[Psychometric properties of the Hungarian version of the Intolerance of Uncertainty Scale - Short Version (IUS-12)]. / Az alkoholhasználat és az öndetermináció kapcsolata: a Kezelési Önszabályozási Kérdoív pszichometriai jellemzoi magyar mintán.

INTRODUCTION: Intolerance of uncertainty is the tendency to react negatively to an uncertain situation, regardless of the probability of the occurrence of the event and its consequences. Intolerance of uncertainty (IU) can also be conceptualized as a personality trait that is prominent in many anxiety and rumination-related pathologies. A growing body of research highlights its key role in understanding anxiety disorders. METHOD: The aim of present study was to investigate the dimensionality, validity and reliability of the Intolerance of Uncertainty Scale in a large non-clinical sample (N = 1747). Former was analysed by confirmatory factor analysis, the validity by correlation with the Perceived Stress Scale. Reliability was assessed using Cronbach's alpha coefficient and test-retest analysis. RESULTS: Confirmatory factor analysis failed to confirm the hypothesized two-factor structure (CFI = 0.907; TLI = 0.885; RMSEA = 0.103 [90% CI = 0.096-0.110]; SRMR = 0.071). However, the exploratory factor analysis identified the same two factors as in the original study: "Prospective" and "Inhibitory". The scale showed excellent internal reliability (α = 0.897) and test-retest reliability. There was moderate correlation with the Perceived Stress Scale (r = 0.438). CONCLUSION: Based on the results, the Hungarian version of the BTS-12 is a valid and reliable measurement tool. However, before its use in a Hungarian sample, its psychometric properties need to be confirmed by further studies on a large sample. In the future, the questionnaire will be useful in measuring intolerance of uncertainty and may be useful in identifying susceptibility to anxiety disorders.

Genetic Determinants of Leisure-Time Physical Activity in the Hungarian General and Roma Populations.

Leisure-time physical activity (LTPA) is one of the modifiable lifestyle factors that play an important role in the prevention of non-communicable (especially cardiovascular) diseases. Certain genetic factors predisposing to LTPA have been previously described, but their effects and applicability on different ethnicities are unknown. Our present study aims to investigate the genetic background of LTPA using seven single nucleotide polymorphisms (SNPs) in a sample of 330 individuals from the Hungarian general (HG) and 314 from the Roma population. The LTPA in general and three intensity categories of it (vigorous, moderate, and walking) were examined as binary outcome variables. Allele frequencies were determined, individual correlations of SNPs to LTPA, in general, were determined, and an optimized polygenetic score (oPGS) was created. Our results showed that the allele frequencies of four SNPs differed significantly between the two study groups. The C allele of rs10887741 showed a significant positive correlation with LTPA in general (OR = 1.48, 95% CI: 1.12-1.97; p = 0.006). Three SNPs (rs10887741, rs6022999, and rs7023003) were identified by the process of PGS optimization, whose cumulative effect shows a strong significant positive association with LTPA in general (OR = 1.40, 95% CI: 1.16-1.70; p < 0.001). The oPGS showed a significantly lower value in the Roma population compared with the HG population (oPGSRoma: 2.19 ± SD: 0.99 vs. oPGSHG: 2.70 ± SD: 1.06; p < 0.001). In conclusion, the coexistence of genetic factors that encourage leisure-time physical activity shows a more unfavorable picture among Roma, which may indirectly contribute to their poor health status.

Genetic Background of Metabolically Healthy and Unhealthy Obesity Phenotypes in Hungarian Adult Sample Population.

A specific phenotypic variant of obesity is metabolically healthy (MHO), which is characterized by normal blood pressure and lipid and glucose profiles, in contrast to the metabolically unhealthy variant (MUO). The genetic causes underlying the differences between these phenotypes are not yet clear. This study aims to explore the differences between MHO and MUO and the contribution of genetic factors (single nucleotide polymorphisms-SNPs) in 398 Hungarian adults (81 MHO and 317 MUO). For this investigation, an optimized genetic risk score (oGRS) was calculated using 67 SNPs (related to obesity and to lipid and glucose metabolism). Nineteen SNPs were identified whose combined effect was strongly associated with an increased risk of MUO (OR = 1.77, p < 0.001). Four of them (rs10838687 in MADD, rs693 in APOB, rs1111875 in HHEX, and rs2000813 in LIPG) significantly increased the risk of MUO (OR = 1.76, p < 0.001). Genetic risk groups based on oGRS were significantly associated with the risk of developing MUO at a younger age. We have identified a cluster of SNPs that contribute to the development of the metabolically unhealthy phenotype among Hungarian adults suffering from obesity. Our findings emphasize the significance of considering the combined effect(s) of multiple genes and SNPs in ascertaining cardiometabolic risk in obesity in future genetic screening programs.

