Maria Antonietta Stazi

• Istituto Superiore di Sanità

Due to the increasing importance of exposome in environmental epidemiology, feasibility and usefulness of an Environmental Data Management System (EDMS) using Open Data was evaluated. The EDMS includes data from 10 European cities (Celje (Slovenia), Łódź (Poland), Manchester (UK), Palermo (Italy), Paris (France), Porto (Portugal), Regensburg (Germa...

Background 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...

The brain’s intrinsic organization into large-scale functional networks, the resting state networks (RSN), shows complex inter-individual variability, consolidated during development. Nevertheless, the role of gene and environment on developmental brain functional connectivity (FC) remains largely unknown. Twin design represents an optimal platform...

Data on the etiological factors underlying the co-occurrence of Cognitive Disengagement Syndrome (CDS) with anxiety symptoms are very limited. The present study investigated the nature of latent shared etiological elements in 400 Italian twin pairs aged 8-18, explaining the covariation between CDS and anxiety symptoms. Preliminary analysis demonstr...

Background 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 symptom...

The frequency with which Internalizing and Externalizing symptoms co-occur suggests that, behind both domains, there may be a common susceptibility represented by a general psychopathology factor. However, it’s still unclear whether this common susceptibility is affected by age-related variations. Internalizing (i.e., Fear and Distress) and Externa...

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, neglect...

The brain intrinsic organization into large-scale functional networks, the resting state networks (RSN), shows a complex inter-individual variability, consolidated during development. Nevertheless, the role of genetic and environmental factors on developmental brain functional connectivity (FC) remains largely unknown. Twin design represents an opt...

Importance: People conceived using assisted reproductive technology (ART) make up an increasing proportion of the world's population. Objective: To investigate the association of ART conception with offspring growth and adiposity from infancy to early adulthood in a large multicohort study. Design, setting, and participants: This cohort study...

Background Chronic pain (CP) prevalence estimates addressing a wide phenotype are still quite fragmented and may vary widely due to the lack of standardized tools of investigation. There is an urgent need to update general population CP estimates. Methods For this purpose, the Brief Five-item Chronic Pain Questionnaire was developed through expert...

Several longitudinal studies investigated changes in mental health related to the pandemic event. However, little research has focused on the mediating role of environmental and genetic factors. The current prospective study aimed to evaluate the genetic and environmental contributions to the stability of symptoms of depression, anxiety and stress...

In a time when Europe is preparing to introduce new regulations on privacy protection, we conducted a survey among 1700 twins enrolled in the Italian Twin Register about the access and use of their medical records for public health research without explicit informed consent. A great majority of respondents would refuse or are doubtful about the acc...

Importance People conceived using assisted reproductive technology (ART) make up an increasing proportion of the world’s population, and their numbers are expected to continue rising. Objective Investigate association of ART conception with growth and adiposity outcomes from infancy to early adulthood in offspring from a large multinational multi-...

Background Air pollution exposure in pregnancy can cause molecular level alterations that might influence later disease susceptibility. Objectives We investigated DNA methylation (DNAm) and telomere length (TL) in the cord blood in relation to gestational PM10 exposure and explored potential gestational windows of susceptibility. Methods Cord blo...

No previous research explored the genetic and environmental structure of Big Five dimensions of personality and higher-order factors in a single twin study, except, in part, for just one study. We used the twin design to estimate the effects of genes and environment on both Five Factor model and related second- and third-order factors (i.e., Alpha...

Objective Evidence of the effects of long-term fine particulate matter (PM2.5) exposure on hypertension and blood pressure is limited for populations exposed to high levels of PM2.5. We aim to assess associations of long-term exposure to PM2.5 with hypertension prevalence and blood pressure, and further explore the subpopulation differences and eff...

Background: Psoriatic disease is a multifactorial inflammatory condition spanning from skin and nail psoriasis (Pso) to spine and joint involvement characterizing psoriatic arthritis (PsA). Monozygotic twins provide a model to investigate genetic, early life environmental exposure and stochastic influences to complex diseases, mainly mediated by ep...

Background Italy was one of the first countries to be heavily hit by the spread of the new Coronavirus. Longitudinal studies are needed to investigate the real effect of COVID-19 on adult mental health. The Italian Twin Registry carried out a study to investigate, over time, the course of depressive symptoms in the general population. Methods : Th...

