ArticleBMC genetics2018
Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity.
Article in BMC genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 42 citations in OpenAlex.
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- Whole-Genome Resequencing Analysis of Copy Number Variations Associated with Athletic Performance in Grassland-Thoroughbred.Animals : an open access journal from MDPI · 2025Article
- Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle.BMC genomics · 2024Article
- Genome-wide association studies for economically important traits in mink using copy number variation.Scientific reports · 2024Article
- Genome-wide copy number variation detection in a large cohort of diverse horse breeds by whole-genome sequencing.Frontiers in veterinary science · 2023Article
- Advancements in copy number variation screening in herbivorous livestock genomes and their association with phenotypic traits.Frontiers in veterinary science · 2023Review
- Identification of Copy Number Variations in Four Horse Breed Populations in South Korea.Animals : an open access journal from MDPI · 2022Article
- Copy Number Variation (CNV): A New Genomic Insight in Horses.Animals : an open access journal from MDPI · 2022Article
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- CNVs with adaptive potential inLife science alliance · 2022Article
- DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.Biomedical journal · 2021Review
- A genome-wide scan of copy number variants in three Iranian indigenous river buffaloes.BMC genomics · 2021Article
- Copy Number Variants in Four Italian Turkey Breeds.Animals : an open access journal from MDPI · 2021Article
- A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing.BMC genomics · 2021Article
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- Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.BMC genomics · 2019Article
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- Expression analysis of miR-221-3p and its target genes in horses.Genes & genomics · 2019Article
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Authors and funding
12 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMany common and relevant diseases affecting equine welfare have yet to be tested regarding structural variants such as copy number variations (CNVs). CNVs make up a substantial proportion of total genetic variability in populations of many species, resulting in more sequence differences between individuals than SNPs. Associations between CNVs and disease phenotypes have been established in several species, but equine CNV studies have been limited. Aim of this study was to identify CNVs and to perform a genome-wide association (GWA) study in Friesian horses to identify genomic loci associated with insect bite hypersensitivity (IBH), a common seasonal allergic dermatitis observed in many horse breeds worldwide.
resultsGenotypes were obtained using the Axiom® Equine Genotyping Array containing 670,796 SNPs. After quality control of genotypes, 15,041 CNVs and 5350 CNV regions (CNVRs) were identified in 222 Friesian horses. Coverage of the total genome by CNVRs was 11.2% with 49.2% of CNVRs containing genes. 58.0% of CNVRs were novel (i.e. so far only identified in Friesian horses). A SNP- and CNV-based GWA analysis was performed, where about half of the horses were affected by IBH. The SNP-based analysis showed a highly significant association between the MHC region on ECA20 and IBH in Friesian horses. Associations between the MHC region on ECA20 and IBH were also detected based on the CNV-based analysis. However, CNVs associated with IBH in Friesian horses were not often in close proximity to SNPs identified to be associated with IBH.
conclusionsCNVs were identified in a large sample of the Friesian horse population, thereby contributing to our knowledge on CNVs in horses and facilitating our understanding of the equine genome and its phenotypic expression. A clear association was identified between the MHC region on ECA20 and IBH in Friesian horses based on both SNP- and CNV-based GWA studies. These results imply that MHC contributes to IBH sensitivity in Friesian horses. Although subsequent analyses are needed for verification, nucleotide differences, as well as more complex structural variations like CNVs, seem to contribute to IBH sensitivity. IBH should be considered as a common disease with a complex genomic architecture.
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