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PloS one2016; 11(4); e0152966; doi: 10.1371/journal.pone.0152966

Using an Inbred Horse Breed in a High Density Genome-Wide Scan for Genetic Risk Factors of Insect Bite Hypersensitivity (IBH).

Abstract: While susceptibility to hypersensitive reactions is a common problem amongst humans and animals alike, the population structure of certain animal species and breeds provides a more advantageous route to better understanding the biology underpinning these conditions. The current study uses Exmoor ponies, a highly inbred breed of horse known to frequently suffer from insect bite hypersensitivity, to identify genomic regions associated with a type I and type IV hypersensitive reaction. A total of 110 cases and 170 controls were genotyped on the 670K Axiom Equine Genotyping Array. Quality control resulted in 452,457 SNPs and 268 individuals being tested for association. Genome-wide association analyses were performed using the GenABEL package in R and resulted in the identification of two regions of interest on Chromosome 8. The first region contained the most significant SNP identified, which was located in an intron of the DCC netrin 1 receptor gene. The second region identified contained multiple top SNPs and encompassed the PIGN, KIAA1468, TNFRSF11A, ZCCHC2, and PHLPP1 genes. Although additional studies will be needed to validate the importance of these regions in horses and the relevance of these regions in other species, the knowledge gained from the current study has the potential to be a step forward in unraveling the complex nature of hypersensitive reactions.
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Publication Date: 2016-04-12 PubMed ID: 27070818PubMed Central: PMC4829256DOI: 10.1371/journal.pone.0152966Google Scholar: Lookup
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  • Journal Article
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  • Non-U.S. Gov't

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.

This research study seeks to identify the genetic risk factors of insect bite hypersensitivity (IBH) in Exmoor ponies, a highly inbred breed of horse prone to such hypersensitive reactions. It identifies two genomic regions on Chromosome 8 that may be associated with the risk and severity of the condition.

Study Design and Methodology

  • The research focused on Exmoor ponies, chosen because of their susceptibility to insect bite hypersensitivity and high inbreeding, which likely intensifies the risk and allows for a more concentrated study of IBH causative factors.
  • The study involved 110 cases of ponies with IBH and 170 controls without the condition, all of whom underwent genotyping on a high-resolution genotyping array.
  • Quality control measures were put in place, resulting in 452,457 SNPs (single-nucleotide polymorphisms) and 268 individual pony DNA samples being tested for association with IBH.
  • The researchers conducted genome-wide association analyses with the GenABEL package in the R programming language.

Research Findings

  • Two regions of interest were identified on Chromosome 8 that could potentially be involved with IBH in Exmoor ponies.
  • The first region contained the most significant SNP, located in an intron (a non-coding region of a gene) of the DCC netrin 1 receptor gene.
  • The second region contained multiple top SNPs and encompassed the PIGN, KIAA1468, TNFRSF11A, ZCCHC2, and PHLPP1 genes.

Implications and Follow-up

  • These findings provide a better understanding of the genetic factors that may cause IBH, which could potentially further prevention and treatment in the future.
  • However, the results require validation through further studies—both to confirm their relevance to horses generally and to other species. If validated, these regions could be pivotal in unraveling the complex nature of hypersensitive reactions.
  • The information gathered in this study, while significant, is only a preliminary step in resolving the puzzle of hypersensitivity to insect bites in Exmoor ponies and potentially other animals.

Cite This Article

APA
Velie BD, Shrestha M, Franҫois L, Schurink A, Tesfayonas YG, Stinckens A, Blott S, Ducro BJ, Mikko S, Thomas R, Swinburne JE, Sundqvist M, Eriksson S, Buys N, Lindgren G. (2016). Using an Inbred Horse Breed in a High Density Genome-Wide Scan for Genetic Risk Factors of Insect Bite Hypersensitivity (IBH). PLoS One, 11(4), e0152966. https://doi.org/10.1371/journal.pone.0152966

Publication

PloS one
ISSN: 1932-6203
NlmUniqueID: 101285081
Country: United States
Language: English
Volume: 11
Issue: 4
Pages: e0152966
PII: e0152966

Researcher Affiliations

Velie, Brandon D
  • Department of Animal Breeding & Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Shrestha, Merina
  • Department of Animal Breeding & Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Franҫois, Liesbeth
  • Research Group Livestock Genetics, Department of Biosystems, KU Leuven, Leuven, Belgium.
Schurink, Anouk
  • Animal Breeding and Genomics Centre, Wageningen University, Wageningen, the Netherlands.
Tesfayonas, Yohannes G
  • Department of Animal Breeding & Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Stinckens, Anneleen
  • Research Group Livestock Genetics, Department of Biosystems, KU Leuven, Leuven, Belgium.
Blott, Sarah
  • School of Veterinary Medicine & Science, University of Nottingham, Leicestershire, United Kingdom.
Ducro, Bart J
  • Animal Breeding and Genomics Centre, Wageningen University, Wageningen, the Netherlands.
Mikko, Sofia
  • Department of Animal Breeding & Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Thomas, Ruth
  • Exmoor Pony Society, Cullompton, United Kingdom.
Swinburne, June E
  • Animal DNA Diagnostics Ltd, Cambridgeshire, United Kingdom.
  • Animal Health Trust, Newmarket, United Kingdom.
Sundqvist, Marie
  • Östra Greda Research Group, Borgholm, Sweden.
Eriksson, Susanne
  • Department of Animal Breeding & Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Buys, Nadine
  • Research Group Livestock Genetics, Department of Biosystems, KU Leuven, Leuven, Belgium.
Lindgren, Gabriella
  • Department of Animal Breeding & Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.

MeSH Terms

  • Animals
  • Female
  • Genes, DCC
  • Genome-Wide Association Study
  • Horse Diseases / genetics
  • Horse Diseases / immunology
  • Horses / genetics
  • Horses / immunology
  • Hypersensitivity / genetics
  • Hypersensitivity / immunology
  • Hypersensitivity / veterinary
  • Inbreeding
  • Insect Bites and Stings / genetics
  • Insect Bites and Stings / immunology
  • Insect Bites and Stings / veterinary
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / immunology
  • Skin Diseases, Genetic / veterinary

Conflict of Interest Statement

The authors have the following interests. June E Swinburne is employed by Animal DNA Diagnostics Ltd. There are no patents, products in development or marketed products to declare. This does not alter the authors’ adherence to all the PLOS ONE policies on sharing data and materials, as detailed online in the guide for authors.

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