Association of single nucleotide polymorphisms with taste and food preferences of the Hungarian general and Roma populations.

It is reasonable to suppose that poor diet underlies the unfavorable health status of the Roma population of Europe. Previously in the framework of a complex health survey, fruit and vegetable consumption, quantity of sugar added, salting frequency; bitter, salty, sweet and fat taste preferences were evaluated of Hungarian (HG, n = 410) and Roma (HR, n = 387) populations. In the present study the associations of taste and food preferences with TAS1R3, CD36, SCNN1B, TRPV1, TAS2R38, TAS2R19 and CA6 polymorphisms were tested in the same samples. Genotype frequencies did not differ significantly between the two populations. Although we initially observed associations between certain genetic polymorphisms and taste and food preferences in our study samples, none of the p values remained significant after the multiple test correction. However, some of our results could be considered promising (0.05

A study of the Bodrogköz population in north-eastern Hungary by Y chromosomal haplotypes and haplogroups.

We have determined the distribution of Y chromosomal haplotypes and haplogroups in population samples from one of the most important areas in north-eastern Hungary from many villages in the Bodrogköz. The Bodrogköz region was chosen due to its isolated nature, because this area was a moorland encircled by the Tisza, Bodrog, and Latorca Rivers and inhabitants of this part of Hungary escaped from both Tatar and Ottoman invasions, which decimated the post-Hungarian Conquest populations in many parts of the country. Furthermore, in the first half of the tenth century, this region served as the Palatial Centre and burial grounds of the Hungarian tribes. It has thus been assumed that the present population in this area is likely to be more similar to the population that lived in the Conquest period. We analysed male-specific markers, 23 Y-STRs and more than 30 Y-SNPs, that reflect the past and recent genetic history. We found that the general haplogroup distribution of the samples showed high genetic similarity to non-Bodrogköz Hungarians and neighbouring populations, despite its sheltered location and historical record. We were able to classify the Y-chromosomal haplogroups into four large groups based on STR mutation events: pre-Roman/Roman ancient lineage, Finno-Ugric speakers arriving into the Carpathian Basin, Migration period admixture, and post-Hungarian Conquest admixture. It is clear that a significantly larger database with deep haplogroup resolution, including ancient DNA data, is required to strengthen this research.

Low occurrence of the HLA-C*04:09N allele in a large Hungarian cohort.

The presence of null alleles may affect the outcome of stem cell transplantation. HLA-C*04:09N was defined as 'common' with a frequency of 2-5/1000 in Caucasians, and its presence is routinely tested as part of haplotypes HLA-A*02:01/A*23:01-B*44:03-DRB1*07:01-DQB1*02:01. We aimed to investigate HLA-C*04:09N in a representative Hungarian cohort. HLA-typing data of 7345 unrelated persons were analyzed. The presence of HLA-C*04:09N was excluded in 157 chromosomes with either serology typing or with an allele-specific polymerase chain reaction for HLA-C*04:09N. HLA-C*04:09N was identified in a single chromosome with HLA-A*02, B*44, C*04, DRB1*07 resulting in a HLA-C*04:09N allele frequency of 0.0068% (1/14,690). This is approximately a 10- to 40-fold lower frequency compared with the previous data. Our results emphasize the need of precise local population-specific HLA-data, allowing appropriate modifications of local HLA-typing protocols.

A combination of strongly associated prothrombotic single nucleotide polymorphisms could efficiently predict venous thrombosis risk.

