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Increased prevalence of the CVD-associated ANRIL allele in the Roma/Gypsy population in comparison with the majority Czech population.

ABSTRACT: Cardiovascular disease (CVD) is a major cause of death around the world, with highest prevalence reported in minority Roma/Gypsy populations living in developed countries. Whether these differences are caused by unhealthy lifestyles or genetic factors remain unknown. The aim of our study was to examine the genotype frequencies of the rs10757274 polymorphism in the 9p.21 locus within ANRIL (antisense non-coding RNA in the INK4 locus), a long non-coding RNA located in the vicinity of the CDKN2A/2B inhibitors loci. ANRIL is understood to be the strongest genetic determinant of CVD in Caucasians. Using PCR-RFLP, we analysed the ANRIL rs10757274 polymorphism in 298 non-Roma (50% male) and 302 Roma/Gypsy (50% male) adult (39.5 ± 15.1 years and 39.2 ± 12.8 years, respectively) subjects. We found that frequencies of the ANRIL GG, GA and AA genotypes were 20.1%, 52.4% and 27.5% in the majority population and 32.9%, 47.9% and 19.2% in Roma/Gypsy subjects, respectively. The distribution of genotypes was deemed significantly different at P < 0.001. Within the Roma/Gypsy population, we detected increased prevalence of the CVD-associated GG genotype. Increased prevalence of CVD among Roma/Gypsies subjects may be significantly linked to genetic background.

SUBMITTER: Hubacek JA

PROVIDER: S-EPMC8097515 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population.

Project description:BackgroundThe Czech governmental study suggests up to a 25% higher prevalence of type 2 diabetes mellitus (T2DM) in the Roma population than within the majority population. It is not known whether and to what extent these differences have a genetic background.MethodsTo analyze whether the frequencies of the alleles/genotypes of the FTO, TCF7L2, CDKN2A/2B, MAEA, TLE4, IGF2BP2, ARAP1, and KCNJ11 genes differ between the two major ethnic groups in the Czech Republic, we examined them in DNA samples from 302 Roma individuals and 298 Czech individuals.ResultsCompared to the majority population, Roma are more likely to carry risk alleles in the FTO (26% vs. 16% GG homozygotes, p < .01), IGF2BP2 (22% vs. 10% TT homozygotes, p < .0001), ARAP1 (98% vs. 95% of A allele carriers, p < .005), and CDKN2A/2B (81% vs. 66% of TT homozygotes, p < .001) genes; however, less frequently they are carriers of the TCF7L2 risk allele (34% vs. 48% of the T allele p < .0005). Finally, we found significant accumulation of T2DM-associated alleles between the Roma population in comparison with the majority population (25.4% vs. 15.2% of the carriers of at least 12 risk alleles; p < .0001).ConclusionThe increased prevalence of T2DM in the Roma population may have a background in different frequencies of the risk alleles of genes associated with T2DM development.

| S-EPMC7507457 | biostudies-literature

Frequency of adult type-associated lactase persistence LCT-13910C/T genotypes in the Czech/Slav and Czech Roma/Gypsy populations.

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| S-EPMC5488455 | biostudies-literature

CVD Risk Factors in the Ukrainian Roma and Meta-Analysis of Their Prevalence in Roma Populations Worldwide.

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| S-EPMC8622536 | biostudies-literature

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

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| S-EPMC3062003 | biostudies-literature

High prevalence of VTE in the Hungarian Roma population

Project description:GxE interaction and VTE risk in the Hungarian population

| PRJEB47437 | ENA

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Project description:BackgroundCongenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed.MethodsWe clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed.ResultsAll patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild.ConclusionsClinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.

| S-EPMC3976362 | biostudies-literature

COVID-19 Prevalence among Czech Dentists.

Project description:This work evaluates the prevalence of coronavirus disease (COVID-19), a viral infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), among members of the Czech Dental Chamber. The assessment was based on an online questionnaire filled out by 2716 participants, representing 24.3% of all chamber members. Overall, 25.4% of the participants admitted they were diagnosed with COVID-19 by 30 June 2021, with no statistical differences between the sexes. While in the age groups under 50 the reported prevalence was around 30%, with increasing age, it gradually decreased to 15.2% in the group over 70 years. The work environment was identified as a place of contagion by 38.4% of the respondents. The total COVID-19 PCR-verified positivity was 13.9%, revealing a statistically lower prevalence (p = 0.0180) compared with the Czech general population, in which the COVID-19 PCR-verified positivity was ~15.6% (fourth highest rank in the world). The total infection-hospitalization ratio (IHR) was 2.8%, and the median age group of hospitalized individuals was 60-70 years. For respondents older than 60 years, the IHR was 8.7%, and for those under 40 years, it was 0%. Of the respondents, 37.7% admitted that another team member was diagnosed with COVID-19, of which the most frequently mentioned profession was a nurse/dental assistant (81.2%). The results indicate that although the dentist profession is associated with a high occupational risk of SARS-CoV-2 infection, well-chosen antiepidemic measures adopted by dental professionals may outweigh it.

