Genetic profiling revealed an increased risk of venous thrombosis in the Hungarian Roma population

Abstract

BackgroundBesides modifiable risk factors, genetic susceptibility may also explain the high cardiovascular disease burden of the Roma population. ObjectivesAim of this study was to define the genetic susceptibility of Hungarian Roma to venous thrombosis (VT) and comparing it to that of the general population. MethodsFifty-two SNPs associated with VT (in F2, F5, F9, F11, F15, FGA, FGB, FGG, CYP4V2, KLKB1 and vWF) were selected and analyzed in the group of Roma (N = 962) and general (N = 1492) subjects collected by cross-sectional studies. Allele frequencies and genetic risk scores (GRS, unweighted and weighted) were computed for the study groups and compared to estimate the joint effects of SNPs. ResultsThe majority of the susceptible alleles were more prevalent in the Roma population, and both GRS and wGRS were found to be significantly higher in Roma than in the general population (GRS: 41.83 ± 5.78 vs. 41.04 ± 6.04; wGRS: 7.78 ± 1.28 vs. 7.46 ± 1.33, p = .001). Only 2.39% of subjects in the Roma population were in the bottom fifth of the wGRS (wGRS≤0.19) compared with 3.62% of those in the general population (p = .080); 2.88% of the general subjects were in the top fifth of the wGRS (wGRS≥10.02), while 4.26% of the Roma population were (p = .066). ConclusionIn conclusion, the Roma population seems to have increased genetic susceptibility to VT. This might have important implications in the future in identifying possible new opportunities for targeted prevention and treatment for those subgroups in the populations who are at greater risk for VT development.