MtDNA Haplogroups in the Populations of Croatian Adriatic Islands

The number of previous anthropological studies pointed to very complex ethnohistorical processes that shaped the current genetic structure of Croatian island isolates. The scope of this study was limited to the general insight into their founding populations and the overall level of genetic diversity based on the study mtDNA variation. A total of 444 randomly chosen adult individuals from 32 rural communities of the islands of Krk, Brač, Hvar and Korčula were sampled. MtDNA HVS-I region together with RFLP sites diagnostic for main Eurasian and African mtDNA haplogroups were analysed in order to determine the haplogroup structure. The most frequent haplogroups were »H« (27.8–60.2%), »U« (10.2–24.1%), »J« (6.1–9.0%) and »T« (5.1–13.9%), which is similar to the other European and Near Eastern populations. The genetic drift could have been important aspect in history, as there were examples of excess frequencies of certain haplogroups (11.3% of »I« and 7.5% of »W« in Krk, 10.5% of »HV« in Brač, 13.9% of »J« in Hvar and 60.2% of »H« in Korčula). As the settlements on the islands were formed trough several immigratory episodes of genetically distant populations, this analysis (performed at the level of entire islands) showed greater genetic diversity (0.940–0.972) than expected at the level of particular settlements

A Large Cross-Sectional Study of Health Attitudes, Knowledge, Behaviour and Risks in the Post-War Croatian Population (The First Croatian Health Project*)

As the liberation of occupied Croatian territories ended the war in the country in 1995, the Ministry of Health and Croatian Health Insurance Institute have agreed to create the new framework for developing a long-term strategy of public health planning, prevention and intervention. They provided financial resources to develop the First Cro-atian Health Project, the rest of the support coming from the World Bank loan and the National Institute of Public Health. A large cross-sectional study was designed aiming to assess health attitudes, knowledge, behaviour and risks in the post-war Croatian population. The large field study was carried out by the Institute for Anthropological Research with technical support from the National Institute of Public Health. The field study was completed between 1995–1997. It included about 10,000 adult volunteers from all 21 Croatian counties. The geographic distribution of the sample covered both coastal and continental areas of Croatia and included rural and urban environments. The specific measurements included antropometry (body mass index and blood pressure). From each examinee a blood sample was collected from which the levels of total plasma cholesterol (TC), triglycerides (TG), HDL-cholesterol (High Density Lipoprotein), LDL-cholesterol (Low Density Lipoprotein), lipoprotein Lp(a), and haemostatic risk factor fibrinogen (F) were determined. The detailed data were collected on the general knowledge and attitudes on health issues, followed by specific investigation of smoking history, alcohol consumption, nutrition habits, physical activity, family history of chronic non-communicable diseases and occupational exposures. From the initial database a targeted sample of 5,840 persons of both sexes, aged 18–65, was created corresponding by age, sex and geographic distribution to the general Croatian population. This paper summarises and discusses the main findings of the project within this representative sample of Croatian population

Inbreeding and Learning Disability in Croatian Island Isolates

The aim of this study was to investigate the prevalence of learning disability (LD) in isolate populations with different inbreeding coefficients (F). Prevalence of LD and F were determined in 10 villages from five Croatian islands: Bra~, Hvar, Kor~ula, Lastovo and Susak. For the purpose of this study, LD was defined as the inability to attend the public school system. As the elementary schools (grade 1–8) in the place of the study are both public and compulsory, the assessment of child\u27s inability to attend the school is performed at the age of six. This is required by all children in the country based on standard set of tests of cognitive performance defined by the Ministry of Education and Culture of the Republic of Croatia. The average inbreeding coefficients in each village population (F) were estimated in a random sample of 20–30% adults in each of the 10 villages based on 4 ancestral generations and using Wright\u27s path method. Prevalence of LD ranged from 0.43% to 2.47%, and the inbreeding coefficients ranged from 0.8% to 4.9%. The Pearson\u27s correlation coefficient between F and LD prevalence was 0.80 (p<0.01). Although the relative risk per 5% inbreeding appeared very high (about 10), the absolute risk only increased from 0.18% to 1.77%. The genetic effect of inbreeding (GEI) was approximately 0.69% and the population-attributable fraction 76.6%. A review of the literature and the results of this study lead to a conclusion that a very large number of predominantly recessive genetic factors might mediate the genetic susceptibility to various forms of LD in these populations

