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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 Externalizing symptoms were evaluated in 803 twin pairs from the population-based Italian Twin Registry. Model-fitting analysis was performed separately in the 6-14 and 15-18 age groups to estimate genetic and environmental contributions to the covariance among symptoms. For the 6-14 group, a multivariate Cholesky model best fitted the data, while, for the 15-18 group, the best fit was provided by a Common Pathway model in which nearly 50% of total variance of each trait was mediated by common genetic factors. Our findings support a common susceptibility behind Internalizing and Externalizing symptoms, mainly genetic in origin, that becomes more evident at the beginning of puberty.
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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.
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Dolor Crónico , Masculino , Femenino , Humanos , Dolor Crónico/genética , Modelos Genéticos , Fenotipo , Sistema de Registros , Dimensión del Dolor , Gemelos Monocigóticos/genética , Gemelos Dicigóticos/genética , Predisposición Genética a la EnfermedadRESUMEN
Comparing twins from same- and opposite-sex pairs can provide information on potential sex differences in a variety of outcomes, including socioeconomic-related outcomes such as educational attainment. It has been suggested that this design can be applied to examine the putative role of intrauterine exposure to testosterone for educational attainment, but the evidence is still disputed. Thus, we established an international database of twin data from 11 countries with 88,290 individual dizygotic twins born over 100 years and tested for differences between twins from same- and opposite-sex dizygotic pairs in educational attainment. Effect sizes with 95% confidence intervals (CI) were estimated by linear regression models after adjusting for birth year and twin study cohort. In contrast to the hypothesis, no difference was found in women (ß = -0.05 educational years, 95% CI -0.11, 0.02). However, men with a same-sex co-twin were slightly more educated than men having an opposite-sex co-twin (ß = 0.14 educational years, 95% CI 0.07, 0.21). No consistent differences in effect sizes were found between individual twin study cohorts representing Europe, the USA, and Australia or over the cohorts born during the 20th century, during which period the sex differences in education reversed favoring women in the latest birth cohorts. Further, no interaction was found with maternal or paternal education. Our results contradict the hypothesis that there would be differences in the intrauterine testosterone levels between same-sex and opposite-sex female twins affecting education. Our findings in men may point to social dynamics within same-sex twin pairs that may benefit men in their educational careers.
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Testosterona , Gemelos Dicigóticos , Estudios de Cohortes , Escolaridad , Femenino , Humanos , Masculino , Caracteres SexualesRESUMEN
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 adverse respiratory health outcomes. This study evaluates associations between surrounding residential land cover (green, grey, agricultural and blue space), including type of forest cover (deciduous, coniferous and mixed), and childhood allergic and respiratory diseases. METHODS: Data from 8063 children, aged 3-14 years, were obtained from nine European population-based studies participating in the HEALS project. Land-cover exposures within a 500 m buffer centred on each child's residential address were computed using data from the Coordination of Information on the Environment (CORINE) program. The associations of allergic and respiratory symptoms (wheeze, asthma, allergic rhinitis and eczema) with land coverage were estimated for each study using logistic regression models, adjusted for sex, age, body mass index, maternal education, parental smoking, and parental history of allergy. Finally, the pooled effects across studies were estimated using meta-analyses. RESULTS: In the pooled analyses, a 10% increase in green space coverage was significantly associated with a 5.9%-13.0% increase in the odds of wheezing, asthma, and allergic rhinitis, but not eczema. A trend of an inverse relationship between agricultural space and respiratory symptoms was observed, but did not reach statistical significance. In secondary analyses, children living in areas with surrounding coniferous forests had significantly greater odds of reporting wheezing, asthma and allergic rhinitis. CONCLUSION: Our results provide further evidence that exposure to green space is associated with increased respiratory disease in children. Additionally, our findings suggest that coniferous forests might be associated with wheezing, asthma and allergic rhinitis. Additional studies evaluating both the type of green space and its use in relation to respiratory conditions should be conducted in order to clarify the underlying mechanisms behind associated adverse impacts.
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Asma , Eccema , Ambiente , Características de la Residencia , Enfermedades Respiratorias , Rinitis Alérgica , Adolescente , Asma/epidemiología , Niño , Preescolar , Eccema/epidemiología , Humanos , Prevalencia , Ruidos Respiratorios , Enfermedades Respiratorias/epidemiología , Rinitis Alérgica/epidemiologíaRESUMEN
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 focused on specific stressors for a constrained period of time. In response, the concept of the exposome has been raised, which is defined as the totality of exposure experienced from conception until death. The EU FP7-ENVIRONMENT research project HEALS was launched with the aim of incorporating a series of novel technologies, data analysis, and modelling tools to efficiently support exposome studies in Europe. The authors have developed a framework of modelling tools for estimating the long-term external exposure of selected population groups to multiple stressors through different pathways. As the starting point, the stressors, including electromagnetic fields (EMF) and ultraviolet light (UV) through dermal uptake, phthalates (DEHP, DIDP, and DINP) through inhalation, as well as chromium, mercury, and lead through food intake, have been selected. The simulation for multiple stressors has been realised by developing a probabilistic model that integrates the micro-environment approach, time-activity patterns, and a life course trajectory model. The methodology has been applied to a selected sample of subjects enrolled in the Italian Twin Registry (ITR). The results show that long-term exposures to multiple stressors are affected by factors including age, gender, geographical location, and education level. The methods developed in this paper extended the temporal and spatial scales of exposure modelling in Europe. Moreover, the application of our methods provided a novel approach and crucial input data for future work on environment-wide association studies.
