Genome-Wide Landscape of North-Eastern European Populations: A View from Lithuania.

There are still several unanswered questions regarding about ancient events in the Lithuanian population. The Lithuanians, as the subject of this study, are of great interest as they represent a partially isolated population maintaining an ancient genetic composition and show genetic uniqueness in European comparisons. To elucidate the genetic relationships between the Lithuania and North-Eastern European and West Siberian populations, we analyzed the population structure, effective population size, and recent positive selection from genome-wide single nucleotide polymorphism (SNP) data. We identified the close genetic proximity of Lithuanians to neighboring populations (Latvians, Estonians, Belarusians) and in part with West and South Slavs (Poles, Slovaks, and Slovenians), however, with particular genetic distinctiveness. The estimated long-term Ne values ranged from ~5900 in the Estonian population to ~2400 in the South Russian population. The divergence times between the Lithuanian and study populations ranged from 240 to 12,871 YBP. We also found evidence of selection in 24 regions, 21 of which have not been discovered in previous analyses of selection. Undoubtedly, the genetic diversity analysis of geographically specific regions may provide new insights into microevolutionary processes affecting local human populations.

Risk factors for child mental health problems in Lithuania: The role of parental nationality.

BACKGROUND: We compare the mental health status of children who reside in Lithuania with parents who are either Lithuanian nationals or non-Lithuanian nationals. METHOD: Data were drawn from the School Child Mental Health Europe survey (SCMHE), a cross-sectional survey of school children aged 6-11years. A total of 1152 Lithuanian children participated, among them 11.7% from a non-Lithuanian family. Child mental health was assessed using the Dominique Interactive (DI) and the parent- and teacher Strength and Difficulties Questionnaire (SDQ). Parental attitudes were evaluated, and socio-demographics were collected. RESULTS: Overall 26.7% of non-Lithuanian versus 17.2% of Lithuanian children reported having an internalizing disorder (p=0.01) mainly due to separation anxiety (16.4% versus 10.2%, p=0.04). Odds ratio (OR) for child-reported internalizing disorders was 1.86 (95% CI=1.17-2.96) once adjusted for other factors including being a girl, to be younger, parental unemployment and low caring and low autonomy parental attitudes which were associated with greater odds of internalizing disorders. In addition, 31.9% of non-Lithuanian reported suicidal thoughts versus 22.0% of Lithuanian children p=.02); OR=1.60 (95% CI=1.04-2.46) once adjusted for single parent, parental unemployment, parental alcohol problems and overreactivity attitude. CONCLUSIONS: Being a non-national minority in Lithuania is a risk factor for child mental health. These findings suggest that further studies are needed to inform local policy-makers on targeted prevention and intervention programs in these children.

Skin diseases in internationally adopted children.

Internationally adopted children often present diseases contracted in the country of origin. Skin diseases are common in new arrivals, and diagnosis may prove challenging for GPs or even dermatologists if they are inexperienced in the extensive geographic and ethnic diversity of international adoptees. To analyse the frequency and characteristics of skin diseases in international adoptees. In total, 142 adoptees were evaluated for a cross-sectional cohort study. The most frequent diseases observed at arrival were dermatological conditions. Of the adoptees, 70% presented at least one skin disease, of which 57.5% were infectious; Tinea capitis being the most frequent (n = 42). The recovery rate of Tinea capitis was 89% (n = 32/36). Ten cases of scabies were diagnosed. Other diseases included viral skin infection (n = 22), with 16 cases of Molluscum contagiosum and bacterial infection. Skin diseases are very common in internationally adopted children. There is a need for close collaboration between dermatologists and paediatricians to diagnose such infections, as well as clear guidelines to treat them.

CNV analysis in the Lithuanian population.

