Investigation of association between genetic polymorphisms of MMP2, MMP8, MMP9 and TIMP2 and development of varicose veins in the Slovak Population - pilot study

Physiol Res. 2020 Dec 31;69(Suppl 3):S443-S454. doi: 10.33549/physiolres.934597.

Abstract

Matrix metalloproteinases (MMPs) are a family of zinc-dependent metalloendopeptidases that degrades extracellular matrix (ECM) components. MMPs are associated with venous wall remodelling, proliferation, migration, phenotypic and functional transformation of vascular smooth muscle cells and ECM organization under the physiological and pathophysiological conditions. We investigated possible association of genetic promoter polymorphisms of MMP2 (rs243866), MMP8 (rs11225395), MMP9 (rs3918242) and TIMP2 (rs8179090) to varicose veins development in the Slovak population. Genomic DNA from 276 Slovak individuals (138 cases, 138 controls) was genotyped for selected SNPs (rs243866, rs11225395, rs3918242 and rs8179090) using the PCR-RFLP analysis. The data were analysed by chi-squared (chi2) test, logistic regression, and Mann-Whitney test. The risk of varicose veins development was evaluated in dominant, codominant and recessive genetic models. The statistical evaluation of selected polymorphisms in patients in all three genetic models has not shown a significant risk of varicose veins development. Our study has not shown the association between selected polymorphisms and increased risk of varicose veins development in Slovak population. More evidence with broaden sample size is needed.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Matrix Metalloproteinase 2 / genetics
  • Matrix Metalloproteinase 8 / genetics
  • Matrix Metalloproteinase 9 / genetics
  • Matrix Metalloproteinases / genetics*
  • Middle Aged
  • Pilot Projects
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Slovakia / epidemiology
  • Tissue Inhibitor of Metalloproteinase-2 / genetics*
  • Varicose Veins / epidemiology
  • Varicose Veins / genetics*
  • Varicose Veins / pathology
  • Young Adult

Substances

  • TIMP2 protein, human
  • Tissue Inhibitor of Metalloproteinase-2
  • Matrix Metalloproteinases
  • MMP2 protein, human
  • Matrix Metalloproteinase 2
  • MMP8 protein, human
  • Matrix Metalloproteinase 8
  • MMP9 protein, human
  • Matrix Metalloproteinase 9