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Exposición a Riesgos Ambientales , Campos Electromagnéticos , Europa (Continente) , Humanos , Estrés FisiológicoRESUMEN
Numerous epidemiological studies have confirmed the negative influences of air pollutants on human health, where fine particles (PM2.5) and nitrogen dioxide (NO2) cause the highest health risks. However, the traditional studies have only involved the ambient concentration for a short to medium time period, which ignores the influence of indoor sources, the individual time-activity pattern, and the fact that the health status is impacted by the long-term accumulated exposure. The aim of this paper is to develop a methodology to simulate the lifelong exposure (rather than outdoor concentration) to PM2.5 and NO2 for individuals in Europe. This method is realized by developing a probabilistic model that integrates an outdoor air quality model, a model estimating indoor air pollution, an exposure model, and a life course trajectory model for predicting retrospectively the employment status. This approach has been applied to samples of two population studies in the frame of the European Commission FP7-ENVIRONMENT research project HEALS (Health and Environment-wide Associations based on Large Population Surveys), where socioeconomic data of the participants have been collected. Results show that the simulated exposures to both pollutants for the samples are influenced by socio-demographic characteristics, including age, gender, residential location, employment status and smoking habits. Both outdoor concentrations and indoor sources play an important role in the total exposure. Moreover, large variances have been observed among countries and cities. The application of this methodology provides valuable insights for the exposure modelling, as well as important input data for exploring the correlation between exposure and health impacts.
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Contaminantes Atmosféricos/análisis , Contaminación del Aire/estadística & datos numéricos , Exposición a Riesgos Ambientales/estadística & datos numéricos , Contaminación del Aire Interior/estadística & datos numéricos , Europa (Continente) , Humanos , Dióxido de Nitrógeno/análisis , Material Particulado/análisis , Estudios RetrospectivosRESUMEN
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 belonging to a wide age range (from 0 to 95 years, mean 36.8 years). This article provides an overview of the recruitment strategies along with the major phenotypes investigated during an 18 years' research period. Over the years, several self-reported questionnaire data were collected, together with saliva/blood samples and measurements taken during in-person interviews or outpatient clinical examinations. Mental and behavioral phenotypes as well as atherosclerotic traits were studied in depth across different age groups. A birth cohort of twins was established and followed up. Novel research hypotheses are also being tested in ongoing projects. The ITR is involved in international studies in collaboration with other twin registries and represents a valuable resource for national and international research initiatives regarding a broad spectrum of health-related characteristics.
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Enfermedades en Gemelos/epidemiología , Calidad de Vida , Sistema de Registros/estadística & datos numéricos , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Enfermedades en Gemelos/genética , Enfermedades en Gemelos/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Italia/epidemiología , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Encuestas y Cuestionarios , Adulto JovenRESUMEN
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.
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Envejecimiento/genética , Metilación de ADN , ADN/genética , Células Madre/citología , Adolescente , Anciano , Anciano de 80 o más Años , Diferenciación Celular , Células Cultivadas , Niño , Preescolar , Cromatina/genética , Epigénesis Genética , Histonas/genética , Humanos , Análisis por Micromatrices , Persona de Mediana Edad , Regiones Promotoras Genéticas , Procesamiento Proteico-Postraduccional , Análisis de Secuencia de ADN , Gemelos Monocigóticos , Adulto JovenRESUMEN
Carotid atherosclerosis (CAS) is associated with increased cardiovascular risk, and therefore, assessing the genetic versus environmental background of CAS traits is of key importance. Carotid intima-media-thickness and plaque characteristics seem to be moderately heritable, with remarkable differences in both heritability and presence or severity of these traits among ethnicities. Although the considerable role of additive genetic effects is obvious, based on the results so far, there is an important emphasis on non-shared environmental factors as well. We aimed to collect and summarize the papers that investigate twin and family studies assessing the phenotypic variance attributable to genetic associations with CAS. Genes in relation to CAS markers were overviewed with a focus on genetic association studies and genome-wide association studies. Although the role of certain genes is confirmed by studies conducted on large populations and meta-analyses, many of them show conflicting results. A great focus should be on future studies elucidating the exact pathomechanism of these genes in CAS in order to imply them as novel therapeutic targets.