Long-term dynamics of aberrant neuronal activity in awake Alzheimer's disease transgenic mice

Alzheimer's disease (AD) is associated with aberrant neuronal activity, which is believed to critically determine disease symptoms. How these activity alterations emerge, how stable they are over time, and whether cellular activity dynamics are affected by the amyloid plaque pathology remains incompletely understood. We here repeatedly recorded the activity from identified neurons in cortex of awake APPPS1 transgenic mice over four weeks during the early phase of plaque deposition using in vivo two-photon calcium imaging. We found that aberrant activity during this stage largely persisted over the observation time. Novel highly active neurons slowly emerged from former intermediately active neurons. Furthermore, activity fluctuations were independent of plaque proximity, but aberrant activity was more likely to persist close to plaques. These results support the notion that neuronal network pathology observed in models of cerebral amyloidosis is the consequence of persistent single cell aberrant neuronal activity, a finding of potential diagnostic and therapeutic relevance for AD

Ventilatory capacity in stone saw-mill workers

Ispitali smo da li brački vapnenac, koji sadrži neznatnu količinu silicija, utječe na poremetnju ventilacijskih funkcija muškaraca zaposlenih u pilani kamena. Ispitane su ventilacijske funkcije: VK, FEV1, FEV 1% VK, MEF25, MEF50, i MEF75, a uzorak ispitanika analiziran je s obzirom na nepušače i pušače. Analiza varijance utvrdila je homogenu raspodjelu parametra VK, dok su ostale bile heterogeno distribuirane. To se može objasniti navikom pušenja kao ponderalnim faktorom, a ne ekspozicijom prašini vapnenca. Pretpostavlja se da proces obrade bračkog vapnenca u pilani kamena ne uzrokuje poremećaj ventilacijskih funkcija.The study aims at assessing whether occupational exposure to Brae limestone, which contains a minute amount of silica, induces disorders of ventilatory capacity. It included 71 male workers employed in a stone saw-mill and 134 controls. The ventilatory functions VC, FEV1, FEY 1% VC, MEF25, MEF50 i MEF75 were examined, and the values analysed in respect to smoking habit. Variance analysis established a homogenous distribution of VC parameters, while others were heterogeneously distributed. This can be explained by smoking habit as assessable factor, and not by exposure to limestone dust. It is assumed that the production of Brae limestone in the stone saw-mill does not cause disorders in ventilatory function

MtDNA Haplogroups in the Populations of Croatian Adriatic Islands

The number of previous anthropological studies pointed to very complex ethnohistorical processes that shaped the current genetic structure of Croatian island isolates. The scope of this study was limited to the general insight into their founding populations and the overall level of genetic diversity based on the study mtDNA variation. A total of 444 randomly chosen adult individuals from 32 rural communities of the islands of Krk, Brač, Hvar and Korčula were sampled. MtDNA HVS-I region together with RFLP sites diagnostic for main Eurasian and African mtDNA haplogroups were analysed in order to determine the haplogroup structure. The most frequent haplogroups were »H« (27.8–60.2%), »U« (10.2–24.1%), »J« (6.1–9.0%) and »T« (5.1–13.9%), which is similar to the other European and Near Eastern populations. The genetic drift could have been important aspect in history, as there were examples of excess frequencies of certain haplogroups (11.3% of »I« and 7.5% of »W« in Krk, 10.5% of »HV« in Brač, 13.9% of »J« in Hvar and 60.2% of »H« in Korčula). As the settlements on the islands were formed trough several immigratory episodes of genetically distant populations, this analysis (performed at the level of entire islands) showed greater genetic diversity (0.940–0.972) than expected at the level of particular settlements