BACKGROUND: Although copy number variation (CNV) has received much attention, knowledge about the characteristics of CNVs such as occurrence rate and distribution in the genome between populations and within the same population is still insufficient. In this study, Illumina 770 K HumanOmniExpress-12 v1.0 (and v1.1) arrays were used to examine the diversity and distribution of CNVs in 286 unrelated individuals from the two main ethnolinguistic groups of the Lithuanian population (Aukstaiciai and Zemaiciai) (see Additional file 3). For primary data analysis, the Illumina GenomeStudio™ Genotyping Module v1.9 and two algorithms, cnvPartition 3.2.0 and QuantiSNP 2.0, were used to identify high-confidence CNVs. RESULTS: A total of 478 autosomal CNVs were detected by both algorithms, and those were clustered in 87 copy number variation regions (CNVRs), spanning ~12.5 Mb of the genome (see Table 1). At least 8.6 % of the CNVRs were unique and had not been reported in the Database of Genomic Variants. Most CNVRs (57.5 %) were rare, with a frequency of <1 %, whereas common CNVRs with at least 5 % frequency made up only 1.1 % of all CNVRs identified. About 49 % of non-singleton CNVRs were shared between Aukstaiciai and Zemaiciai, and the remaining CNVRs were specific to each group. Many of the CNVs detected (66 %) overlapped with known UCSC gene regions. CONCLUSIONS: The ethnolinguistic groups of the Lithuanian population could not be differentiated based on CNV profiles, which may reflect their geographical proximity and suggest the homogeneity of the Lithuanian population. In addition, putative novel CNVs unique to the Lithuanian population were identified. The results of our study enhance the CNV map of the Lithuanian population.

Enveloped Lives: Practicing Health and Care in Lithuania.

This article analyzes informal medical payments that the majority of Lithuanians give or feel compelled to give to doctors before or after treatment. It focuses on how patients and their caretakers encounter, practice, and enact informal payments in health care and how these payments create a reality of health care that is not limited to an economic rationality. Within such a frame, rather than being considered a gift or bribe, it conceptualizes these little white envelopes as a practice of health and care. The article shows how an envelope of money given to a doctor transcends the material patient-doctor transaction and emerges as a productive force for coping with illness, medical encounters, and misfortunes.

Multidrug-resistant tuberculosis in the United Kingdom and Lithuania.

Rates of resistance to first- and second-line drugs in multidrug-resistant tuberculosis (MDR-TB) cases in the United Kingdom were studied during 2010-2012. The highest rates for ethambutol, pyrazinamide and aminoglycosides occurred among patients originating in Eastern Europe, of whom 47% were Lithuanian. Rates of resistance to kanamycin were significantly lower (P < 0.0001) in the Lithuanian National TB Register than among Lithuanian patients resident in the United Kingdom (5% vs. 78%). In 2010, the majority of UK patients of Eastern European origin were located within the London region, whereas in 2011 the majority were located outside this region, a significant change (P = 0.01).

The change in the amount of immunoglobulins as a response to stress experienced by soldiers on a peacekeeping mission.

PURPOSE: Recent studies have demonstrated various changes in systemic and mucosal immunity in people undergoing psychological stress. This study was designated for an assay of associations between the stress experienced by Lithuanian soldiers as a response to changed job conditions (deployment to Afghanistan) and level of immunoglobulins. Salivary and sera immunoglobulin concentrations were assessed and compared before and after the military mission; the associations between the deployment-related stress and the immunoglobulin level were examined. METHODS: Special questionnaires covering state of health and strain experienced were used. Quantitative detection of immunoglobulins was performed by sandwich ELISA. RESULTS: Comparison of the medians at three time points (before, after the deployment and 1 year after the mission) showed an increased level of salivary secretory immunoglobulin A (S-IgA) in association with deployment. Chi-square test of independence indicated statistically significant relationship between the stress and S-IgA amount. Correlation analysis using different health control methods revealed masked fear of soldiers to be expelled from the military service. CONCLUSIONS: The results indicated that salivary S-IgA is the most sensitive representative of mucosal immunity system to psychological stress related to changed job conditions in military service.

"In my opinion, work would be in first place and family in second": young women's imagined gender-work relations in post-Soviet Lithuania.

This article explores young women's orientation to work and motherhood in the post-communist context of radical socio-economic transformation in Europe. Based on a qualitative-explorative study into meanings of work and unemployment among young people in post-Soviet Lithuania, the paper introduces an empirically grounded classification of imagined gender-work arrangements. The single patterns of the classification are based on the three configurations of work and motherhood, work and partnership, and work and provision. The findings inform the reconstruction of the 'landscape' of imagined gendered adulthoods in Europe as well as the analysis of emerging gender relations under conditions of rapid social change.

Population genetics of Y-chromosome STRs in a population sample of the Lithuanian minority residing in the northeastern Poland.

Haplotype and allele frequencies for the 12 Y-STRs were determined in a population sample of 124 unrelated males--members of the Lithuanian minority residing in the northeastern Poland. Three of the haplotypes were encountered in duplicate, while 118 haplotypes were unique. The overall gene diversity was 0.9952. Analysis of molecular variance revealed that the Lithuanian minority can be distinguished from the autochthonous Poles, although these two populations are very close to each other. This database study provides an essential precondition for applying Y-chromosomal STRs estimates in forensic identification of male DNA and tracing of paternal lineages.

Y chromosome and mitochondrial DNA variation in Lithuanians.

The genetic composition of the Lithuanian population was investigated by analysing mitochondrial DNA hypervariable region 1, RFLP polymorphisms and Y chromosomal biallelic and STR markers in six ethnolinguistic groups of Lithuanians, to address questions about the origin and genetic structure of the present day population. There were no significant genetic differences among ethnolinguistic groups, and an analysis of molecular variance confirmed the homogeneity of the Lithuanian population. MtDNA diversity revealed that Lithuanians are close to both Slavic (Indo-European) and Finno-Ugric speaking populations of Northern and Eastern Europe. Y-chromosome SNP haplogroup analysis showed Lithuanians to be closest to Latvians and Estonians. Significant differences between Lithuanian and Estonian Y chromosome STR haplotypes suggested that these populations have had different demographic histories. We suggest that the observed pattern of Y chromosome diversity in Lithuanians may be explained by a population bottleneck associated with Indo-European contact. Different Y chromosome STR distributions in Lithuanians and Estonians might be explained by different origins or, alternatively, be the result of some period of isolation and genetic drift after the population split.

Allele distribution of 15 STR loci in a population sample of the Lithuanian minority residing in the Northeastern Poland.

Allele frequencies for the 15 STRs included in the AmpFlSTR Identifiler kit were determined in a population sample of 140 unrelated individuals of the Lithuanian minority residing in the Northeastern Poland. Departure from the Hardy-Weinberg equilibrium for loci VWA, TPOX and D7S820 did not sustain after applying Bonferroni correction for multiple testing. Exact tests disequilibrium analysis revealed five departures from independence out of 105 pair-wise comparisons. The combined MP and PE for all 15 loci are 5.00 x 10(-17) and 0.9999, respectively.

Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.

G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on disease expression. Index cases from Israel (n=46), South Africa (n=24), Russia (n=7), The Netherlands (n=1), and the United States (n=1) were enlisted. All trace their ancestry to Lithuania. A highly conserved haplotype (D19S221:104-D19S865:208-D19S413:74) was identified in G197del chromosomes, suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the deletion was found to be 20 +/- 7 generations (the 95% confidence interval is 15-26 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 14th century. This corresponds with the founding of the Jewish community of Lithuania (1338 a.d.), as well as with the great demographic expansion of AJ individuals in eastern Europe, which followed this settlement. The penetrance of mutation-linked severe hypercholesterolemia is high (94% of heterozygotes have a baseline concentration of LDL cholesterol (LDL-C) that is >160 mg/dl), and no significant differences in the mean baseline lipid level of G197del carriers from different countries were found. Polymorphisms of apolipoprotein E and of scavenger-receptor class B type I were observed to have minor effects on the plasma lipid profile. With respect to determinative genetic influences on the biochemical phenotype, there is no evidence that could support the possibility of a selective evolutionary metabolic advantage. Therefore, the founder effect in a rapidly expanding population from a limited number of families remains a simple, parsimonious hypothesis explaining the spread of G197del-LDLR-linked FH in AJ individuals.

Population genetics of Lithuanians.

The primary objective of this article was to overview the present-day knowledge on genetic features of the Lithuanian population. Genetic differentiation within the Lithuanian population and the relationship between Lithuanians and other European populations was analysed by means of blood groups, serum protein polymorphisms and DNA markers including mtDNA. The results of the research have shown small differences between present-day Lithuanian ethnolinguistic groups, which probably go back to the prehistoric Baltic tribal structure. The Baltic peoples show a mixture of eastern and western genetic traits, e.g. a high frequency of the blood group B combined with a very high frequency of the Rh-negative blood group. Studies of the Baltic 'tribal gene' LWb indicate the presence of a considerable Baltic admixture in the neighbouring Finno-Ugric and Slavic populations.