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Single nucleotide polymorphism -799C/T in matrix metalloproteinase-8 promoter region in arterial disease

Pratikshya Pradhan-Palikhe1, Pirkko J Pussinen, Pirkka Vikatmaa

  • 1Institute of Dentistry, University of Helsinki, and Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki, Finland. pratikshya.pradhan-palikhe@helsinki.fi

Innate Immunity
|October 14, 2011
PubMed

Insights

The MMP-8 -799C allele may protect against arterial disease. This genetic variant might influence matrix metalloproteinase-8 (MMP-8) levels, though this effect was not evident in patients with arterial disease due to inflammation.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Biochemistry

Background:

  • Elevated serum matrix metalloproteinase (MMP)-8 concentrations are linked to arterial disease.
  • Matrix metalloproteinase-8 (MMP-8) plays a role in extracellular matrix remodeling, relevant to vascular health.

Purpose of the Study:

  • To investigate the association between two single nucleotide polymorphisms (SNPs) in the MMP-8 gene promoter region and arterial disease.
  • To determine if MMP-8 gene variants influence serum MMP-8 concentrations in patients with arterial disease and healthy individuals.

Main Methods:

  • Genotyping of MMP-8 promoter SNPs (-799C/T and -381A/G) in 124 arterial disease patients and 100 healthy controls.
  • Analysis of genotype frequencies, allele frequencies, and serum MMP-8 concentrations in relation to arterial disease status.
  • Statistical adjustment for age, gender, and serum TIMP-1 concentrations.

Main Results:

  • The MMP-8 -799C/T SNP showed a significant difference in genotype frequencies between patients and controls (P=0.012).
  • The -799C allele was less frequent in arterial disease patients (59.7%) compared to controls (70.0%; P=0.023).
  • The -799C allele demonstrated a protective effect against arterial disease (OR=0.372, P=0.045). The -799TT genotype was associated with increased serum MMP-8 levels in the overall population (P=0.025).

Conclusions:

  • The MMP-8 -799C allele appears to confer a protective effect against arterial disease.
  • MMP-8 genotype may influence systemic MMP-8 levels, but this association was obscured in arterial disease patients, likely due to confounding inflammatory processes.

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