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

Autor: Gabriella Lindgren, Anne Ricard, Michaela Horna, Gertrud Grilz-Seger, Brandon D. Velie, Gottfried Brem, Thomas Druml
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Candidate gene
Veterinary medicine
Genome-wide association study
MELANOMA
Vitiligo
Metastasis
Depigmentation
T-LYMPHOCYTES
SF600-1100
Prevalence
GWAS
Neoplasm Metastasis
Lipizzan horse
Melanoma
POPULATION
education.field_of_study
integumentary system
CHROMOSOME 13Q14
General Medicine
ASSOCIATION
medicine.symptom
Life Sciences & Biomedicine
EXPRESSION
MELANOCYTES
Genotype
Population
NONMELANOMA SKIN-CANCER
Single-nucleotide polymorphism
Biology
Polymorphism
Single Nucleotide
REGION
Genetics (medical genetics to be 30107 and agricultural genetics to be 40402)
medicine
Animals
Genetic Predisposition to Disease
Horses
Veterinary Sciences
education
Science & Technology
General Veterinary
Research
PATHWAYS
medicine.disease
Immunity
Innate
Gene Expression Regulation
Immunology
Horse Diseases
Pigmentation Disorders
Tumor metastasis
Zdroj: BMC Veterinary Research, Vol 17, Iss 1, Pp 1-12 (2021)
BMC Veterinary Research
Popis: 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 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.
Databáze: OpenAIRE
Externí odkaz: