Putative protective genomic variation in the Lithuanian population.

Genomic effect variants associated with survival and protection against complex diseases vary between populations due to microevolutionary processes. The aim of this study was to analyse diversity and distribution of effect variants in a context of potential positive selection. In total, 475 individuals of Lithuanian origin were genotyped using high-throughput scanning and/or sequencing technologies.

Implementing Core Genes and an Omnigenic Model for Behaviour Traits Prediction in Genomics.

A high number of genome variants are associated with complex traits, mainly due to genome-wide association studies (GWAS). Using polygenic risk scores (PRSs) is a widely accepted method for calculating an individual's complex trait prognosis using such data. Unlike monogenic traits, the practical implementation of complex traits by applying this method still falls behind.

Psychological distress 35 years after the Chornobyl accident in the Lithuanian clean-up workers.

The adverse effects on the health of the Chornobyl nuclear power plant accident clean-up workers have been reported previously. However, there is a lack of studies on the mental health of Chornobyl clean-up workers. The current study explored psychological distress in a sample of Lithuanian clean-up workers 35 years after the accident.

Identifying Genomic Signatures of Positive Selection to Predict Protective Genomic Loci in the Cohort of Lithuanian Clean-Up Workers of the Chornobyl Nuclear Disaster.

Some people resist or recover from health challenges better than others. We studied Lithuanian clean-up workers of the Chornobyl nuclear disaster (LCWC) who worked in the harshest conditions and, despite high ionising radiation doses as well as other factors, continue ageing relatively healthily. Thus, we hypothesised that there might be individual features encoded by the genome which act protectively for better adaptiveness and health that depend on unique positive selection signatures.

Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes.

Aim: The aim is to provide an overview of recent research on genetic factors that influence preterm birth in the context of neonatal phenotypic assessment.

Methods: This is a nonsystematic review of the recent scientific literature.

Results: Maternal and fetal genetic diversity and rare genome variants are linked with crucial immune response sites.

Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift.

Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries have initiated population-based whole-genome sequencing (WGS) studies. Genomic variation within Lithuanian families are not available in the public databases.

New associations of serum β-carotene, lycopene, and zeaxanthin concentrations with , , , AND genes.

Variation in carotenoid bioavailability at individual and population levels might depend on host-related factors where genetic variation has a part to play. It manifests itself through the proteins involved in carotenoid intestinal absorption and metabolism, blood lipoprotein transport, or tissue uptake. This study aims to identify novel SNPs which could be associated with carotenoid serum concentrations.

Possible Protective Effect of Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.

Ionising radiation (IR) is an environmental factor known to alter genomes and therefore challenge organisms to adapt. Lithuanian clean-up workers of the Chernobyl nuclear disaster (LCWC) experienced high doses of IR, leading to different consequences. This study aims to characterise a unique protective genomic variation in a relatively healthy LCWC group.

Association study of taste preference: Analysis in the Lithuanian population.

Taste has strong evolutionary basis in the sense of survival by influencing our behavior to obtain food/medicine or avoid poisoning. It is a complex trait and varies among individuals and distinct populations. We aimed to investigate the association between known genetic factors (673 SNPs) and taste preference in the Lithuanian population, as well as to determine a reasonable method for qualitative evaluation of a specific taste phenotype for further genetic analysis.

Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Background: Alcohol use disorder (AUD) is a chronic relapsing brain disease characterized by compulsive alcohol use, loss of control over alcohol intake, and a negative emotional state when not using (1). Abusive alcohol consumption directly affects a person's physical and psychological health and social life. The World Health Organization has shown that Lithuania is a leading country in pure alcohol consumption in the world (2).

Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.

Next-generation sequencing (NGS) became an effective approach for finding novel causative genomic variants of genetic disorders and is increasingly used for diagnostic purposes. Public variant databases that gather data of pathogenic variants are being relied upon as a source for clinical diagnosis. However, research of pathogenic variants using public databases data could be carried out not only in patients, but also in healthy people.

Classical rather than genetic risk factors account for high cardiovascular disease prevalence in Lithuania: A cross-sectional population study.

Purpose: Cardiovascular disease (CVD) mortality accounts for 54% of all deaths in Lithuania, making it the highest among all of the European Union countries. We evaluated the prevalence of several CVD risk factors, including lifestyle, blood biochemistry and genetic predisposition to determine the reasons behind significantly increased CVD prevalence in Lithuania.

Materials And Methods: In total 435 volunteers of Lithuanian ethnicity and stable geographic settlement for 3 generations, had their anthropometric, biochemical and behavioural risk factors measured.

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

Background: Congenital hearing loss (CHL) is diagnosed in 1 - 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide. The aim of this cross-sectional study was to assess the contribution of the DFNB1 locus containing the GJB2 and GJB6 genes in the development of early onset hearing loss in the affected group of participants, to determine the population-specific mutational profile and DFNB1-related HL burden in Lithuanian population.