Abstract

Estimating the prevalence of cardiovascular diseases (CVDs) and risk factors among the Roma population, the largest minority in Europe, and investigating the role of genetic or environmental/behavioral risk factors in CVD development are important issues in countries where they are significant minority. This study was designed to estimate the genetic susceptibility of the Hungarian Roma (HR) population to essential hypertension (EH) and compare it to that of the general (HG) population. Twenty EH associated SNPs (in AGT, FMO3, MTHFR-NPPB, NPPA, NPPA-AS1, AGTR1, ADD1, NPR3-C5orf23, NOS3, CACNB2, PLCE1, ATP2B1, GNB3, CYP1A1-ULK3, UMOD and GNAS-EDN3) were genotyped using DNA samples obtained from HR (N = 1176) and HG population (N = 1178) subjects assembled by cross-sectional studies. Allele frequencies and genetic risk scores (unweighted and weighted genetic risk scores (GRS and wGRS, respectively) were calculated for the study groups and compared to examine the joint effects of the SNPs. The susceptibility alleles were more frequent in the HG population, and both GRS and wGRS were found to be higher in the HG population than in the HR population (GRS: 18.98 ± 3.05 vs. 18.25 ± 2.97, p<0.001; wGRS: 1.52 [IQR: 0.99–2.00] vs. 1.4 [IQR: 0.93–1.89], p<0.01). Twenty-seven percent of subjects in the HR population were in the bottom fifth (GRS ≤ 16) of the risk allele count compared with 21% of those in the HG population. Thirteen percent of people in the HR group were in the top fifth (GRS ≥ 22) of the GRS compared with 21% of those in the HG population (p<0.001), i.e., the distribution of GRS was found to be left-shifted in the HR population compared to the HG population. The Roma population seems to be genetically less susceptible to EH than the general one. These results support preventive efforts to lower the risk of developing hypertension by encouraging a healthy lifestyle.

Highlights

  • Under the leadership of the WHO, all Member States agreed in 2013 on global mechanisms to reduce the avoidable burden of noncommunicable diseases (NCDs)

  • We showed that the effect of the vast majority of the single nucleotide polymorphisms (SNPs) on HDL-C levels could be replicated in the HG and Roma populations, which indicates that the effect size measurements obtained from the literature on European populations can be used for risk estimation for the Roma population [51]

  • Estimating the prevalence of cardiovascular risk factors among the Roma population and investigating the role of genetic or environmental/behavioral/cultural risk factors in the development of cardiovascular diseases (CVDs) is an important issue in countries where they are significant minorities

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Summary

Introduction

Under the leadership of the WHO, all Member States agreed in 2013 on global mechanisms to reduce the avoidable burden of noncommunicable diseases (NCDs). This plan aims to reduce the number of premature deaths from NCDs by 25% through nine voluntary global targets by 2025. Two of the global targets directly focus on preventing and controlling cardiovascular diseases (CVDs), which are the number one cause of death globally [1]. Hungary still has one of the worst CVD mortality profiles when compared to other European Union countries [3]. According to recent WHO data, the early death caused by CVDs is three times more in Hungary than the European Union [4]

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