Depression is a worldwide public health concern. The World Health Organization (WHO) has recently recommended the implementation of programs for strengthening subjective well-being (SWB) to reduce ...mental disorders, including depression. Also, in 2013, European member-states agreed on a single measure of SWB, i.e., life satisfaction, for monitoring the progress of SWB in the WHO health policy framework, "Health 2020." Life satisfaction is strongly associated with depression; therefore, its use as health indicator could be suitable to identify individuals at risk for depression. Critical to this use of life satisfaction to target also depression is knowledge on the nature of the association between the two throughout the lifespan and by gender. This study aims at contributing to the knowledge about this association in a sample of 51 individuals screened for major depressive disorder (MDD) and dysthymic disorder (Dys). All individuals were administered the Primary Care Screener for Affective Disorders and the Satisfaction With Life Scale (SWLS). Among individuals negative for MDD or Dys, women displayed similar satisfaction compared with men, whereas among individuals positive for MDD or Dys, women showed greater satisfaction compared with men, whose score denoted life dissatisfaction. Consistently, the regression model for SWLS revealed a significant main effect of positivity for MDD or Dys on life satisfaction as well as a significant interaction between positivity for MDD or Dys and gender. The results of this study do not support the notion that satisfaction with life and depressive symptoms could belong to highly related dimensions, at least among female individuals.
In differentiated cells, aging is associated with hypermethylation of DNA regions enriched in repressive histone post-translational modifications. However, the chromatin marks associated with changes ...in DNA methylation in adult stem cells during lifetime are still largely unknown. Here, DNA methylation profiling of mesenchymal stem cells (MSCs) obtained from individuals aged 2 to 92 yr identified 18,735 hypermethylated and 45,407 hypomethylated CpG sites associated with aging. As in differentiated cells, hypermethylated sequences were enriched in chromatin repressive marks. Most importantly, hypomethylated CpG sites were strongly enriched in the active chromatin mark H3K4me1 in stem and differentiated cells, suggesting this is a cell type-independent chromatin signature of DNA hypomethylation during aging. Analysis of scedasticity showed that interindividual variability of DNA methylation increased during aging in MSCs and differentiated cells, providing a new avenue for the identification of DNA methylation changes over time. DNA methylation profiling of genetically identical individuals showed that both the tendency of DNA methylation changes and scedasticity depended on nongenetic as well as genetic factors. Our results indicate that the dynamics of DNA methylation during aging depend on a complex mixture of factors that include the DNA sequence, cell type, and chromatin context involved and that, depending on the locus, the changes can be modulated by genetic and/or external factors.
The rapid spread of the new Coronavirus and the consequent restrictions to contain transmission generated an unprecedented psychological impact on the general population. The Italian Twin Registry ...performed a longitudinal study to investigate to what extent genetic and environmental influences contributed to changes in depressive symptoms.
Data from adult twins were collected. All participants completed an online questionnaire including the 2-item Patient Health Questionnaire (PHQ-2) just before (February 2020) and immediately after the Italian lockdown (June 2020). Genetic modeling based on Cholesky decomposition was used to estimate the role of genetic (A) and both shared (C) and unshared (E) environmental factors in the observed longitudinal course of depressive symptoms.
Longitudinal genetic analysis was based on 348 twin pairs (215 monozygotic and 133 dizygotic pairs) with a mean age of 42.6 years (range 18-93 years). An AE Cholesky model provided heritability estimates for depressive symptoms of 0.24 and 0.35 before and after the lockdown period, respectively. Under the same model, the observed longitudinal trait correlation (0.44) was approximately equally contributed by genetic (46%) and unshared environmental (54%) influences, while longitudinal environmental correlation was lower than genetic correlation (0.34 and 0.71, respectively).
Although the heritability of depressive symptoms was rather stable across the targeted time window, different environmental as well as genetic factors seemed to act before and after the lockdown, which suggests possible gene-environment interaction.
Introduction: It is widely recognized that extreme climatic conditions during summer months may constitute a major public health threat. Owing to what is called the “urban heat island effect,” as ...well as to the consequences of heat waves on health, individuals living in cities have an elevated risk of death when temperature and humidity are high compared to those living in suburban and rural areas. Studies on heat wave-related mortality have further demonstrated that the greatest increases in mortality occur in the elderly. Following the unusually hot summer of 2003 and the dramatic news from neighboring countries such as France, the Italian Minister of Health requested the Istituto Superiore di Sanità-Bureau of Statistics to undertake an epidemiologic study of mortality in Italy during Summer 2003 to investigate whether there had been an excess of deaths, with a particular focus on the elderly population.
