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

Druml, Thomas and Brem, Gottfried and Velie, Brandon and Lindgren, Gabriella and Horna, Michaela and Ricard, Anne and Grilz-Seger, Gertrud (2021). Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis. BMC Veterinary Research. 17 , 336
[Research article]

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Abstract

Background 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.

Authors/Creators:Druml, Thomas and Brem, Gottfried and Velie, Brandon and Lindgren, Gabriella and Horna, Michaela and Ricard, Anne and Grilz-Seger, Gertrud
Title:Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis
Series Name/Journal:BMC Veterinary Research
Year of publishing :2021
Volume:17
Article number:336
Number of Pages:12
Publisher:BMC
ISSN:1746-6148
Language:English
Publication Type:Research article
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 1 Natural sciences > 106 Biological Sciences (Medical to be 3 and Agricultural to be 4) > Genetics (medical genetics to be 30107 and agricultural genetics to be 40402)
Keywords:Vitiligo, Lipizzan horse, GWAS, Melanoma, Tumor metastasis
URN:NBN:urn:nbn:se:slu:epsilon-p-114252
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-114252
Additional ID:
Type of IDID
DOI10.1186/s12917-021-03046-x
Web of Science (WoS)000710962500001
ID Code:26020
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:04 Nov 2021 13:25
Metadata Last Modified:04 Nov 2021 13:31

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