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BMC veterinary research2021; 17(1); 336; doi: 10.1186/s12917-021-03046-x

Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis.

Abstract: In horses, the autoimmune disease vitiligo is characterized by the loss of melanocytes and results in patchy depigmentation of the skin around the eyes, muzzle and the perianal region. Vitiligo-like depigmentation occurs predominantly in horses displaying the grey coat colour and is observed at a prevalence level of 26.0-67.0% in grey horses compared with only 0.8-3.5% in non-grey horses. While the polygenetic background of this complex disease is well documented in humans, the underlying candidate genes for this skin disorder in horses remain unknown. In this study we aim to perform a genome-wide association study (GWAS) for identifying putative candidate loci for vitiligo-like depigmentation in horses. Methods: In the current study, we performed a GWAS analysis using high-density 670 k single nucleotide polymorphism (SNP) data from 152 Lipizzan and 104 Noriker horses, which were phenotyped for vitiligo-like depigmentation by visual inspection. After quality control 376,219 SNPs remained for analyses, the genome-wide Bonferroni corrected significance level was p < 1.33e-7. Results: We identified seven candidate genes on four chromosomes (ECA1, ECA13, ECA17, ECA20) putatively involved in vitiligo pathogenesis in grey horses. The highlighted genes PHF11, SETDB2, CARHSP1 and LITAFD, are associated with the innate immune system, while the genes RCBTB1, LITAFD, NUBPL, PTP4A1, play a role in tumor suppression and metastasis. The antagonistic pathogenesis of vitiligo in relation to cancer specific enhanced cell motility and/or metastasis on typical melanoma predilection sites underlines a plausible involvement of RCBTB1, LITAFD, NUBPL, and PTP4A1. Conclusions: The proposed candidate genes for equine vitiligo-like depigmentation, indicate an antagonistic relation between vitiligo and tumor metastasis in a horse population with higher incidence of melanoma. Further replication and expression studies should lead to a better understanding of this skin disorder in horses.
© 2021. The Author(s).
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Publication Date: 2021-10-25 PubMed ID: 34696794PubMed Central: PMC8543801DOI: 10.1186/s12917-021-03046-xGoogle Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article presents the results of a study that aimed to identify the genes involved in the onset of vitiligo-like skin depigmentation in grey horses, which is a higher prevalence compared to non-grey horses. The findings propose an antagonistic link between vitiligo and tumor metastasis in a horse population with a higher incidence of melanoma.

Study Objective and Methodology

  • The researchers set out to perform a genome-wide association study (GWAS) to identify potential candidate genes responsible for vitiligo-like depigmentation in horses. This came out of the observation that this condition is predominant in grey horses, with a health prevalence of up to 67%, compared to a maximum of 3.5% in non-grey horses.
  • To carry out this study, the team used high-density 670k single nucleotide polymorphism (SNP) data from a sample of 256 horses, compromised of 152 Lipizzan and 104 Noriker horses. These animals were phenotypically characterized for vitiligo-like depigmentation through visual inspection. Following quality control measures, the team analyzed 376,219 SNPs utilizing a genome-wide Bonferroni corrected significance level of p < 1.33e-7.

Findings

  • The study produced seven candidate genes on four chromosomes (ECA1, ECA13, ECA17, ECA20) that are potentially implicated in the occurrence of vitiligo in grey horses.
  • These identified genes, comprising of PHF11, SETDB2, CARHSP1, LITAFD, RCBTB1, NUBPL, PTP4A1, displayed connections with either the immune system or played roles in tumor suppression and metastasis.
  • Among these, PHF11, SETDB2, CARHSP1, and LITAFD are associated with the body’s innate immune response. Conversely, RCBTB1, LITAFD, NUBPL, PTP4A1 are known for their roles in controlling tumor growth and the spread (metastasis) of tumors.

Conclusions and Implications

  • The results suggest a plausible antagonistic relationship between vitiligo and tumor metastasis, particularly within a horse population that has a higher rate of melanoma.
  • The study recommends further research, especially replication and expression studies, to gain a clearer understanding of vitiligo-like depigmentation in horses.
  • If validated by future research, these initial findings could prove helpful for therapeutic interventions, not only in grey horses suffering from this skin disorder but potentially in human vitiligo and tumor metastasis understandings.

Cite This Article

APA
Druml T, Brem G, Velie B, Lindgren G, Horna M, Ricard A, Grilz-Seger G. (2021). Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis. BMC Vet Res, 17(1), 336. https://doi.org/10.1186/s12917-021-03046-x

Publication

BMC veterinary research
ISSN: 1746-6148
NlmUniqueID: 101249759
Country: England
Language: English
Volume: 17
Issue: 1
Pages: 336
PII: 336

Researcher Affiliations

Druml, Thomas
  • Institute of Animal Breeding and Genetics, University of Veterinary sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria. thomas.druml@gmx.at.
Brem, Gottfried
  • Institute of Animal Breeding and Genetics, University of Veterinary sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
Velie, Brandon
  • Equine Genetics & Genomics Group, School of Life & Environmental Sciences, University of Sydney, Sydney, Australia.
Lindgren, Gabriella
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences Uppsala, Uppsala, Sweden.
  • Livestock Genetics, Department of Biosystems, KU Leuven, Leuven, Belgium.
Horna, Michaela
  • Department of Animal Husbandry, Slovak University of Agriculture in Nitra, Nitra, Slovakia.
Ricard, Anne
  • GABI, INRAE, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
  • Pôle Développement Innovation Recherche, IFCE, 61310, Gouffern en Auge, France.
Grilz-Seger, Gertrud
  • Institute of Animal Breeding and Genetics, University of Veterinary sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.

MeSH Terms

  • Animals
  • Gene Expression Regulation / immunology
  • Genetic Predisposition to Disease
  • Genotype
  • Horse Diseases / genetics
  • Horse Diseases / pathology
  • Horses
  • Immunity, Innate / genetics
  • Melanoma / genetics
  • Melanoma / pathology
  • Melanoma / veterinary
  • Neoplasm Metastasis / genetics
  • Pigmentation Disorders / genetics
  • Pigmentation Disorders / veterinary
  • Polymorphism, Single Nucleotide
  • Prevalence

Conflict of Interest Statement

The authors declare that there are no competing interests.

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