Evidence map›Paper›PMID 34696794›Full record

ArticleBMC veterinary research2021

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

Thomas Druml, Gottfried Brem, Brandon Velie, Gabriella Lindgren, Michaela Horna, Anne Ricard, Gertrud Grilz-Seger

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC veterinary research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Beyond black and white: dissecting the genetic basis of skin depigmentation in Nellore cattle.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Article
  2. Review
  3. Article
  4. Article
  5. Equine intraocular melanocytic neoplasia.The Canadian veterinary journal = La revue veterinaire canadienne · 2024
    Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 5 institutions in 7 countries.

Thomas DrumlInstitute of Animal Breeding and Genetics, University of Veterinary sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria. thomas.druml@gmx.at.
Gottfried BremInstitute of Animal Breeding and Genetics, University of Veterinary sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
Brandon VelieEquine Genetics & Genomics Group, School of Life & Environmental Sciences, University of Sydney, Sydney, Australia.
Gabriella LindgrenDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences Uppsala, Uppsala, Sweden.
Michaela HornaDepartment of Animal Husbandry, Slovak University of Agriculture in Nitra, Nitra, Slovakia.
Anne RicardGABI, INRAE, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
Gertrud Grilz-SegerInstitute of Animal Breeding and Genetics, University of Veterinary sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
University of Veterinary Medicine Vienna · ATInstitut de Recherche pour le Développement · BJKU Leuven · BESlovak University of Agriculture · SKUniversity of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn 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.

methodsIn 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.

resultsWe 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.

conclusionsThe 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.

Indexed as

AnimalsGene Expression RegulationGenetic Predisposition to DiseaseGenotypeHorse DiseasesHorsesImmunity, InnateMelanomaNeoplasm MetastasisPigmentation DisordersPolymorphism, Single NucleotidePrevalenceGWASLipizzan horseMelanomaTumor metastasisVitiligo

Identifiers

PMID34696794
PMCPMC8543801
OpenAlexW3207978698

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.