Dietary fibre has proven to promote healthy body mass and reduce the risk of non-communicable diseases. To date, in Slovenia, there were only a few outdated studies of dietary fibre intake; ...therefore, we explored the dietary fibre intake using food consumption data collected in the SI.Menu project. Following the EU Menu methodology, data were collected on representative samples of adolescents, adults, and elderlies using a general questionnaire, a food propensity questionnaire, and two 24 h recalls. The results indicate that the intake of dietary fibre in Slovenia is lower than recommended. The proportion of the population with inadequate fibre intakes (<30 g/day) was 90.6% in adolescents, 89.6% in adults, and 83.9% in elderlies, while mean daily fibre intakes were 19.5, 20.9, and 22.4 g, respectively. Significant determinants for inadequate dietary fibre intake were sex in adolescents and adults, and body mass index in adults. The main food groups contributing to dietary fibre intake were bread and other grain products, vegetables and fruits, with significant differences between population groups. Contribution of fruits and vegetables to mean daily dietary fibre intake was highest in elderlies (11.6 g), followed by adults (10.6 g) and adolescents (8.5 g). Public health strategies, such as food reformulation, promoting whole-meal alternatives, consuming whole foods of plant origin, and careful planning of school meals could beneficially contribute to the overall dietary fibre intake in the population.
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains ...unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including
(miR-9),
(miR-338), and
(miR-638), in leukocyte samples of 84 patients with sporadic ALS. We observed significant aberrant dysregulation across our patient cohort for miR-124a, miR-206, miR-9, let-7b, and miR-638. Since we did not use neurological controls we cannot rule out that the revealed differences in expression of investigated miRNAs are specific for ALS. Nevertheless, the group of these five miRNAs is worth of additional research in leukocytes of larger cohorts from different populations in order to verify their potential association to ALS disease. We also detected a significant up-regulation of the
gene and down-regulation of the
gene, and thus, for the first time, we connected these with sporadic ALS cases. These findings open up new research toward miRNAs as diagnostic biomarkers and epigenetic processes involved in ALS. The detected significant deregulation of
and
in sporadic ALS also represents an interesting finding. The
gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM). In addition, as recent studies connected
and frontotemporal dementia (FTD) and
and hereditary spastic paraplegia (HSP), these two genes together with our results genetically connect, at least in part, five diseases, including FTD, HSP, Charcot-Marie-Tooth (type CMT2M), CNM, and ALS, thus opening future research toward a better understanding of the cell biology involved in these partly overlapping pathologies.
Genetic variability in some of the genes that affect absorption, distribution, metabolism, and elimination ("pharmacogenes") can significantly influence an individual's response to the drug and ...consequently the effectiveness of treatment and possible adverse drug events. The rapid development of sequencing methods in recent years and consequently the increased integration of next-generation sequencing technologies into the clinical settings has enabled extensive genotyping of pharmacogenes for personalized treatment. The aim of the present study was to investigate the frequency and variety of potentially actionable pharmacogenetic findings in the Slovenian population.
De-identified data from diagnostic exome sequencing in 1904 cases submitted to our institution were analyzed for variants within 293 genes associated with drug response. Filtered variants were classified according to population frequency, variant type, the functional impact of the variant, pathogenicity predictions and characterization in the Pharmacogenomics Knowledgebase (PharmGKB) and ClinVar.
We observed a total of 24 known actionable pharmacogenetic variants (PharmGKB 1A or 1B level of evidence), comprising approximately 26 drugs, of which, 12 were rare, with the population frequency below 1%. Furthermore, we identified an additional 61 variants with PharmGKB 2A or 2B clinical annotations. We detected 308 novel/rare potentially actionable variants: 177 protein-truncating variants and 131 missense variants predicted to be pathogenic based on several pathogenicity predictions.
In the present study, we estimated the burden of pharmacogenetic variants in nationally based exome sequencing data and investigated the potential clinical usefulness of detected findings for personalized treatment. We provide the first comprehensive overview of known pharmacogenetic variants in the Slovenian population, as well as reveal a great proportion of novel/rare variants with a potential to influence drug response.
