A Genome-wide Association Study of Osteochondritis Dissecans in the Thoroughbred

Overview

Journal Mamm Genome

Specialty Genetics

Date 2011 Nov 5

PMID 22052004

Citations 15

Authors

Laura J Corbin

Sarah C Blott

June E Swinburne

Charlene Sibbons

Laura Y Fox-Clipsham

Maud Helwegen

Tim D H Parkin

J Richard Newton

Lawrence R Bramlage

C Wayne McIlwraith

Stephen C Bishop

John A Woolliams

Mark Vaudin

Affiliations

Soon will be listed here.

Abstract

Osteochondrosis is a developmental orthopaedic disease that occurs in horses, other livestock species, companion animal species, and humans. The principal aim of this study was to identify quantitative trait loci (QTL) associated with osteochondritis dissecans (OCD) in the Thoroughbred using a genome-wide association study. A secondary objective was to test the effect of previously identified QTL in the current population. Over 300 horses, classified as cases or controls according to clinical findings, were genotyped for the Illumina Equine SNP50 BeadChip. An animal model was first implemented in order to adjust each horse's phenotypic status for average relatedness among horses and other potentially confounding factors which were present in the data. The genome-wide association test was then conducted on the residuals from the animal model. A single SNP on chromosome 3 was found to be associated with OCD at a genome-wide level of significance, as determined by permutation. According to the current sequence annotation, the SNP is located in an intergenic region of the genome. The effects of 24 SNPs, representing QTL previously identified in a sample of Hanoverian Warmblood horses, were tested directly in the animal model. When fitted alongside the significant SNP on ECA3, two of these SNPs were found to be associated with OCD. Confirmation of the putative QTL identified on ECA3 requires validation in an independent sample. The results of this study suggest that a significant challenge faced by equine researchers is the generation of sufficiently large data sets to effectively study complex diseases such as osteochondrosis.

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