Data on the etiological factors underlying the co-occurrence of common adolescent pain with anxiety and depression symptoms are very limited. Opioid prescriptions for adolescent pain problems are on the rise in North America and constitute a risk factor for diversion, misuse, and substance use. In this study, we aimed to investigate the phenotypic...

Human longevity may be found in single individuals as well as in the population as a whole (“population longevity”). Longevity Blue Zones (LBZs), which are areas with an unusually high number of oldest old, have been identified in Sardinia and the Greek island of Ikaria. We compared the lifestyle, health status and some genetic markers of the LBZ p...

Introduction: Italy, one of the first countries to be heavily hit by the spread of the new Coronavirus, has activated precautionary measures aimed at limiting its spread. This emergency situation may be cause of psychological distress in the general population. Therefore, the Italian Twins Registry has decided to carry out an epidemiological study...

Higher levels of anger expression, as well as lower levels of anger control, have been reported for adults with anxiety disorders compared to individuals without anxiety disorders. Different to the research on adults, very few studies examined the relationship between anxiety and anger in childhood. In our study, we investigated 398 Italian twin pa...

Background: Research based on biological material with linked health and clinical data may produce new strategies for disease prevention, diagnosis and treatment. A survey was conducted among individuals previously screened for major depressive disorder (MDD) to explore participants' attitude towards research biobanking. Methods: The survey used...

Background Exposure to air pollution during the first 1000 days of life (from conception to the 2nd year of life) might be of particular relevance for long-term child health. Changes in molecular markers such as DNA methylation and telomere length could underlie the association between air pollution exposure and pollution-related diseases as well a...

Background The mechanism underlying the association between personality profile and subclinical atherosclerosis is poorly understood. This study explores the association between personality, carotid atherosclerosis and arterial stiffness, and the contribution of genes and environment to this association. Methods Early atherosclerotic traits, inclu...

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children worldwide, and also the recognition of its persistence into adulthood is increasing. While ADHD in childhood is highly heritable and mostly driven by familial factors, during adulthood it appears to show a lower heritability, even if there is not tot...

Background: Research based on the use of biological material stored in biobanks together with health information and clinical data may produce new strategies for prevention, early detection, accurate diagnoses, and tailored treatments. A postal survey on the knowledge and attitude towards research biobanking was conducted among a sample of individu...

Introduction: Recent research focused on the interaction between land cover and the development of allergic and respiratory disease has provided conflicting results and the underlying mechanisms are not fully understood. In particular, green space, which confers an overall positive impact on general health, may be significantly contributing to adv...

The Italian Twin Registry (ITR), established in 2001, is a population-based registry of voluntary twins. To date, it consists of approximately 29,000 twins who gave their consent to participate in the studies proposed by the ITR research group. The database comprises 11,500 monozygotic and 16,700 dizygotic twins resident throughout the country and...

Traditional exposure studies provide valuable insights for epidemiology, toxicology, and risk assessment. Throughout their lives, individuals are exposed to thousands of stressors in the environment which are not static, but influenced by environmental, temporal, spatial, and even socio-demographic factors. Existing exposure studies have usually fo...

Background Wheezing and infections are common during infancy, and the role of early‐life exposures in their development is still under investigation. We examined associations between maternal mental health in pregnancy and after delivery and subsequent offspring wheezing and infections. Methods We studied 2314 mother‐child pairs recruited in the P...

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...

Aim: This study explores the association between sleep quality and emotional regulation, and investigates the genetic and environmental bases of this association. Methods: Three-hundred-eighty-two adolescent twins, from the Italian Twin Registry, and their parents filled the Youth Self-Report and Child Behavior Checklist questionnaires, from whi...

Morphological and hemodynamic variations of the circle of Willis (CW) may have an important impact on cerebrovascular events. However, the environmental and genetic influence remains unclear. For this reason we studied the variations and hemodynamic parameters of the CW in twins using transcranial color-coded sonography (TCCS). Sixty-four twins, 19...

Background Smokers tend to weigh less than never smokers, while successful quitting leads to an increase in body weight. Because smokers and non-smokers may differ in genetic and environmental family background, we analysed data from twin pairs in which the co-twins differed by their smoking behaviour to evaluate if the association between smoking...

