PMID- 23906005
OWN - NLM
STAT- MEDLINE
DCOM- 20141210
LR  - 20140410
IS  - 2042-3306 (Electronic)
IS  - 0425-1644 (Linking)
VI  - 46
IP  - 3
DP  - 2014 May
TI  - Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial 
      digital flexor tendinopathy in National Hunt Thoroughbred racehorses.
PG  - 289-93
LID - 10.1111/evj.12134 [doi]
AB  - REASONS FOR PERFORMING THE STUDY: To explore whether genetic susceptibility is a 
      potential risk factor for superficial digital flexor (SDF) tendinopathy in 
      Thoroughbred (TB) racehorses. OBJECTIVES: To identify informative single 
      nucleotide polymorphisms (SNPs) that capture genetic diversity across a range of 
      candidate genes and to investigate, in a case-control study, their association 
      with SDF tendinopathy in UK National Hunt TB racehorses in training. STUDY 
      DESIGN: Case-control candidate gene association study. METHODS: This study used 
      in silico gene assembly and DNA sequencing to screen candidate genes for SNPs. 
      Seven candidate genes were selected using a hypothesis-driven approach: 
      tenascin-C (TNC), collagen, type 1, alpha 1 (COL1A1), collagen, type 5, alpha 1 (COL5A1), 
      matrix metalloproteinase type 3 (MMP3), matrix metalloproteinase type 13 (MMP13), 
      fibromodulin (FMOD) and cartilage oligomeric matrix protein (COMP). The SNPs were 
      validated in DNA isolated from 48 TB racehorses and used to genotype 270 
      racehorses with SDF tendinopathy and 270 yard-matched controls. Genotyping of 
      cases and controls was performed using SNaPshot. RESULTS: Racehorses 
      heterozygous for the TNC BIEC2-696469 polymorphism were less likely to have SDF 
      tendinopathy than racehorses homozygous for the wild-type allele (odds ratio [OR] 
      0.56, 95% confidence interval [CI] 0.36-0.85, P = 0.01). This finding remained 
      significant after adjustment for age and racing background (OR 0.57, 95% CI 
      0.36-0.92, P = 0.03). Racehorses homozygous for the novel COL5A1 COL5A1_01 
      variant allele were nearly 3 times more likely to have SDF tendinopathy than 
      those homozygous for the wild-type allele (OR 2.82, 95% CI 1.25-6.35, P = 0.01); 
      this association remained significant after adjustment for age and racing 
      background (OR 2.77, 95% CI 1.18-6.53, P = 0.03). CONCLUSIONS: Results suggest 
      that sequence variants in TNC and COL5A1 genes are associated with SDF 
      tendinopathy in TB racehorses. In future genetic markers may be used to identify 
      horses at risk of SDF tendinopathy.
CI  - (c) 2013 EVJ Ltd.
FAU - Tully, L J
AU  - Tully LJ
AD  - Royal Veterinary College, London, UK.
FAU - Murphy, A M
AU  - Murphy AM
FAU - Smith, R K W
AU  - Smith RK
FAU - Hulin-Curtis, S L
AU  - Hulin-Curtis SL
FAU - Verheyen, K L P
AU  - Verheyen KL
FAU - Price, J S
AU  - Price JS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130916
PL  - United States
TA  - Equine Vet J
JT  - Equine veterinary journal
JID - 0173320
RN  - 0 (Collagen Type V)
RN  - 0 (Tenascin)
SB  - IM
MH  - Animals
MH  - Case-Control Studies
MH  - Collagen Type V/genetics/*metabolism
MH  - Forelimb
MH  - Gene Expression Regulation
MH  - *Genetic Predisposition to Disease
MH  - Horse Diseases/*genetics
MH  - Horses
MH  - Male
MH  - *Polymorphism, Genetic
MH  - Tenascin/genetics/*metabolism
MH  - Tendinopathy/genetics/*veterinary
OTO - NOTNLM
OT  - candidate genes
OT  - genetics
OT  - horse
OT  - racehorse
OT  - superficial digital flexor tendon
OT  - tendon injury
EDAT- 2013/08/03 06:00
MHDA- 2014/12/15 06:00
CRDT- 2013/08/03 06:00
PHST- 2013/03/06 00:00 [received]
PHST- 2013/06/27 00:00 [accepted]
PHST- 2013/08/03 06:00 [entrez]
PHST- 2013/08/03 06:00 [pubmed]
PHST- 2014/12/15 06:00 [medline]
AID - 10.1111/evj.12134 [doi]
PST - ppublish
SO  - Equine Vet J. 2014 May;46(3):289-93. doi: 10.1111/evj.12134. Epub 2013 Sep 16.