Shared susceptibility alleles in the HLA region contribute to the co-existence of type 1 diabetes (T1D) and celiac disease (CD). The aim of our study was to identify HLA genotype variations that ...influence co-occurrence of T1D and CD (T1D + CD) and the order of their onset. Totally 244 patients, 67 with T1D, 68 with CD and 69 with T1D + CD, (split into "T1D first" and "CD first"), were analyzed. Control group consisted of 130 healthy unrelated individuals. Two-tailed Fisher's exact test was used for statistical analysis. The genetic background of Slovenian CD patients resembled more northern than southern European populations with DR3-DQ2/DR3-DQ2 (odds ratio OR = 19.68) conferring the highest risk. The T1D + CD was associated with DR3-DQ2/DR3-DQ2 (OR = 45.53) and even more with DR3-DQ2/DR4-DQ8 (OR = 93.76). DR3-DQ2/DR7-DQ2 played a neutral role in susceptibility for T1D + CD. The order of the onset of T1D or CD in patients with co-occurring diseases was not influenced by HLA risk genotype profile. DR3-DQ2/DR3-DQ2 was associated with an increased risk for developing CD in patients with T1D, whereas patients with CD carrying DR3-DQ2/DR4-DQ8 were at higher risk for developing T1D. In addition to other genetic factors including HLA class I alleles present on DR3-DQ2 extended haplotype, the second extended haplotype may moderate the risk for T1D + CD conferred by DR3-DQ2. Our results suggested that individuals carrying high-risk genotypes DR3-DQ2/DR3-DQ2 or DR3-DQ2/DR4-DQ8 would more likely develop both T1D and CD than either disease alone.
Consumption of
fatty acids (TFAs) has been unequivocally linked to several adverse health effects, with the increased risk of cardiovascular disease being one of the most well understood. To reduce ...TFA-related morbidity and mortality, several countries have imposed voluntary or mandatory measures to minimize the content of industrial TFAs (iTFAs) in the food supply. In 2018, Slovenia introduced a ban on iTFAs on top of preceding voluntary calls to industry to reduce its use of partially hydrogenated oils (PHOs) as the main source of iTFAs. To investigate the consumption of TFAs, data available from the nationally representative dietary survey SI.Menu were analyzed. The survey consisted of two 24-h non-consecutive day recalls from 1248 study participants from three age groups (10-17, 18-64, 65-74 years old), combined with socio-demographic, socio-economic, and lifestyle parameters. The analyses demonstrated that, on average, TFAs accounted for 0.38-0.50% of total energy intake (TEI). However, 13% of adolescents, 29.4% of adults, and 41.8% of the elderly population still consumed more than 0.50% TEI with TFAs. The main sources of TFAs in the diet were naturally present TFAs from butter, meat dishes, and meat products, regardless of the age group. Results indicate that following the reformulation activities, the major sources of TFAs in the diets of the Slovenian population now represent foods which are natural sources of TFAs.
The relationship between physical activity and green spaces has been widely researched, but less so when comparing physical activity in different environments. This study investigates the variations ...in physical activity across six environments (nature, park, urban, home, sportsground and indoor venue) and how it was influenced by lockdown governed during the COVID-19 pandemic. Data were collected from 1161 participants using an online survey conducted in spring 2021 in Slovenia. The results show that 95.5% of respondents are somewhat physically active, mostly in nature and at home. Respondents found natural shade, trees, secure access to and secure use of green spaces most important, recreational routes most encouraging, and bad smells and crowdedness most discouraging for outdoor physical activity. During the lockdown, 80% of people maintained or increased their physical activity. Regression analysis showed significant differences in preference for green space characteristics and levels of physical activity in different environments. Several sociodemographic and living environment characteristics also appeared significant. Our research findings underline the importance of considering a variety of environments when exploring preferences for physical activity. They also provide scientific evidence and justification for recommendations in planning and policy-making to encourage outdoor physical activity.
Abstract Amyotrophic lateral sclerosis (ALS) is a complex fatal neurodegenerative disease characterized by progressive degeneration and loss of upper motor neurons in the cerebral cortex and lower ...motor neurons in brainstem and spinal cord. We established the frequencies of mutations in 4 major ALS-associated genes, SOD1 , TARDBP , FUS , and C9ORF72 in a representative cohort of 85 Slovenian patients with sporadic form of ALS. Pathogenic massive hexanucleotide repeat expansion mutation in C9ORF72 was detected in 5.9% of patients and was the most common cause of the disease. In the remaining 3 genes, we identified 4 changes in 3 patients, p.Val14Met in SOD1 , silent mutation p.Arg522Arg in FUS , and p.Gly93Cys in SOD1 together with a novel synonymous variant c.990A>G (p.Leu330Leu) in TARDBP gene, respectively. This study represents the first genetic screening of major causative genes for ALS in a cohort of sporadic ALS patients from Slovenia and is according to our knowledge the first such study in Slavic population. Overall, we genetically characterized 8.2% sporadic ALS patients.