Individual-based and within-pair associations of former smoking with BMI compared with never smoking (reference) in twin individuals and in same-sex smoking discordant twin pairs (Twin1 = former / Twin2 = never) in the CODATwins database by sex, zygosity and time period. a Adjusted (age, age2 and twin cohort) linear regression coefficient with 95%...

Contact information for the 21 twin cohorts. (DOCX)

Sex-specific mean body mass index (BMI) values and standard deviations (SD) by smoking status, region, and the twin cohort (country) in the CODATwins database with 230,378 BMI and smoking observations. (DOCX)

Individual-based and within-pair associations of current smoking with BMI compared with never smoking (reference) in twin individuals and in same-sex smoking discordant twin pairs (Twin1 = current / Twin2 = never) in the CODATwins database by sex, zygosity and time period. a Adjusted (age, age2 and twin cohort) linear regression coefficient with 95...

Individual-based and within-pair associations of former smoking with BMI compared with current smoking (reference) in twin individuals and in same-sex smoking discordant twin pairs (Twin1 = former / Twin2 = current) in the CODATwins database by sex, zygosity and time period. a Adjusted (age, age2 and twin cohort) linear regression coefficient with...

Background: We aimed at evaluating the impact of genetic and environmental factors on longitudinal changes in aortic pulse wave velocity (aPWV) and aortic augmentation index (aAIx). Method: Three hundred and sixty-eight Italian and Hungarian adult twins (214 monozygotic, 154 dizygotic) underwent repeated evaluations of aPWV and aAIx (TensioMed A...

Background There is evidence that birth weight is positively associated with education, but it remains unclear whether this association is explained by familial environmental factors, genetic factors or the intrauterine environment. We analysed the association between birth weight and educational years within twin pairs, which controls for genetic...

Background: The genetic architecture of birth size may differ geographically and over time. We examined differences in the genetic and environmental contributions to birthweight, length and ponderal index (PI) across geographical-cultural regions (Europe, North America and Australia, and East Asia) and across birth cohorts, and how gestational age...

[This corrects the article DOI: 10.1371/journal.pone.0192948.].

BACKGROUND: There is evidence that birth size is positively associated with height in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment. AIM: To analyze the associations of birth weight, length and ponderal index with height from infancy through adulthood within mono- and dizygotic twin...

It is well established that boys are born heavier and longer than girls, but it remains unclear whether birth size in twins is affected by the sex of their co-twin. We conducted an individual-based pooled analysis of 21 twin cohorts in 15 countries derived from the COllaborative project of Development of Anthropometrical measures in Twins (CODATwin...

Empathy plays a central role in prosocial behavior and human cooperation. Very few twin researchers have investigated innate and environmental effects in adult empathy, and twin research on gender differences in these effects is sparse. The goal of this study was to examine innate and environmental influences on three components of an empathy scale...

Background: There is evidence that birth size is positively associated with height in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment. Aim: To analyze the associations of birth weight, length and ponderal index with height from infancy through adulthood within mono- and dizygotic tw...

To disentangle genetic and environmental influences on the development of femoral plaques using a population of adult twins. To evaluate the potential role of shared genetic and environmental factors in the co-occurrence of femoral and carotid plaques. The sample included 566 twins belonging to 164 monozygotic (MZ) and 119 dizygotic (DZ) twin pairs...

Aims The elasticity of the internal jugular vein (IJV) is a major determinant of cerebral venous drainage and right atrium venous return. However, the level of genetic determination of IJV dimensions, compliance and distensibility has not been studied yet. Methods 170 adult Caucasian twins (43 monozygotic [MZ] and 42 dizygotic [DZ] pairs) were inv...

Diameters of the inner jugular vein measured ultrasonographically. Original data measured on twins. Anonimous Italian twin registry codes are shown. F, female, M, male, MZ, monozygotic, DZ, dizygotic twin pairs. Sit, sitting, Sup, supine body positions. Vals, during 60 mmHg Valsalva test, no Vals, without it with normal breathing. MLD, mediolateral...

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) leading to demyelination and neurodegeneration. It is believed to be caused by the interaction between genetic susceptibility and environmental factors.Evidence from several epidemiological and clinical studies suggested that changes in metal levels and ox...

Background The comparison of traits in twins from opposite-sex (OS) and same-sex (SS) dizygotic twin pairs is considered a proxy measure of prenatal hormone exposure. To examine possible prenatal hormonal influences on anthropometric traits, we compared mean height, body mass index (BMI), and the prevalence of being overweight or obese between men...

Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was...

Background: Genes and the environment contribute to variation in adult body mass index [BMI (in kg/m²)], but factors modifying these variance components are poorly understood. Objective: We analyzed genetic and environmental variation in BMI between men and women from young adulthood to old age from the 1940s to the 2000s and between cultural-geogr...

Background: Genes and the environment contribute to variation in adult body mass index [BMI (in kg/m²)], but factors modifying these variance components are poorly understood. Objective: We analyzed genetic and environmental variation in BMI between men and women from young adulthood to old age from the 1940s to the 2000s and between cultural-geogr...

Autoimmunity and chronic inflammation recognize numerous shared factors and, as a result, the resulting diseases frequently coexist in the same patients or respond to the same treatments. Among the convenient truths of autoimmune and chronic inflammatory diseases, there is now agreement that these are complex conditions in which the individual gene...

Background: There is evidence that birthweight is positively associated with body mass index (BMI) in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment. We analysed the association between birthweight and BMI from infancy to adulthood within twin pairs, which provides insights into the...

Background and purpose: In contrast with the carotid arteries, the vertebral arteries (VAs) show considerable variation in length, caliber, and vessel course. This study investigated whether the variation in diameter and flow characteristics of the VAs might be inherited. Methods: A total of 172 Italian twins from Padua, Perugia, and Terni (54 m...

The role of genes and environment in the relation between self-regulation and adjustment is unclear. We investigated, with the twin design, genetic and environmental components of the association between effortful control (EC) and indicators of psychological adjustment using adolescents’ and parents’ reports for 774 twins. Genetic factors explained...

Background: The measurement of femoral intima-media thickness (IMT) is underutilized in the clinical practice, although it is a surrogate marker of cardiovascular disease. Materials and methods: 388 Hungarian and Italian twins (121 monozygotic, 73 dizygotic pairs) underwent bilateral B-mode sonography of femoral arteries. IMT was measured by sem...

Supplementary tables. (A) Height variance explained by additive genetic, shared environmental and unique environmental factors by birth year, sex and geographic-cultural region. (B) Model fit statistics for adult height by birth-year cohorts (all twin cohorts together). (C) Height variance and proportion of height variance explained by additive gen...

Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886–1994. Although genetic variance showed a generally increasing trend across th...

Background: Both genetic and environmental factors are known to affect body mass index (BMI), but detailed understanding of how their effects differ during childhood and adolescence is lacking. Objectives: We analyzed the genetic and environmental contributions to BMI variation from infancy to early adulthood and the ways they differ by sex and...

Height variation is known to be determined by both genetic and environmental factors, but a systematic description of how their influences differ by sex, age and global regions is lacking. We conducted an individual-based pooled analysis of 45 twin cohorts from 20 countries, including 180,520 paired measurements at ages 1–19 years. The proportion o...

Donation of human tissues for research and ELSI (ethical, legal, and social issues) of biobanking are increasingly debated issues. While several studies have highlighted patients' concerns, little is known about opinions and preferences of healthy potential donors. Further investigations in this respect may allow communication procedures tailored t...

Inefficient response to oxidative stress has been associated with ageing and health risk. Metals are known to inhibit DNA repair and may modify the antioxidant response. How genetic variability and lifestyle factors modulate the response to oxidative stress is poorly explored. Our study aims to disentangle the contribution of genetics and environme...

Background: The short version of the Temperament and Character Inventory (TCI-125) has been employed for the study of personality traits in both clinical and normal populations. However, to the best of our knowledge, no studies explored the psychometric properties of this instrument in healthy individuals across the lifespan. We here provide the I...

We compared intima–media thickness (IMT) and the prevalence of plaques in the common carotid artery (CCA) and common femoral artery (CFA) in apparently healthy participants. This multicenter study included 322 participants (59.9% female; age 20-78 years, mean 52.1 ± 15.3 years) who underwent Echo-color Doppler examination of the CCA and CFA bilater...

The assessment of schizotypy allows to identify people at risk to develop psychosis. For this purpose, psychometric tools have been developed, such as the Magical Ideation Scale (MIS). This scale investigates attenuated forms of thought transmission experiences, thought withdrawal and aberrant beliefs, related to positive schizotypy. This study aim...

