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Home / Equine Research Bank / Anim Genet / Genome-wide association analysis of osteochondrosis of the t...
Animal genetics2010; 41 Suppl 2; 111-120; doi: 10.1111/j.1365-2052.2010.02117.x

Genome-wide association analysis of osteochondrosis of the tibiotarsal joint in Norwegian Standardbred trotters.

Abstract: Osteochondrosis (OC), a disturbance in the process of endochondral ossification, is by far the most important equine developmental orthopaedic disease and is also common in other domestic animals and humans. The purpose of this study was to identify quantitative trait loci (QTL) associated with osteochondrosis dissecans (OCD) at the intermediate ridge of the distal tibia in Norwegian Standardbred (SB) using the Illumina Equine SNP50 BeadChip whole-genome single-nucleotide polymorphism (SNP) assay. Radiographic data and blood samples were obtained from 464 SB yearlings. Based on the radiographic examination, 162 horses were selected for genotyping; 80 of these were cases with an OCD at the intermediate ridge of the distal tibia, and 82 were controls without any developmental lesions in the joints examined. Genotyped horses descended from 22 sires, and the number of horses in each half-sib group ranged from 3 to 14. The population structure necessitated statistical correction for stratification. When conducting a case-control genome-wide association study (GWAS), mixed-model analyses displayed regions on chromosomes (Equus callabus chromosome - ECA) 5, 10, 27 and 28 that showed moderate evidence of association (P ≤ 5 × 10(-5); this P-value is uncorrected i.e. not adjusted for multiple comparisons) with OCD in the tibiotarsal joint. Two SNPs on ECA10 represent the most significant hits (uncorrected P=1.19 × 10(-5) in the mixed-model). In the basic association (chi-square) test, these SNPs achieved statistical significance with the Bonferroni correction (P=0.038) and were close in the permuted logistic regression test (P=0.054). Putative QTL on ECA 5, 10, 27 and 28 represent interesting areas for future research, validation studies and fine mapping of candidate regions. Results presented here represent the first GWAS of OC in horses using the recently released Illumina Equine SNP50 BeadChip.
© 2010 The Authors, Journal compilation © 2010 Stichting International Foundation for Animal Genetics.
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Publication Date: 2010-11-26 PubMed ID: 21070284DOI: 10.1111/j.1365-2052.2010.02117.xGoogle Scholar: Lookup
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  • U.S. Gov't
  • Non-P.H.S.

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.

The research involved a genomic study to identify genetic regions associated with Osteochondrosis (OC), a main equine developmental orthopedic disease, in Norwegian Standardbred trotters. It utilized advanced genomic analysis methods and could potentially aid in future research and mapping of genetic regions connected to the disease.

Understanding the Research Purpose and Subject

  • The research focused on Osteochondrosis (OC), a disease affecting the bone development process and commonly found in horses, domestic animals and humans.
  • The study specifically identified genetic regions or Quantitative Trait Loci (QTL) linked with Osteochondrosis dissecans (OCD) in the lower leg bone (tibia) of Norwegian Standardbred trotters. OCD is a form of OC that affects a specific area in the tibia.
  • A SNP (Single Nucleotide Polymorphism) assay using the Illumina Equine SNP50 BeadChip was used for the genomic study.

Methodology and Participant Selection

  • Blood samples and radiographic data were gathered from 464 yearling Standardbreds.
  • 162 horses with varying conditions were selected for genotyping: 80 showed OCD symptoms in the tibia, and 82 were healthy controls without any developmental lesions.
  • The genotyped horses were offspring of 22 different sires, each producing a group of 3 to 14 half-siblings. This varied ancestry required statistical correction for stratification.

Study Findings and Significance

  • Genome-wide association study (GWAS) was conducted, showing regions on chromosomes 5, 10, 27 and 28 with potential association with OCD in the tibiotarsal joint.
  • Particularly, two SNPs on chromosome 10 (ECA10) showed the most significant association.
  • The statistical significance of these SNPs was confirmed through a chi-square test, achieving a Bonferroni corrected value of 0.038 and a near significance in permuted logistic regression test (P=0.054).
  • The identified regions on chromosomes 5, 10, 27, and 28 are promising areas for further research, validation studies, and finer mapping of candidate regions.
  • The study is the first genome-wide association study (GWAS) of OC in horses to use the newly introduced Illumina Equine SNP50 BeadChip, making it a pivotal research work in the field.

Cite This Article

APA
Lykkjen S, Dolvik NI, McCue ME, Rendahl AK, Mickelson JR, Roed KH. (2010). Genome-wide association analysis of osteochondrosis of the tibiotarsal joint in Norwegian Standardbred trotters. Anim Genet, 41 Suppl 2, 111-120. https://doi.org/10.1111/j.1365-2052.2010.02117.x

Publication

Animal genetics
ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 41 Suppl 2
Pages: 111-120

Researcher Affiliations

Lykkjen, S
  • The Norwegian School of Veterinary Science, Department of Basic Sciences and Aquatic Medicine, Post-box 8146 Dep., N-0033 Oslo, Norway. sigrid.lykkjen@nvh.no
Dolvik, N I
    McCue, M E
      Rendahl, A K
        Mickelson, J R
          Roed, K H

            MeSH Terms

            • Animals
            • Female
            • Genome-Wide Association Study
            • Horse Diseases / genetics
            • Horse Diseases / pathology
            • Horses
            • Male
            • Osteochondrosis / genetics
            • Osteochondrosis / pathology
            • Osteochondrosis / veterinary
            • Polymorphism, Single Nucleotide
            • Quantitative Trait Loci
            • Tarsal Joints / pathology

            Citations

            This article has been cited 21 times.
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