Materials and methods: Communal offices, which maintain vital statistics, were asked for the individual records of death of residents registered daily during the period 1 June–31 August 2003 and during the same period of 2002 for each of the 21 capitals of the Italian regions. As it was necessary to obtain mortality data quickly from many municipalities and to make the analysis as soon as possible, the method adopted was comparison of mortality counts during the heat wave with figures observed during the same period of the previous year.
Results: Compared with 2002, between 1 June and 31 August 2003, there was an overall increase in mortality of 3134 (from 20,564 to 23,698). The greatest increase was among the elderly; 2876 deaths (92%) occurred among people aged 75 years and older, a more than one-fifth increase (21.3%, from 13.517 to 16.393%). The highest increases were observed in the northwestern cities, which are generally characterized by cold weather, and in individuals 75 years and older: Turin (44.9%), Trento (35.2%), Milan (30.6%), and Genoa (22.2%). Of note are also the increases observed in two southern cities, L’Aquila (24.7%) and Potenza (25.4%), which are located, respectively, at 700 and 800
m above see level. For Bari and Campobasso, both in the South, with a typically hot summer climate, the increase during the last 15 days of August was 186.2 and 450%, respectively.
Conclusions: The relationship between mortality and discomfort due to climatic conditions as well as the short lag time give a clear public health message: preventive, social, and health care actions must be administered to the elderly and the frail to avoid excess deaths during heat waves.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Collecting post-mortem brain tissue is essential, especially from healthy "control" individuals, to advance knowledge on increasingly common neurological and mental disorders. Yet, healthy ...individuals, on which this study is focused, are still understudied. The aim of the study was to explore, among healthy potential brain donors and/or donors' relatives, attitude, concerns and opinion about post-mortem brain donation (PMBD).
A convenience sampling of the general population (twins and their non-twin contacts) was adopted. From June 2018 to February 2019, 12 focus groups were conducted in four Italian cities: Milan, Turin, Rome and Naples, stratified according to twin and non-twin status. A qualitative content analysis was performed with both deductive and inductive approaches. Emotional interactions analysis corroborated results.
One hundred and three individuals (49-91 yrs of age) participated. Female were 60%. Participants had scarse knowledge regarding PMBD. Factors affecting attitude towards donation were: concerns, emotions, and misconceptions about donation and research. Religion, spirituality and secular attitude were implied, as well as trust towards research and medical institutions and a high degree of uncertainty about brain death ascertainment. Family had a very multifaceted central role in decision making. A previous experience with neurodegenerative diseases seems among factors able to favour brain donation.
The study sheds light on healthy individuals' attitudes about PMBD. Brain had a special significance for participants, and the ascertainment of brain death was a source of debate and doubt. Our findings emphasise the importance of targeted communication and thorough information to promote this kind of donation, within an ethical framework of conduct. Trust in research and health professionals emerged as an essential factor for a collaborative attitude towards donation and informed decision making in PMBD.
Background and Objectives: Non-cancer chronic pain (CP) results from the interaction between genetic and environmental factors. Twin studies help to estimate genetic and environmental contributions ...to complex traits such as CP. To date, twin studies on the heritability of pain phenotypes have relied almost exclusively on specific diagnoses, neglecting pain intensity. This study aims to estimate the genetic and environmental contributions to CP occurrence as a wide phenotype and its intensity among a non-clinical population. Materials and Methods: A nationwide online survey was conducted in February 2020 on 6000 adult twins enrolled in the Italian Twin Registry. A five-item questionnaire, designed and validated by our study group, was administered to detect the CP condition along with its intensity, underlying causes or triggers, treatments, and self-perceived efficacy. The twin study design was used to infer the relative weight of genes and environment on CP occurrence and intensity, and biometrical modelling was applied to these phenotypes. Results: A total of 3258 twins, aged ≥18, replied to the online survey (response rate 54%). These included 762 intact pairs (mean age: 39 years; age range: 18–82 years; 34% male; CP prevalence: 24%), of whom 750 pairs were subjected to biometrical modelling after the exclusion of pairs with either unknown zygosity or cancer-associated CP. Broad-sense heritability estimates were driven by non-additive genetic effects and were 0.36 (0.19–0.51) for CP occurrence and 0.31 (0.16–0.44) for CP intensity. No evidence emerged for either sex differences in genetic and environmental variance components or interactions of these components with age. Conclusions: Moderate non-additive genetic components were suggested for non-cancer CP occurrence and its intensity. These results encourage further research on the gene–gene interactions underlying CP liability and associated phenotypes, and also strengthen the need for prevention strategies to avoid CP occurrence or to decrease pain intensity.