This study aims to: (i) estimate genetic and environmental components of four early respiratory diseases and (ii) test if these components are modified by parental smoking exposure. Study subjects were 2068 Italian twins aged 3-17. We performed biometric modeling under the assumptions of the twin design. For bronchitis and bronchiolitis, variance w...

This study investigated the effects of gestational age and birth weight on the risk of childhood type 1 diabetes (T1D) in a large population-based cohort including nearly all births in Sweden over four decades. A quite unique approach has been performed applying both cohort and sibling control designs within the same population. The study suggests...

A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an i...

This review includes relevant twin studies conducted on eating habits and preferences, and on endophenotypes of disordered eating behaviour in general population, non-clinical settings. The twin study design is presented, along with its assumptions and possible applications in aetiological and public health epidemiology. Subsequently, the strategy...

Femoral atherosclerosis, a major cause of peripheral artery disease, has been associated with higher cardiovascular risk in lower extremity peripheral arterial disease patients. The purpose of our study was to assess the effects of the heritable components of atherosclerotic plaque formation in the femoral artery. 161 Hungarian and Italian twin pai...

Objective: Left ventricular mass (LVM) and its major anthropometric and hemodynamic determinants (body size, blood pressure, stroke volume) are all highly genetically determined. Independently from its absolute value, the amount of LVM that adapts to measures of body size and cardiac workload may be separated from its inappropriate component, namel...

Objective: Increased femoral intima-media thickness (IMT) is considered a surrogate marker of cardiovascular disease and a prognostic factor of future cardiovascular events. Our aim was to assess the heritability of IMT of the common and superficial femoral arteries (CFA, SFA). Design and method: 161 Hungarian and Italian twin pairs from Padua, Per...

For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m 2 ) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address thi...

To determine the reasons for large standard deviation of bronchodilator response (BDR) and establish whether there is a potential heritable component in healthy subjects. 67 monozygotic and 42 dizygotic adult twin pairs were assessed for bronchodilator response (% change in FEV1 after inhaling 400 µg salbutamol). Univariate quantitative genetic mod...

Despite the increasing interest in twin studies and the stunning amount of research on face recognition, the ability of adult identical twins to discriminate their own faces from those of their co-twins has been scarcely investigated. One's own face is the most distinctive feature of the bodily self, and people typically show a clear advantage in r...

Background Most twin studies of multiple sclerosis (MS) are inconclusive regarding the impact of genes and environment on disease susceptibility. In particular, high uncertainty exists about whether shared environmental factors are aetiologically relevant. Objective To disentangle, with a reasonable degree of confidence, the relative contributions...

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. A...

Cerebrovascular resistance is a pressure-dependent mechanism resulting from cerebral autoregulation, which is the normal buffering of changes in arterial blood pressure. Lifestyle habits are known to have an influence; however, its magnitude is still unclear. The aim of this study was to assess the contribution of additive genetic, shared and unsha...

We investigated age and gender effects on “Positive Orientation” (POS)—an individual's tendency to view life with a positive outlook—using a genetically informed design. Study subjects were 1016 twins aged 22–75 from the Italian twin registry. We assessed POS by the recently developed P-scale. First, we used confirmatory factor analysis to investig...

In differentiated cells, aging is associated with hypermethylation of DNA regions enriched in repressive histone posttranslational 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 obtained fr...

In differentiated cells, aging is associated with hypermethylation of DNA regions enriched in repressive histone posttranslational 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 obtained fr...

Most ethical and social research is focused on disease-oriented biobanks, while healthy donors' motivation toward population biobanking is scarcely explored. We investigated willingness to donate biological samples for research and attitudes toward donation by a mail survey among 4,894 twins enrolled in the population-based Italian Twin Register. W...

Mitochondrial components, including mitochondrial DNA (mtDNA), when released extracellularly, can act as "damage-associated molecular pattern" (DAMP) agents and cause inflammation. As many elderly people are characterized by a low-grade, chronic inflammatory status defined "inflamm-aging", we evaluated if circulating mtDNA can contribute to this ph...

Objective: Multiple twin studies have demonstrated the heritability of anthropometric and metabolic traits. However, assessment of body composition parameters by bioimpedance analysis (BIA) has not been routinely performed in this setting. Design: A cross-sectional study. Setting: Study subjects were recruited and assessed at twin festivals or...