Investigation of Genetic Polymorphisms Associated with Coronary Heart Diseases in the Hungarian General and Roma Populations

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Absztrakt

In the majority of Central and Eastern European countries, Roma represent over 5% of the population (“by Bernath A. [2009]). Their health status is significantly worse than that if the majority population.The aim of our study was to determine whether a genetic susceptibility does indeed contribute to the higher prevalence of cardiovascular-ill health in the Roma population. This is the first study to investigate several susceptible loci for CHD among Roma living in segregated colonies and to compare them with data for the majority Hungarian population.we examined genetic polymorphisms associated with CHD in four study groups: the Hungarian general population, Hungarian Roma population, clinical controls and clinically submitted cases. We hypothesized that CVD risk calculated on the basis of 22 SNPs is different between study populations.In addition, our study introduced the concept of GRS, a means to aggregate information from multiple gene variants into a single score. This descriptive study assumes that the effect size of SNPs studied was similar in our study populations, than it was found in the populations previously studied and the effect size described. Our results showed that indicators of SC-GRS, OR-GRS and EV-GRS were significantly lower in the HG population. Although a relatively small set of SNPs was selected for inclusion in GRSs, the results imply that it is possible to derive a genetic score that has at least some discriminative ability. The results suggest that genetic susceptibility might underlie the higher prevalence of cardiovascular ill-health in the Roma population.In our study the effect of potential confounders were not considered. However, subsequent analyses are needed because including the major confounding factors (eg.age, BMI, age when disease was diagnosed, blood pressure, sex and HDL, LDL levels) in multivariate logistic regression analyses might further refine the relationship between genetic risk factors and ethnic disparities in CHD prevalence.The obvious limitation of the current study is that the Roma study population was not representative of the overall Roma population in Hungary.

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Kulcsszavak
CVD, Coronary Heart Disease, SNP, Genetic polymorphism, Cardiovascular diseases, CAD: Coronary Artery Disease/ CHD: Coronary Heart Disease, CHR: Chromosome, CS: Coronary Sclerosis, Genome-wide associated studies, Hungarian Roma population, Ischemic Heart Disease, Odds ratio weighted GRS, Simple count GRS (SC-GRS), Explained variance weighted GRS (EV-GRS), Comparison of genetic risk scores, genetic basis of CHD, Járványtan
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