Polymorphic Variants rs13155212 (T/C) and rs7704267 (G/C) in the AGGF1 Gene and Risk of Varicose Veins of the Lower Extremities in the Population of Ethnic Russians

Abstract

We analyzed associations between single nucleotide polymorphisms (SNP) rs13155212 and rs7704267 in the AGGF1 gene (angiogenic factor with G patch and FHA domains 1) and the risk of risk of varicose veins of the legs in ethnic Russians. Frequencies of alleles, genotypes, and haplotypes were estimated in the sample of patients with this disease (474 patients) and in the control group of participants (478 volunteers) without a history of chronic venous disease. None of the studied polymorphisms was associated with the risk of this pathology. The whole AGGF1 gene sequence lies in a single block of high linkage disequilibrium, and both studied polymorphic variants are representative of all other SNP within this region. From these results, a conclusion was made that AGGF1 gene polymorphism does not affect the risk of varicose veins of the legs in ethnic Russians, or its contribution is low and can be revealed only after analysis of larger cohorts.

The genetic constituent of varicose vein pathogenesis as a key for future treatment option development

“…There are different criteria for inclusion and exclusion, subjectivity in diagnosis, the presence of comorbidities, different sources of control groups, size disparity between the groups and differences between ethnic groups. Our 2016 review "The genetic base of chronic venous disease: a review of modern concepts", which is highly scrutinizing from a genetic point of view, provides the detailed information available at that time about the relationship of genetic factors with the development of chronic venous disease [12] . Thus, the table "Polymorphic variants/mutations of candidate genes and their associations with chronic venous disease" shows not only the gene, the type of mutation/single nucleotide polymorphism (SNP) and the reference to the article, but also the sample size and the degree of this association, which is decisive for the significance of this association.…”