The role of genetic polymorphisms in development and progression of varicose veins

Objective. To analyze genotype polymorphisms potentially associated with varicose veins, to establish significant correlations between some genetic variants and severity of disease. Material and methods. The study included 411 participants. Of these, 40 ones comprised a group without signs of varicose veins, 187 patients had class C2—C3 varicose veins, 184 patients — class C4—C6 varicose veins. We analyzed allelic variants of some genes involved in angiogenesis and inflammation, including VEGFA, SELE (rs5361 and rs3917406), SELP, TIMP-1, MMP9, SOD1, MMP1, MMP2, COL1A1, NOS3, CRP, EDN1 polymorphism. Real-time polymerase chain reaction was used for genotyping of single nucleotide polymorphisms (SNPs). Results. The following polymorphisms were associated with disease: VEGFA rs2010963, SELE rs3917406, MMP2 rs243865, COL1A1 rs1800012, SELP rs6136. In multivariate logistic regression, rs3917406 polymorphism demonstrated the greatest effect (OR=7.9, p<0.001), rs2010963 also showed a high risk (OR=5.17, p<0.001), rs1800012 tripled the likelihood of disease (OR=3.06, p=0.002). Conclusion. Our results confirm the role of genetic predisposition in development of varicose veins and demonstrate potential of multifactorial prognostic models combining genetic and clinical-demographic indicators to assess individual risk and personalize prevention and treatment.