The case for launch of an international DNA-based birth cohort study

The global health agenda beyond 2015 will inevitably need to broaden its focus from mortality reduction to the social determinants of deaths, growing inequities among children and mothers, and ensuring the sustainability of the progress made against the infectious diseases. New research tools, including technologies that enable high-throughput genetic and ‘-omics’ research, could be deployed for better understanding of the aetiology of maternal and child health problems. The research needed to address those challenges will require conceptually different studies than those used in the past. It should be guided by stringent ethical frameworks related to the emerging collections of biological specimens and other health related information. We will aim to establish an international birth cohort which should assist low- and middle-income countries to use emerging genomic research technologies to address the main problems in maternal and child health, which are still major contributors to the burden of disease globally

Spousal concordance in adverse childhood experiences and the association with depressive symptoms in middle-aged and older adults: findings across China, the US, and Europe

Copyright \ua9 2023 Sun, Ren, Zhu, Cheng, Liu, Li, Xia, Yuan, Adeloye, Rudan, Canoy, Song, on behalf of the Global Health Epidemiology Research Group (GHERG). Background: Adverse childhood experiences (ACEs) are associated with higher depressive risks in adulthood. Whether respondents’ ACEs are associated with their own depressive symptoms in adulthood and whether this association extends to their spouses’ depressive symptoms remain unexplored. Methods: Data were from China Health and Retirement Longitudinal Study (CHARLS), the Health and Retirement Study (HRS), and the Survey of Health, Ageing and Retirement in Europe (SHARE). ACEs were categorized into overall, intra-familial, and extra-familial ACEs. Correlations of couples’ ACEs were calculated using Cramer’s V and partial Spearman’s correlation. Associations of respondents’ ACEs with spousal depressive symptoms were assessed using logistic regression, and mediation analyses were conducted to explore the mediating role of respondents’ depressive symptoms. Results: Significant associations between husbands’ ACEs and wives’ depressive symptoms, with odds ratios (ORs) and 95% confidence intervals (CIs) of 2.09 (1.36–3.22) for 4 or more ACEs in CHARLS, and 1.25 (1.06–1.48) and 1.38 (1.06–1.79) for 2 or more ACEs in HRS and SHARE. However, wives’ ACEs were associated with husbands’ depressive symptoms only in CHARLS and SHARE. Findings in intra-familial and extra-familial ACEs were consistent with our main results. Additionally, respondents’ depressive symptoms mediated more than 20% of the effect of respondents’ ACEs on spousal depressive symptoms. Conclusion: We found that ACEs were significantly correlated between couples. Respondents’ ACEs were associated with spousal depressive symptoms, with respondents’ depressive symptoms mediating the association. The bidirectional implications of ACEs on depressive symptoms should be considered within household and effective interventions are warranted

Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders

BACKGROUND: Type II DNA topoisomerases (TOP2) regulate DNA topology by generating transient double stranded breaks during replication and transcription. Topoisomerase II beta (TOP2B) facilitates rapid gene expression and functions at the later stages of development and differentiation. To gain new insight into the genome biology of TOP2B, we used proteomics (BioID), chromatin immunoprecipitation, and high-throughput chromosome conformation capture (Hi-C) to identify novel proximal TOP2B protein interactions and characterize the genomic landscape of TOP2B binding at base pair resolution. RESULTS: Our human TOP2B proximal protein interaction network included members of the cohesin complex and nucleolar proteins associated with rDNA biology. TOP2B associates with DNase I hypersensitivity sites, allele-specific transcription factor (TF) binding, and evolutionarily conserved TF binding sites on the mouse genome. Approximately half of all CTCF/cohesion-bound regions coincided with TOP2B binding. Base pair resolution ChIP-exo mapping of TOP2B, CTCF, and cohesin sites revealed a striking structural ordering of these proteins along the genome relative to the CTCF motif. These ordered TOP2B-CTCF-cohesin sites flank the boundaries of topologically associating domains (TADs) with TOP2B positioned externally and cohesin internally to the domain loop. CONCLUSIONS: TOP2B is positioned to solve topological problems at diverse cis-regulatory elements and its occupancy is a highly ordered and prevalent feature of CTCF/cohesin binding sites that flank TADs