Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls

J Sci Med Sport. 2009 Jan;12(1):184-9. doi: 10.1016/j.jsams.2007.12.006. Epub 2008 Mar 19.

Abstract

Sequence variants within the type V collagen (COL5A1) and tenascin C (TNC) genes have to date been shown to be associated with chronic Achilles tendinopathies and/or spontaneous Achilles tendon ruptures. Type V collagen and tenascin C are quantitatively minor components of tendon, while type I collagen is the major structural component. There is increased expression of the COL1A1 gene, which encodes for the alpha1 chain of type I collagen, in the painful Achilles tendon. A functional Sp1-binding site polymorphism (SNP rs1800012; IVS1+1023G>T) within this gene has been shown to be associated with several connective tissue disorders. The aim of this study was to determine whether the Sp1-binding site polymorphism within the COL1A1 gene is associated with chronic Achilles tendinopathies and/or spontaneous Achilles tendon ruptures. Achilles tendinopathy (n=85), Achilles rupture (n=41) and asymptomatic control (n=125) participants were genotyped for the COL1A1 Sp1-binding site polymorphism. There were no observed statistical differences in the genotype (p=0.602) or allele (p=0.694) distributions between the groups. In conclusion, this study has shown that there is no association between the Sp1-binding site polymorphism within the first intron of COL1A1 and Achilles tendinopathy or Achilles tendon rupture within the population studied.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achilles Tendon / injuries*
  • Adult
  • Binding Sites / genetics
  • Collagen Type I / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Rupture / epidemiology
  • Rupture / genetics*
  • South Africa / epidemiology
  • Surveys and Questionnaires
  • Tendinopathy / epidemiology
  • Tendinopathy / genetics*

Substances

  • Collagen Type I
  • collagen type I, alpha 1 chain