MMP3 and TIMP2 gene variants as predisposing factors for Achilles tendon pathologies: Attempted replication study in a British case-control cohort

Louis El Khoury, William J Ribbans, Stuart M Raleigh

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Abstract

Variants within the MMP3 (rs679620) and TIMP2 (rs4789932) genes have been associated with the risk of Achilles tendon pathology (ATP) in populations from South Africa and Australia. This study aimed to determine whether these variants were associated with the risk of ATP in British Caucasians. We recruited 118 cases with ATP, including a subset of 25 individuals with Achilles tendon rupture (RUP) and 131 controls. DNA samples were isolated from saliva and genotyped using qPCR. For the TIMP2 rs4789932 variant we found a significant (p = 0.038) difference in the genotype distribution frequency between males with ATP (CC, 39.4%; CT, 43.7%; TT, 16.9%) compared to male controls (CC, 20.7%; CT, 59.8%; TT, 19.5%). We also observed a difference in the TIMP2 rs4789932 genotype distribution between males with rupture compared to male controls (p = 0.038). The MMP3 rs679620 GG genotype was found to be overrepresented in the Achilles tendon rupture (RUP) group (AA, 24.0%; AG, 32.0%; GG, 44.0%) compared to controls (AA, 26.7%; AG, 54.2%; GG, 19.1%). In conclusion, the CT genotype of the TIMP2 rs4789932 variant was associated with lower risk of ATP in males. Furthermore, while we revealed differences for both variants in genotype distribution between the RUP and control groups, the sample size of the RUP group was small and confirmation would be required in additional cohorts. Finally, although both the TIMP2 rs4789932 and MMP3 rs679620 variants tentatively associated with ATP, there were differences in the direction of association compared to earlier work.

Original languageEnglish
Pages (from-to)52-55
Number of pages4
JournalMeta Gene
Volume9
Early online date30 Mar 2016
DOIs
Publication statusPublished - Sep 2016
Externally publishedYes

Fingerprint

Achilles Tendon
Causality
Pathology
Rupture
Genotype
Genes
South Australia
South Africa
Saliva
Sample Size
Control Groups
DNA

Keywords

  • Tendon rupture
  • qPCR
  • RUP
  • ATP
  • TIMP2
  • MMP3
  • Achilles tendon

Cite this

MMP3 and TIMP2 gene variants as predisposing factors for Achilles tendon pathologies : Attempted replication study in a British case-control cohort. / El Khoury, Louis; Ribbans, William J; Raleigh, Stuart M.

In: Meta Gene, Vol. 9, 09.2016, p. 52-55.

Research output: Contribution to journalArticle

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title = "MMP3 and TIMP2 gene variants as predisposing factors for Achilles tendon pathologies: Attempted replication study in a British case-control cohort",
abstract = "Variants within the MMP3 (rs679620) and TIMP2 (rs4789932) genes have been associated with the risk of Achilles tendon pathology (ATP) in populations from South Africa and Australia. This study aimed to determine whether these variants were associated with the risk of ATP in British Caucasians. We recruited 118 cases with ATP, including a subset of 25 individuals with Achilles tendon rupture (RUP) and 131 controls. DNA samples were isolated from saliva and genotyped using qPCR. For the TIMP2 rs4789932 variant we found a significant (p = 0.038) difference in the genotype distribution frequency between males with ATP (CC, 39.4{\%}; CT, 43.7{\%}; TT, 16.9{\%}) compared to male controls (CC, 20.7{\%}; CT, 59.8{\%}; TT, 19.5{\%}). We also observed a difference in the TIMP2 rs4789932 genotype distribution between males with rupture compared to male controls (p = 0.038). The MMP3 rs679620 GG genotype was found to be overrepresented in the Achilles tendon rupture (RUP) group (AA, 24.0{\%}; AG, 32.0{\%}; GG, 44.0{\%}) compared to controls (AA, 26.7{\%}; AG, 54.2{\%}; GG, 19.1{\%}). In conclusion, the CT genotype of the TIMP2 rs4789932 variant was associated with lower risk of ATP in males. Furthermore, while we revealed differences for both variants in genotype distribution between the RUP and control groups, the sample size of the RUP group was small and confirmation would be required in additional cohorts. Finally, although both the TIMP2 rs4789932 and MMP3 rs679620 variants tentatively associated with ATP, there were differences in the direction of association compared to earlier work.",
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