Background: Venous thrombosis (VT) is multifactorial trait that contributes to the global burden of cardiovascular diseases. Although abundant single nucleotide polymorphisms (SNPs) provoke the susceptibility of an individual to VT, research has found that the five most strongly associated SNPs, namely, rs6025 (F5 Leiden), rs2066865 (FGG), rs2036914 (F11), rs8176719 (ABO), and rs1799963 (F2), play the greatest role. Association and risk prediction models are rarely established by using merely the five strongly associated SNPs. This study aims to explore the combined VT risk predictability of the five SNPs and well-known non-genetic VT risk factors such as aging and obesity in the Hungarian population. Methods: SNPs were genotyped in the VT group (n = 298) and control group (n = 400). Associations were established using standard genetic models. Genetic risk scores (GRS) [unweighted GRS (unGRS), weighted GRS (wGRS)] were also computed. Correspondingly, the areas under the receiver operating characteristic curves (AUCs) for genetic and non-genetic risk factors were estimated to explore their VT risk predictability in the study population. Results: rs6025 was the most prevalent VT risk allele in the Hungarian population. Its risk allele frequency was 3.52-fold higher in the VT group than that in the control group [adjusted odds ratio (AOR) = 3.52, 95% CI: 2.50-4.95]. Using all genetic models, we found that rs6025 and rs2036914 remained significantly associated with VT risk after multiple correction testing was performed. However, rs8176719 remained statistically significant only in the multiplicative (AOR = 1.33, 95% CI: 1.07-1.64) and genotypic models (AOR = 1.77, 95% CI: 1.14-2.73). In addition, rs2066865 lost its significant association with VT risk after multiple correction testing was performed. Conversely, the prothrombin mutation (rs1799963) did not show any significant association. The AUC of Leiden mutation (rs6025) showed better discriminative accuracy than that of other SNPs (AUC = 0.62, 95% CI: 0.57-0.66). The wGRS was a better predictor for VT than the unGRS (AUC = 0.67 vs. 0.65). Furthermore, combining genetic and non-genetic VT risk factors significantly increased the AUC to 0.89 with statistically significant differences (Z = 3.924, p < 0.0001). Conclusions: Our study revealed that the five strongly associated SNPs combined with non-genetic factors could efficiently predict individual VT risk susceptibility. The combined model was the best predictor of VT risk, so stratifying high-risk individuals based on their genetic profiling and well-known non-modifiable VT risk factors was important for the effective and efficient utilization of VT risk preventive and control measures. Furthermore, we urged further study that compares the VT risk predictability in the Hungarian population using the formerly discovered VT SNPs with the novel strongly associated VT SNPs.

Taste Preference-Related Genetic Polymorphisms Modify Alcohol Consumption Behavior of the Hungarian General and Roma Populations.

Harmful alcohol consumption has been considered a major public health issue globally, with the amounts of alcohol drunk being highest in the WHO European Region including Hungary. Alcohol consumption behaviors are complex human traits influenced by environmental factors and numerous genes. Beyond alcohol metabolization and neurotransmitter gene polymorphisms, taste preference-related genetic variants may also mediate alcohol consumption behaviors. Applying the Alcohol Use Disorders Identification Test (AUDIT) we aimed to elucidate the underlying genetic determinants of alcohol consumption patterns considering taste preference gene polymorphisms (TAS1R3 rs307355, TAS2R38 rs713598, TAS2R19 rs10772420 and CA6 rs2274333) in the Hungarian general (HG) and Roma (HR) populations. Alcohol consumption assessment was available for 410 HG and 387 HR individuals with 405 HG and 364 HR DNA samples being obtained for genotyping. No significant associations were found between TAS1R3 rs307355, TAS2R19 rs10772420, and CA6 rs2274333 polymorphisms and alcohol consumption phenotypes. Significant associations were identified between TAS2R38 rs713598 and the number of standard drinks consumed in the HG sample (genotype GG negatively correlated with the number of standard drinks; coef: -0.136, p = 0.028) and the prevalence of having six or more drinks among Roma (a negative correlation was identified in the recessive model; genotype GG, coef: -0.170, p = 0.049), although, none of these findings passed the Bonferroni-corrected probability criterion (p > 0.05). Nevertheless, our findings may suggest that alcohol consumption is partially driven by genetically determined taste preferences in our study populations. Further studies are required to strengthen the findings and to understand the drivers of alcohol consumption behavior in more depth.

Alcohol consumption patterns of the Hungarian general and Roma populations.

Introduction: Harmful alcohol use is a significant public health problem worldwide, though the alcohol-related burden affects disproportionately certain populations and ethnic minorities, with the WHO European Region being the most heavily affected and putting an increased risk on Roma populations. This ethnic minority group is the largest and most vulnerable ethnic minority in Europe and Hungary as well. Methods: The present study aims to describe and compare the alcohol consumption behaviors of the Hungarian general and Roma populations using the Alcohol Use Disorders Identification Test (AUDIT), which provides a comprehensive view of alcohol consumption behavior. In addition, a decomposition analysis was performed when the multivariate logistic or Poisson regression model showed significant differences between the two samples. Results: Our findings suggest that Roma people in our study sample experience more alcohol-related harm, even when considering past problems. The decomposition analysis revealed that gender and relationship status differences act more intensely among Roma than non-Roma when considering alcohol-related harm. Discussion: Equalizing these differences would be expected to reduce the Hungarian general and Roma populations' alcohol-related harm frequency gap. Investigating alcohol-attributed harms at the ethnicity level provides important information to identify high-risk groups and, thus, to design and implement more targeted and accessible interventions for alcohol problems.

Tinnitus characteristics and associated variables on Tinnitus Handicap Inventory among a Hungarian population.