▶ Association between suicide and alcohol-related suicide for SNP Rs1843809 in TPH2. ▶ Tendency for association for SNP Rs1386493 and alcohol-related suicide in TPH2. ▶ More impulsive, verbal ...aggressive behavior in suicide victims with alcohol misuse.
Substantial evidence from family, twin, and adoption studies corroborates implication of genetic and environmental factors, as well as their interactions, on suicidal behavior and alcoholism risk. Serotonergic disfunction seems to be involved in the pathophysiology of substance abuse, and has also an important role in suicidal behavior. Recent studies of the tryptophan hydroxylase 2 showed mild or no association with suicide and alcohol-related suicide. We performed SNP and alcohol analysis on 388 suicide victims and 227 controls. The results showed association between suicide (
P(
χ
2)
=
0.043) and alcohol-related suicide (
P(
χ
2)
=
0.021) for SNP Rs1843809. A tendency for association was determined also for polymorphism Rs1386493 (
P(
χ
2)
=
0.055) and alcohol-related suicide. Data acquired from psychological autopsies in a subsample of suicide victims (
n
=
79) determined more impulsive behavior (
P(
χ
2)
=
0.016) and verbal aggressive behavior (
P(
χ
2)
=
0.025) in the subgroup with alcohol misuse or dependency. In conclusion, our results suggest implication of polymorphisms in suicide and alcohol-related suicide, but further studies are needed to clarify the interplay among serotonergic system disfunction, suicide, alcohol dependence, impulsivity and the role of TPH2 enzyme.
Abstract
Background: The Slovenian territory is geographically positioned between the Alps, the Adriatic Sea, the Pannonian basin and the Dinaric Mountains and, as such, has served as a passageway ...for different populations over different periods of time. Turbulent historic events and the diverse geography of the region have produced a diverse contemporary population whose genetic analysis could provide insight into past demographic events.
Aim: The aim of this study was to analyse Y-chromosome biallelic and STR markers in a Slovenian population from five different regions.
Subjects and methods: A total of 42 Y-chromosomal biallelic markers and 17 Y-STRs were genotyped in 399 individuals from five different Slovenian regions.
Results: The analysis of Y-chromosome markers revealed 29 different haplogroups in the Slovenian population, with the most common being R1a1a, R1b, I2a1 and I1. Analysis of the genetic affiliations between different populations revealed strong affiliations of the Slovenian gene pool with West Slavic populations.
Conclusion: Analysis of Y-chromosomal markers in five Slovenian regions revealed a diverse genetic landscape. Slovenian population display close genetic affiliations with West Slavic populations. The homogenous genetic strata of the West Slavic populations and the Slovenian population suggest the existence of a common ancestral Slavic population in central European region.
Background: The Slovenian territory is geographically positioned between the Alps, Adriatic Sea, Pannonian basin and the Dinaric Mountains and, as such, has served as a passageway for various ...populations in different periods of time. Turbulent historic events and diverse geography of the region have produced a diverse contemporary population whose genetic analysis could provide insight into past demographic events.
Aim: The aims of this study were to characterize the Slovenian mitochondrial gene pool at the micro-geographic level and to compare it with surrounding populations.
Subjects and methods: A total of 402 individuals from five Slovenian regions were analysed in this study by typing HVR I, HVR II and coding region polymorphisms of mtDNA.
Results: Analysis revealed 47 haplogroups and sub-haplogroups, the most common of which were H*, H1, J1c, T2 and U5a. Intra-population comparisons revealed a sharp gradient of the J1c haplogroup between Slovenian regions, with a peak frequency of 24.5% being observed in the population of the Littoral Region.
Conclusion: The sharp gradient of the J1c haplogroup between Slovenian regions is in line with the archaeological horizon known as Impressed Ware culture and could, therefore, represent a genetic trace of the early Neolithic expansion route along the East Adriatic coastal region.
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