire families, involving a total of 222 horses. Twenty-six of these horses were affected with ES. All horses had been previously genotyped with 315 microsatellite markers. Quantitative trait locus (QTL) signals were suggested where the F statistic exceeded chromosome-wide significance at P < 0.05. The QTL analyses revealed significant signals reaching P < 0.05 on equine chromosome (ECA) 20, 23 and 25, suggesting a polygenic character for this trait. The candidate regions identified on ECA 20, 23 and 25 include genes regulating virus replication and host immune response. Further investigation of the chromosome regions associated with ES and of genes potentially responsible for the development of ES could form the basis for early identification of susceptible animals, breeding selection or the development of new therapeutic targets.
Publication Date: 2012-01-10 PubMed ID: 22222899DOI: 10.1024/0036-7281/a000288Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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The article presents a study that was aimed at identifying chromosomes that could be associated with the development of equine sarcoids (ES) – a common skin tumor in horses. The researchers used genetic information from a population of horses and found significant links between ES and specific regions on three different chromosomes.

Study objectives and population

  • The primary aim of this study was to highlight any chromosome regions possibly connected to equine sarcoids (ES). Despite past evidence suggesting ES has a genetic predisposition, no genome-wide scan for this condition had been carried out, making this investigation the first of its kind.
  • The researchers based their study on two half-sibling sire families which included a total of 222 horses. Out of these, 26 horses were suffering from ES.

Methodology and Results

  • Before the study, all the horses had been genotyped, that is, their genetic information had been recorded using 315 microsatellite markers. These markers are short, repeatable DNA sequences that serve as genetic landmarks.
  • After carrying out a quantitative trait locus (QTL) analysis, the study team discovered suggestive signals wherever the F statistic surpassingly exhibited chromosome-wide significance at P < 0.05. The F-statistic is a measure of significance in statistical hypothesis testing and p-value measures the strength of evidence in support of a hypothesis.
  • Significant QTL signals were identified on equine chromosomes (known as ECA) 20, 23 and 25. Therefore, the results propose a polygenic character for ES, meaning the disease trait could be affected by multiple genes.

Implications of the Research

  • The findings of this whole genome scan suggest that notable genes related to virus replication and immune response in the host are found in the most likely regions on ECA 20, 23 and 25.
  • This research serves as a foundation for future investigations into the chromosomal regions linked to ES, as well as the genes that could potentially cause the development of these horse skin tumors. Improved understanding of genetic predisposition to ES could help in the early identification of susceptible animals, better breeding selection or pinpointing new therapeutic targets to prevent or treat the condition.

Cite This Article

APA
Jandova V, Klukowska-Rötzler J, Dolf G, Janda J, Roosje P, Marti E, Koch C, Gerber V, Swinburne J. (2012). Whole genome scan identifies several chromosomal regions linked to equine sarcoids. Schweiz Arch Tierheilkd, 154(1), 19-25. https://doi.org/10.1024/0036-7281/a000288

Publication

ISSN: 0036-7281
NlmUniqueID: 0424247
Country: Switzerland
Language: English
Volume: 154
Issue: 1
Pages: 19-25

Researcher Affiliations

Jandova, Vendula
  • Equine Clinic, University of Berne. vendula.jandova@knp.unibe.ch
Klukowska-Rötzler, J
    Dolf, G
      Janda, J
        Roosje, P
          Marti, E
            Koch, C
              Gerber, V
                Swinburne, J

                  MeSH Terms

                  • Animals
                  • Female
                  • Genome-Wide Association Study / veterinary
                  • Genotype
                  • Horse Diseases / genetics
                  • Horses
                  • Leiomyoma / genetics
                  • Leiomyoma / veterinary
                  • Male
                  • Microsatellite Repeats
                  • Prevalence
                  • Quantitative Trait Loci
                  • Severity of Illness Index
                  • Skin Neoplasms / genetics
                  • Skin Neoplasms / veterinary

                  Citations

                  This article has been cited 6 times.
                  1. Liu ZQ, Lu MY, Sun RL, Yin ZN, Liu B, Wu YZ. Characteristics of Peripheral Immune Function in Reproductive Females with Uterine Leiomyoma. J Oncol 2019;2019:5935640.
                    doi: 10.1155/2019/5935640pubmed: 31772580google scholar: lookup
                  2. Unger L, Jagannathan V, Pacholewska A, Leeb T, Gerber V. Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression. J Vet Intern Med 2019 Jan;33(1):241-250.
                    doi: 10.1111/jvim.15375pubmed: 30506726google scholar: lookup
                  3. Wilson AD, Hicks C. Both tumour cells and infiltrating T-cells in equine sarcoids express FOXP3 associated with an immune-supressed cytokine microenvironment. Vet Res 2016 May 9;47(1):55.
                    doi: 10.1186/s13567-016-0339-8pubmed: 27160146google scholar: lookup
                  4. Vychodilova L, Plasil M, Futas J, Kopecka A, Molinkova D, Wijacki T, Jahn P, Knoll A, Horin P. Genetic susceptibility to sarcoid in Arabian horses: associations with MHC class II and compound MHC class I/KLRA genotypes. Vet Res Commun 2025 May 1;49(3):184.
                    doi: 10.1007/s11259-025-10748-2pubmed: 40310488google scholar: lookup
                  5. Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B. Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. Animals (Basel) 2025 Mar 22;15(7).
                    doi: 10.3390/ani15070911pubmed: 40218305google scholar: lookup
                  6. Beermann A, Clottu O, Reif M, Biegel U, Unger L, Koch C. A randomized placebo-controlled double-blinded study comparing oral and subcutaneous administration of mistletoe extract for the treatment of equine sarcoid disease. J Vet Intern Med 2024 May-Jun;38(3):1815-1824.
                    doi: 10.1111/jvim.17052pubmed: 38529853google scholar: lookup