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Polymorphism of Matrix Metalloproteinases Genes MMP1, MMP2, MMP3, and MMP7 and the Risk of Varicose Veins of Lower

A S Shadrina1, M A Smetanina2, K S Sevost'yanova2

  • 1Institute of Chemical Biology and Fundamental Medicine, Siberian Division of the Russian Academy of Sciences, Novosibirsk, Russia. weiner.alexserg@gmail.com.

Bulletin of Experimental Biology and Medicine
|September 26, 2017
PubMed

Insights

Genetic variations in key matrix metalloproteinase genes do not increase the risk for developing varicose veins in ethnic Russians. These specific gene polymorphisms are not linked to the underlying causes or predisposition of this common vascular condition.

Area of Science:

  • Genetics
  • Vascular Biology
  • Molecular Epidemiology

Background:

  • Varicose veins of the lower extremities represent a prevalent vascular condition with complex etiology.
  • Matrix metalloproteinases (MMPs) are enzymes involved in extracellular matrix remodeling, potentially influencing vascular integrity.
  • Genetic factors, including single nucleotide polymorphisms (SNPs), are investigated for their role in disease susceptibility.

Purpose of the Study:

  • To investigate the association between specific SNPs in MMP1, MMP2, MMP3, and MMP7 promoter regions and the risk of developing lower extremity varicose veins.
  • To determine if these genetic variations serve as markers for varicose vein predisposition in an ethnic Russian population.

Main Methods:

  • Case-control study design involving 536 patients with varicose veins and 273 healthy controls.
  • Genotyping of four specific SNPs: rs1799750 (MMP1), rs243865 (MMP2), rs3025058 (MMP3), and rs11568818 (MMP7).
  • Statistical analysis using logistic regression to assess the association between genotypes and varicose vein risk.

Main Results:

  • No statistically significant association was found between any of the studied MMP gene promoter polymorphisms (rs1799750, rs243865, rs3025058, rs11568818) and the risk of lower extremity varicose veins.
  • The observed frequencies of the studied genotypes did not differ significantly between patients and controls.

Conclusions:

  • The investigated single nucleotide polymorphisms in the promoter regions of MMP1, MMP2, MMP3, and MMP7 are not implicated in the pathogenesis of varicose veins in the studied ethnic Russian cohort.
  • These specific genetic variations do not appear to be reliable markers for predicting predisposition to lower extremity varicose veins.
Keywords:
gene polymorphismlower extremity varicose vein diseasematrix metalloproteinases

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