Background: Tinnitus is a sound precepted without an external sound stimulus. Its background can be categorised into primary and secondary cases. The secondary cases include pathologies of the external, middle and inner ear. Tinnitus can be objective or subjective; the latter can only identified by the sufferer. Previous research results have shown that tinnitus significantly affects the quality of life and daily functioning. Objectives: To analyse the impact of tinnitus on the daily functioning and the possible influence of demographical data and tinnitus duration on it. Methods: 630 patients (265 males and 365 females, 25-85 years of age) suffering from primary tinnitus were enrolled. In the Hungarian language, these patients completed the Tinnitus Handicap Inventory (THI) questionnaire and underwent a complete otorhinolaryngological examination. IBM SPSS V24 software was used for data processing; correlation tests, the Mann-Whitney U and Kruskal-Wallis non-parametric tests were used. Results: According to the THI questionnaires outcomes, most patients (62.5%) were presented with a mild handicap. Based on statistical analysis, no significant correlation was observed between the total THI points and the age of the patients, along with the duration and localisation of the symptoms. However, the total THI scores of male and female patients significantly differed, indicating higher THI values in the female group (p = 0.00052∗). Conclusions: The tinnitus severity was not affected by the duration, localisation of the symptoms and age but by gender, indicating higher values in the case of females.

The effects of tinnitus on the patients' quality of life / A fülzúgás hatása a betegek életminoségére

Introduction: Tinnitus can be considered a common complaint that may significantly affect the patients' quality of life. Tinnitus may be examined based on the Tinnitus Handicap Inventory (THI) questionnaire. Method: The current study involved a total of 559 patients with primary tinnitus who have filled in the validated Hungarian version of the THI questionnaire. The collected data were analysed using the IBM SPSS V24 software. Results: According to sociographic variables, a mild female dominance was observed in the study population, while the average age of the tinnitus sufferers was about 60 years. In terms of laterality of the complaint, left and bilateral tinnitus dominated (39.1% and 40%). The median value was 22 months, considering the duration of the onset of the symptoms. By analysing the categories of the THI questionnaire, it was seen that the ratio of patients categorised into normal handicap was approximately 24% and that most patients were categorized into the mild handicap category (36.1%). In contrast, only 5.5% of patients reported a severe handicap. There was a significant difference between the values of all three groups (p<0.0001*, Kruskal­Wallis test), comparing the values of the individual subscores (functional, emotional, and catastrophic). Conclusion: The use of the THI questionnaire is essential to assess the deterioration in the quality of life caused by tinnitus.

Biologia futura: confessions in genes.

Y-DNA and mtDNA have been a widely used tool not only in forensic genetic applications but in human evolutionary and population genetic studies. Its paternal or maternal inheritance and lack of recombination have offered the opportunity to explore genealogical relationships among individuals and to study the frequency differences of paternal and maternal clades among human populations at continental and regional levels. It is unbelievable, but true, that the disadvantages of paternal and maternal lineages in forensic genetic studies, i.e., everyone within a family have the same paternal or maternal haplotype and haplogroup, become advantages in human evolutionary studies, i.e., reveal the genetic history of successful mothers and successful fathers. Thanks to these amazing properties of haploid markers, they provide tools for mapping the migration routes of human populations during prehistoric and historical periods, separately as maternal and paternal lineages, and together as the genetic history of a population.

Impact of Genetic Factors on the Age of Onset for Type 2 Diabetes Mellitus in Addition to the Conventional Risk Factors.

It is generally accepted that the early detection of type 2 diabetes mellitus (T2DM) is important to prevent the development of complications and comorbidities, as well as premature death. The onset of type 2 diabetes mellitus results from a complex interplay between genetic, environmental, and lifestyle risk factors. Our study aims to evaluate the joint effect of T2DM associated single nucleotide polymorphisms (SNPs) on the age of onset for T2DM in combination with conventional risk factors (such as sex, body mass index (BMI), and TG/HDL-C ratio) in the Hungarian population. This study includes 881 T2DM patients (Case population) and 1415 samples from the Hungarian general population (HG). Twenty-three SNPs were tested on how they are associated with the age of onset for T2DM in the Case population and 12 of them with a certified effect on the age of T2DM onset were chosen for an optimized genetic risk score (GRS) analysis. Testing the validity of the GRS model developed was carried out on the HG population. The GRS showed a significant association with the age of onset for T2DM (ß = -0.454, p = 0.001) in the Case population, as well as among T2DM patients in the HG one (ß = -0.999, p = 0.003) in the replication study. The higher the GRS, the earlier was the T2DM onset. Individuals with more than eight risk alleles will presumably be diabetic six and a half years earlier than those with less than four risk alleles. Our results suggest that there is a considerable genetic predisposition for the early onset of T2DM; therefore, in addition to conventional risk factors, GRS can be used as a tool for estimating the risk of the earlier onset of T2DM and stratifying populations at risk in order to define preventive interventions.