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Mammalian genome : official journal of the International Mammalian Genome Society2011; 22(9-10); 613-620; doi: 10.1007/s00335-011-9337-3

Results of a haplotype-based GWAS for recurrent laryngeal neuropathy in the horse.

Abstract: Recurrent laryngeal neuropathy (RLN) is a major upper-airway disease of horses that causes abnormal respiratory noise during exercise and can impair performance. Etiopathogenesis remains unclear but genetic factors have been suspected for many decades. The objective of this study was to identify risk loci associated with RLN. To that end we genotyped 234 cases (196 Warmbloods, 20 Trotters, 14 Thoroughbreds, and 4 Draft horses), 228 breed-matched controls, and 69 parents with the Illumina Equine SNP50 BeadChip. Using these data, we quantified population structure and performed single-marker and haplotype-based association studies, as well as family-based linkage analyses. We accounted for population stratification by modeling a random polygenic background effect with covariance structure estimated from genome-wide SNP data. Using the haplotype-based approach, we identified two genome-wide suggestive loci in Warmbloods, respectively on chromosomes 21 (p = 1.62 × 10(-6)) and 31 (p = 1.69 × 10(-5)). The two signals were driven by the enrichment of a "protective" haplotype in controls compared to cases.
Publication Date: 2011-06-23 PubMed ID: 21698472DOI: 10.1007/s00335-011-9337-3Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • 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 study involves the use of genetic markers to find potential risk factors related to recurrent laryngeal neuropathy (RLN), a major respiratory disease in horses. The identified protective genetic sequences could help to prevent RLN in horses.

Research Methodology

  • Researchers genotyped 234 cases (i.e., horses with RLN) and 228 breed-matched controls (i.e., horses without RLN). Horses from different breeds, such as Warmbloods, Trotters, Thoroughbreds, and Draft horses, were included.
  • To avoid population bias or stratification (such as breed-specific traits), a random polygenic background effect was modeled with a covariance structure estimated from genome-wide SNP (Single nucleotide polymorphisms) data.
  • The team performed single-marker and haplotype-based association studies, as well as family-based linkage analyses, to find the genetic markers that correlate with the presence of RLN in horses.

Key Findings

  • The haplotype-based approach identified two genome-wide suggestive loci in Warmbloods, on chromosomes 21 and 31, which showed a statistical link to RLN. The statistical value, or p-value, for these loci were 1.62 × 10(-6) and 1.69 × 10(-5) respectively, indicating a likely non-random association.
  • An interesting observation was that these two signals were driven by the enrichment of a “protective” haplotype in the control group compared to the cases. This suggests that the horses with this particular genetic sequence had a lower risk of developing RLN.

Implications and further research

  • This study provides preliminary evidence towards the genetic basis of RLN. Identification of potential risk loci can provide insight into the genetic etiology of the disease which has been unclear for many years.
  • The protective haplotypes identified in this study could serve as a starting point for developing preventive strategies or therapeutic interventions for RLN in horses.
  • While suggestive, these findings would benefit from replication in additional, larger samples of horses of varying breeds. This can help confirm their association with RLN, and if any such association is breed-specific or universal.

Cite This Article

APA
Dupuis MC, Zhang Z, Druet T, Denoix JM, Charlier C, Lekeux P, Georges M. (2011). Results of a haplotype-based GWAS for recurrent laryngeal neuropathy in the horse. Mamm Genome, 22(9-10), 613-620. https://doi.org/10.1007/s00335-011-9337-3

Publication

ISSN: 1432-1777
NlmUniqueID: 9100916
Country: United States
Language: English
Volume: 22
Issue: 9-10
Pages: 613-620

Researcher Affiliations

Dupuis, Marie-Capucine
  • Unit of Animal Genetics, GIGA-Research, Faculty of Veterinary Medicine, University of Liège, 1 avenue de l'hôpital, B-4000 Liège, Belgium.
Zhang, Zhiyan
    Druet, Tom
      Denoix, Jean-Marie
        Charlier, Carole
          Lekeux, Pierre
            Georges, Michel

              MeSH Terms

              • Alleles
              • Animals
              • Chromosomes, Mammalian
              • Female
              • Gene Frequency
              • Genetic Predisposition to Disease
              • Genome-Wide Association Study
              • Haplotypes
              • Horse Diseases / genetics
              • Horses
              • Laryngeal Diseases / genetics
              • Laryngeal Diseases / veterinary
              • Male
              • Mononeuropathies / genetics
              • Mononeuropathies / veterinary
              • Polymorphism, Single Nucleotide

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