PMID- 19042922
OWN - NLM
STAT- MEDLINE
DCOM- 20100721
LR  - 20090707
IS  - 1473-0480 (Electronic)
IS  - 0306-3674 (Linking)
VI  - 43
IP  - 7
DP  - 2009 Jul
TI  - Variants within the MMP3 gene are associated with Achilles tendinopathy: possible 
      interaction with the COL5A1 gene.
PG  - 514-20
LID - 10.1136/bjsm.2008.053892 [doi]
AB  - OBJECTIVES: Sequence variation within the COL5A1 and TNC genes are known to 
      associate with Achilles tendinopathy. The primary aim of this case-control 
      genetic association study was to investigate whether variants within the matrix 
      metalloproteinase 3 (MMP3) gene also contributed to both Achilles tendinopathy 
      and Achilles tendon rupture in a Caucasian population. A secondary aim was to 
      establish whether variants within the MMP3 gene interacted with the COL5A1 
      rs12722 variant to raise risk of these pathologies. METHODS: 114 subjects with 
      symptoms of Achilles tendon pathology and 98 healthy controls were genotyped for 
      MMP3 variants rs679620, rs591058 and rs650108. RESULTS: As single markers, 
      significant associations were found between the GG genotype of rs679620 (OR = 
      2.5, 95% CI 1.2 to 4.90, p = 0.010), the CC genotype of rs591058 (OR = 2.3, 95% 
      CI 1.1 to 4.50, p = 0.023) and the AA genotype of rs650108 (OR = 4.9, 95% CI 1.0 
      to 24.1, p = 0.043) and risk of Achilles tendinopathy. The ATG haplotype 
      (rs679620, rs591058, and rs650108) was under-represented in the tendinopathy 
      group when compared to the control group (41% vs 53%, p = 0.038). Finally, the G 
      allele of rs679620 and the T allele of COL5A1 rs12722 significantly interacted to 
      raise risk of AT (p = 0.006). No associations were found between any of the MMP3 
      markers and Achilles tendon rupture. CONCLUSION: Variants within the MMP3 gene 
      are associated with Achilles tendinopathy. Furthermore, the MMP3 gene variant 
      rs679620 and the COL5A1 marker rs12722 interact to modify the risk of 
      tendinopathy. These data further support a genetic contribution to a common 
      sports related injury.
FAU - Raleigh, S M
AU  - Raleigh SM
AD  - Division of Health and Life Sciences, University of Northampton, Park Campus, 
      Boughton Green Road, Northampton NN2 7AL, UK. Stuart.Raleigh@northampton.ac.uk
FAU - van der Merwe, L
AU  - van der Merwe L
FAU - Ribbans, W J
AU  - Ribbans WJ
FAU - Smith, R K W
AU  - Smith RK
FAU - Schwellnus, M P
AU  - Schwellnus MP
FAU - Collins, M
AU  - Collins M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20081128
PL  - England
TA  - Br J Sports Med
JT  - British journal of sports medicine
JID - 0432520
RN  - 0 (COL5A1 protein, human)
RN  - 0 (Collagen Type V)
RN  - EC 3.4.24.17 (Matrix Metalloproteinase 3)
SB  - IM
MH  - *Achilles Tendon
MH  - Adult
MH  - Case-Control Studies
MH  - Collagen Type V/*genetics
MH  - Epistasis, Genetic
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Matrix Metalloproteinase 3/*genetics
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Tendinopathy/*genetics
EDAT- 2008/12/02 09:00
MHDA- 2010/07/22 06:00
CRDT- 2008/12/02 09:00
PHST- 2008/12/02 09:00 [pubmed]
PHST- 2010/07/22 06:00 [medline]
PHST- 2008/12/02 09:00 [entrez]
AID - bjsm.2008.053892 [pii]
AID - 10.1136/bjsm.2008.053892 [doi]
PST - ppublish
SO  - Br J Sports Med. 2009 Jul;43(7):514-20. doi: 10.1136/bjsm.2008.053892. Epub 2008 
      Nov 28.