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Journal of Heredity Advance Access published online on January 27, 2008

Journal of Heredity, doi:10.1093/jhered/esm106
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© The American Genetic Association. 2008. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.

Associations between Candidate Gene Markers at a Quantitative Trait Locus on Equine Chromosome 4 Responsible for Osteochondrosis Dissecans in Fetlock Joints of South German Coldblood Horses

Catherine Wittwer, Claudia Dierks, Henning Hamann, and Ottmar Distl

From the Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Bünteweg 17p, 30559 Hannover, Germany (Wittwer, Dierks, Hamann, and Distl)

Address correspondence to O. Distl at the address above, or e-mail: ottmar.distl{at}tiho-hannover.de.

A previously accomplished whole-genome scan for osteochondrosis (OC) and OC dissecans (OCD) in South German Coldblood horses using 250 microsatellite markers identified putative quantitative trait loci (QTL). A chromosome-wide significant QTL for fetlock OCD was found on Equus caballus chromosome (ECA) 4q at a relative position of 70.0–73.3 cM. The aim of this study was to analyze associations of single nucleotide polymorphisms (SNPs) in candidate genes for OC in this region. The association analysis included 32 affected and 64 unaffected horses. Three SNPs located in intron 8, intron 9, and 3'-untranslated region (UTR) of the acyloxyacyl hydrolase (AOAH) gene on ECA4q were significantly associated with OCD in fetlock joints. In order to control for systematic environmental and quantitative genetic effects, we employed a linear animal model. The association of the SNP (AJ543065:g.703A>G) in the 3'-UTR of exon 21 was confirmed in the animal model analysis and a significant additive genetic effect for fetlock OCD of 0.42 (P = 0.002) and a dominance effect of –0.32 (P = 0.03) was estimated. This is the first report on a marker in population-wide linkage disequilibrium with equine OCD in fetlock joints.


Corresponding Editor: Ernest Bailey

Received December 8, 2006
Accepted October 26, 2007


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C. Wittwer, H. Hamann, and O. Distl
The Candidate Gene XIRP2 at a Quantitative Gene Locus on Equine Chromosome 18 Associated with Osteochondrosis in Fetlock and Hock Joints of South German Coldblood Horses
J. Hered., July 1, 2009; 100(4): 481 - 486.
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