Fibromyalgia symptoms affect the sufferers' working life; however, through reasonable accommodations in workplaces, they can continue to work satisfactorily. There are no Italian studies on factors ...that facilitate or hinder fibromyalgia-affected people's working life. Our objective was to explore, in a pre-pandemic setting, the quality of working life of fibromyalgia sufferers and reasonable accommodations to improve it. Quantitative and qualitative methods were applied; a survey-questionnaire, participatory-developed, was online-administered to a sample of self-reported FM sufferers (N = 1176). Then, two Focus Groups (FGs), involving 15 fibromyalgia-affected women, were held. Data were analyzed by a thematic analysis approach. Among survey-respondents, 20% were unemployed and only 14% went to work gladly. Variability of pain (84%) and fatigue (90%) were the most perceived reasons for difficulties at work. Negative relationships at work were reported by most participants. The FGs' discussions addressed different strategies for overcoming the main obstacle of "not being believed by colleagues and employers" and reasonable accommodations. However, a negative hopeless attitude towards the solution of problems at work was also apparent. Different critical issues in the workplace emerged from the survey and the FGs. Coordinated actions, according to a transdisciplinary approach, are needed to manage fibromyalgia-induced difficulties in the workplace.
Abstract Background In recent years, several twin studies adopted a dimensional approach to Autism Spectrum Disorders (ASD) and estimated the contribution of genetic and environmental influences to ...variation in autistic traits. However, no study was performed on adults over 18 years of age and all but two studies were based on parent or teacher ratings. Also, the genetic and environmental contributions to the interplay between autistic traits and adult personality dimensions have not been investigated. Methods A sample of 266 complete twin pairs (30% males, mean age 40 ± 12 years) drawn from the population-based Italian Twin Register was administered the Autism-Spectrum Quotient, Temperament and Character Inventory (TCI-125), and General Health Questionnaire (GHQ-12). Genetic structural equation modelling was performed with the Mx program. Estimates were adjusted for gender, age, and GHQ-12 score. Results Genetic factors accounted for 44% and 20%–49% of individual differences in autistic traits and TCI dimensions, respectively. Unshared environmental factors explained the remaining proportion of variance. Consistently with the notion of a personality profile in ASD characterised by obsessive temperament, autistic traits showed significant phenotypic correlations with several TCI dimensions (positive: HA; negative: NS, RD, SD, C). Genetic and unshared environmental correlations between AQ and these TCI dimensions were significant. The degree of genetic overlap was generally greater than the degree of environmental overlap. Conclusions Despite some limitations, this study suggests that genetic factors contribute substantially to individual differences in autistic traits in adults, with unshared environmental influences also playing an important role. It also suggests that autistic traits and the majority of temperament and character dimensions share common genetic and environmental aetiological factors.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
The Italian National Institute of Health (Istituto Superiore di Sanità) funded a 30-month project (July 2021-January 2024) to conduct a twin study of the relationships between Positive Mental Health ...(PMH) and cellular longevity. Only a few previous studies have focused on the biomarkers of aging in relation to psychological well-being, and none of them exploited the potential of the twin design.
In this project, following the standard procedures of the Italian Twin Registry (ITR), we aim to recruit 200 adult twin pairs enrolled in the ITR. They are requested to complete a self-report questionnaire battery on PMH and to undergo a blood withdrawal for the assessment of aging biomarkers, i.e., telomere length and mitochondrial DNA functionality. The association between psychological and aging biomarker measures will be assessed, controlling for genetic and familial confounding effects using the twin study design.
Biomarker assays are underway. Once data are available for the total study sample, statistical analyses will be performed. The project's results may shed light on new mechanisms underlying the mind-body connection and may prove helpful to promote psychological well-being in conjunction with biological functioning.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
The Italian Twin Register has been in place for more than 10 years. Since its establishment, it has been focusing, on the one hand, on a continuous update of the existing information, and on the ...other hand, on new phenotypes and sample collection. Demographic data on about 140,000 twins have been updated using the municipality registries. The Italian Twin Register has been carrying out several new studies during the last few years. A birth cohort of twins, Multiple Births Cohort Study, has been started and the enrollment is ongoing. For this cohort, data on pregnancy and birth are collected, and periodical follow-ups are made. DNA is being collected for the twins and their parents. In the area of behavioral genetics, most efforts have been directed to psychological well being assessed with self-reported tools. Research on age-related traits continues with studies on arteriosclerosis development, early biomarkers in mild cognitive impairment, and the relation between lifestyle habits and mutagen sensitivity. The Italian Twin Register biobanking has grown in its size and in its know-how in terms of both technical issues and ethical procedures implementation. Furthermore, attitudes toward biobank-based research, together with willingness and motivation for donation, are being investigated. A valuable key resource for the Italian Twin Register is the possibility of linking twin data with disease registries. This approach has been yielding several important results, such as the recent study on the heritability of type 1 diabetes.
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