STUDY OF THE ASSOCIATION OF POLYMORPHISM rsl799750 OF THE MMP1 GENE AND rs2276109 OF THE MMP-12 GENE WITH THE DEVELOPMENT OF VARICOSE VEINS DISEASE OF THE LOWER LIMB AND ITS THROMBOTIC COMPLICATIONS

Abstract

Aim. Assessment of the contribution of the rsl799750 polymorphism of the MMP1 gene
of the rs2276109 and polymorphism of the MMP12 gene to the development of varicose
veins disease of the lower limb (VVDLL) and its thrombotic complications.
Material and methods. A total of 316 people were enrolled in the study, 161 patients
with VVDLL and venous thrombosis were included in the main group, and 155 conditionally
healthy individuals were included in the control group. The frequency of detection of the
rsl799750 polymorphism of the MMP1 gene and polymorphism rs2276109 of the MMP12
gene was investigated in all subjects using the Real-time PCR method.
Results. Study of the distribution of the mutant homozygous 2G/2G rs1799750 genotype of the
MMP1 gene revealed a marked tendency for its prevalence in the subgroup of patients with venous
thrombosis, where its proportion was 30.0%, versus the control group, where it was detected in
18.7% of cases, respectively (χ2=3.5; p=0.06; RR=1.8; 95%CI:0.97-3.5 OR=2.3; 95%CI:0.95-
5.4).
The degree of detection of the mutant homozygous genotype G/G rs2276109 of the MMP12
gene was at a very low level - it was detected in only one patient with VVDLL complicated by
venous thrombosis: in 2.0% of cases vs. 0.6%, respectively (χ2=0.6; p=0.4; RR =2.0; 95%CI:0.5-
8.1; OR=3.0, 95%CI:0.2-48.2).
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Conclusions: Carriage of 2G/2G genotypic variant of rs1799750 polymorphism of MMP1
gene is reliably associated not only with VVDLL formation but also with the development
of venous thrombosis.
The presence of unfavorable allelic variant of rs7123600 polymorphism of MMP-12 gene
may not serve as an early marker of development of structural changes of vein wall and
VVDLL of lower limbs as well as development of thrombotic complications.