| S-EPMC8656522 | biostudies-literature

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Project description:BackgroundIn the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among Roma and Pakistani mutation carriers identified in the present and previous studies.MethodsWe sequenced 6 exons of the MARVELD2 gene in a group of 143 unrelated hearing impaired Slovak Roma patients. Simultaneously, we used RFLP to detect the c.1331+2T>C mutation in 85 Hungarian deaf Roma patients, control groups of 702 normal hearing Romanies from both countries and 375 hearing impaired Slovak Caucasians. We analyzed the haplotype using 21 SNPs spanning a 5.34Mb around the mutation c.1331+2T>C.ResultsOne pathogenic mutation (c.1331+2T>C) was identified in 12 homozygous hearing impaired Roma patients. Allele frequency of this mutation was higher in Hungarian (10%) than in Slovak (3.85%) Roma patients. The identified common haplotype in Roma patients was defined by 18 SNP markers (3.89 Mb). Fourteen common SNPs were also shared among Pakistani and Roma homozygotes. Biallelic mutation carriers suffered from prelingual bilateral moderate to profound sensorineural hearing loss.ConclusionsWe demonstrate different frequencies of the c.1331+2T>C mutation in hearing impaired Romanies from 3 Central European countries. In addition, our results provide support for the hypothesis of a possible common ancestor of the Slovak, Hungarian and Czech Roma as well as Pakistani deaf patients. Testing for the c.1331+2T>C mutation may be recommended in GJB2 negative Roma cases with early-onset sensorineural hearing loss.

| S-EPMC4401708 | biostudies-literature

COVID-19 among Czech Dentistry Students: Higher Vaccination and Lower Prevalence Compared to General Population Counterparts.

Project description:The restrictions on medical students' clinical education during the COVID-19 pandemic has affected their professional readiness and often lengthened their training. These negative impacts are often considered a necessary price as clinical education is hypothesized to be associated with a high risk of pandemic spread. This work assesses this hypothesis based on COVID-19 epidemiological data among Czech dentistry students and their comparison to data of the Czech general population of similar age. We addressed two of the five Czech medical faculties (Charles University, Faculty of Medicine in Hradec Kralove and in Pilsen) providing dentistry study program with a survey. A total of 240 students participated, representing a 66.9% response rate. Over 75% of respondents participated in clinical education during the pandemic. The school environment was identified as a place of infection by only 9.8% of respondents who were aware of where they were infected. Overall, 100% of students used FFP2 respirators, and 75.3% used face shields or protective glasses while working with patients. By the end of May 2022, COVID-19 full vaccination and 1st booster rates among students were 93.8% and 54.6%, respectively, which is significantly higher (p < 0.0001, OR 7.3, 95% CI 4.4-12; p < 0.0001, OR 3.7, 95% CI 2.9-4.8, respectively) compared to their peers from the general population (67.1% and 24.4%, respectively). A total of 75.4% of respondents supported mandatory COVID-19 vaccination for healthcare professionals. To the same date, PCR and/or antigen test verified COVID-19 prevalence among students was 37.1%, while among peers from the general population, it was 45.1% (p = 0.015, OR 1.2, 95% CI 1.0-1.5). The combination of extensive protective measures and high vaccination against COVID-19 led to significantly lower COVID-19 prevalence among the students compared to their general population counterparts.

| S-EPMC9695306 | biostudies-literature

SNP-Based Genetic Risk Score Modeling Suggests No Increased Genetic Susceptibility of the Roma Population to Type 2 Diabetes Mellitus.

Project description:BACKGROUND:In a previous survey, an elevated fasting glucose level (FG) and/or known type 2 diabetes mellitus (T2DM) were significantly more frequent in the Roma population than in the Hungarian general population. We assessed whether the distribution of 16 single nucleotide polymorphisms (SNPs) with unequivocal effects on the development of T2DM contributes to this higher prevalence. METHODS:Genetic risk scores, unweighted (GRS) and weighted (wGRS), were computed and compared between the study populations. Associations between GRSs and FG levels and T2DM status were investigated in separate and combined study populations. RESULTS:The Hungarian general population carried a greater genetic risk for the development of T2DM (GRSGeneral = 15.38 ± 2.70 vs. GRSRoma = 14.80 ± 2.68, p < 0.001; wGRSGeneral = 1.41 ± 0.32 vs. wGRSRoma = 1.36 ± 0.31, p < 0.001). In the combined population models, GRSs and wGRSs showed significant associations with elevated FG (p < 0.001) and T2DM (p < 0.001) after adjusting for ethnicity, age, sex, body mass index (BMI), high-density Lipoprotein Cholesterol (HDL-C), and triglyceride (TG). In these models, the effect of ethnicity was relatively strong on both outcomes (FG levels: ?ethnicity = 0.918, p < 0.001; T2DM status: ORethnicity = 2.484, p < 0.001). CONCLUSIONS:The higher prevalence of elevated FG and/or T2DM among Roma does not seem to be directly linked to their increased genetic load but rather to their environmental/cultural attributes. Interventions targeting T2DM prevention among Roma should focus on harmful environmental exposures related to their unhealthy lifestyle.

| S-EPMC6896051 | biostudies-literature

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