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Journal of Heredity Advance Access originally published online on March 20, 2009
Journal of Heredity 2009 100(4):481-486; doi:10.1093/jhered/esp006
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© The American Genetic Association. 2009. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.

Brief Communications

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

Catherine Wittwer, Henning Hamann, and Ottmar Distl

From the Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation Bünteweg 17p, 30559 Hannover, Germany

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

A whole-genome scan for radiological signs of osteochondrosis (OC) and osteochondrosis dissecans (OCD) in South German Coldblood (SGC) horses using 250 microsatellite markers identified a genome-wide significant quantitative trait locus (QTL) for fetlock OCD and a chromosome-wide QTL for hock OC on Equus caballus chromosome (ECA) 18 at a relative position of 45.9–78.2 cM. The aim of this study was to analyze associations of single-nucleotide polymorphisms (SNPs) in candidate genes for OC in this QTL region using 96 SGC horses. The OC-QTL on ECA18 could be confirmed and narrowed down to an interval of 13 Mb between GALNT13 and Xin actin-binding repeat containing 2 (XIRP2). SNPs in the XIRP2 gene were significantly associated with fetlock OC, fetlock OCD, and hock OC. The significant associations of SNPs in XIRP2 could be confirmed in linear animal models controlling for systematic environmental and residual quantitative genetic effects. The significant additive genetic effects of the intronic SNPs (AJ885515 [GenBank] :g.159A>G, AJ885515 [GenBank] :g.445T>C) in XIRP2 were 0.15 (P = 0.01) for fetlock OC, 0.27 (P = 0.01) for fetlock OCD, and 0.15–0.16 (P = 0.01–0.02) for hock OC. Homozygous (A/A or T/T) and heterozygous horses were at a 1.3- to 2.4-fold higher risk for fetlock and hock OC. These results suggest that dominant variants of XIRP2 may be involved in pathogenesis of equine OC.

Key Words: association analysishorseosteochondrosissingle-nucleotide polymorphismsXIRP2


Corresponding Editor: Ernest Bailey

Received December 30, 2008
Revised February 3, 2009
Accepted February 18, 2009


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J ANIM SCIHome page
V. Lampe, C. Dierks, K. Komm, and O. Distl
Identification of a new quantitative trait locus on equine chromosome 18 responsible for osteochondrosis in Hanoverian warmblood horses
J Anim Sci, November 1, 2009; 87(11): 3477 - 3481.
[Abstract] [Full Text] [PDF]



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