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Arterias Carótidas/fisiopatología , Enfermedades de las Arterias Carótidas/genética , Predisposición Genética a la Enfermedad , Estudios en Gemelos como Asunto , Enfermedades de las Arterias Carótidas/fisiopatología , Grosor Intima-Media Carotídeo , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Polimorfismo de Nucleótido Simple , Factores de RiesgoRESUMEN
BACKGROUND: Anatomic variants of the circle of Willis (CW) are commonly observed in healthy subjects. Genetic and environmental factors influencing these variants remain unclear. Our aim was to assess the genetic and environmental background affecting variant CW phenotypes. METHODS: A total of 122 adult healthy twins from the Hungarian Twin Registry (39 monozygotic (MZ) and 22 dizygotic (DZ) pairs, average age 49.7 ± 13.4 years) underwent Time-of-Flight magnetic resonance angiography and transcranial Doppler sonography. We investigated the anterior and posterior CW according to morphological categories. Prevalence and concordance rates of CW variants were calculated. MZ twins discordant for CW variants were analyzed for cardiovascular risk factors and altered blood flow. RESULTS: Complete CW (45.0%) and bilaterally absent posterior communicating artery (PCoA) (22.5%) were the most prevalent variants in the anterior and posterior CW, respectively. There was no significant difference regarding the prevalence of variants across zygosity except for bilaterally hypoplastic PCoA (p = .02). DZ concordance was higher compared to MZ twins regarding morphological categories of the CW. Cardiovascular risk factors were not significantly associated with variant CW in MZ twins discordant to CW morphology. Flow parameters did not differ significantly among MZ twins discordant to CW variants. CONCLUSION: CW variants may not be determined by substantial genetic effects and are not influenced by altered blood flow in healthy individuals. Further investigations are needed to identify potential environmental factors affecting these variants.
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Círculo Arterial Cerebral/anatomía & histología , Enfermedades en Gemelos/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Anciano , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/fisiopatología , Círculo Arterial Cerebral/diagnóstico por imagen , Círculo Arterial Cerebral/fisiología , Femenino , Interacción Gen-Ambiente , Humanos , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Flujo Sanguíneo Regional/genética , Factores de Riesgo , Estudios en Gemelos como AsuntoRESUMEN
INTRODUCTION: Italy is still characterized by a mild iodine deficiency and is among the most intensive users of chemical products for agriculture in Europe. The aim of this study was i) to evaluate thyroid effects of exposure to mancozeb, a fungicide widely used in agriculture, in a sample of Italian grapevine workers, and ii) to verify whether the iodine intake may modulate the risk of thyroid disruption due to the mancozeb metabolite ethylenthiourea (ETU). METHODS: One hundred seventy-seven occupationally exposed male workers (29 from Chianti, a mild iodine deficient area, and 148 from Bolzano an iodine sufficient province) and 74 non-occupationally exposed male controls (34 from Chianti and 40 from Bolzano) were enrolled in the study. Serum biomarkers of thyroid function, as well as urinary iodine and ETU concentrations were assessed. Moreover all the recruited subjects underwent clinical examination and thyroid ultrasound. RESULTS: Multivariate comparisons showed lower mean serum levels of FT4 in Chianti-workers as compared to Bolzano-workers. Moreover, an increased urinary iodine excretion (>250µg/L) was more frequently found among more exposed workers (ETU>20µg/L) than among less exposed ones and this effect was more pronounced in Chianti- than in Bolzano-workers. Chianti-workers also showed a significantly higher frequency of very low thyroid volume (≤6.0ml) as compared to controls. CONCLUSIONS: These findings showed a mild thyroid disrupting effect due to occupational exposure to mancozeb, more pronounced in workers residing in an area characterized by a mild to moderate iodine deficiency as compared to workers residing in an area covered by a long-lasting iodine prophylaxis program.
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Fungicidas Industriales/toxicidad , Yodo/administración & dosificación , Maneb/toxicidad , Enfermedades de la Tiroides/prevención & control , Zineb/toxicidad , Adulto , Anciano , Enfermedades de los Trabajadores Agrícolas/inducido químicamente , Enfermedades de los Trabajadores Agrícolas/prevención & control , Estudios de Casos y Controles , Etilenotiourea/análisis , Agricultores , Humanos , Yodo/deficiencia , Italia , Masculino , Persona de Mediana Edad , Estado Nutricional , Exposición Profesional/efectos adversos , Enfermedades de la Tiroides/inducido químicamente , Pruebas de Función de la TiroidesRESUMEN
Low doses of drugs delivered at close, regular intervals are increasingly being used to manage patients with different neoplasms. Despite the good tolerability, treatment-related adverse events still occur following metronomic protocols. The aim of this study was to retrospectively investigate whether polymorphisms of different genes involved in fluoropyrimidine metabolism and 5-fluorouracil (5-FU) degradation rate were associated with the outcome of a low-dose capecitabine schedule. Genotyping of DPYD IVS14+1 G>A, MTHFR C677T, and A1298C single-nucleotide polymorphisms was performed by pyrosequencing technology. A PCR technique was used for genotyping TYMS-TSER. Using peripheral blood mononuclear cells, we also evaluated the 5-FU degradation rate, which determines the net result of all the enzymatic transformation of 5-FU, in terms of the amount of drug consumed by the cells in a time unit. The association of these variables with clinical outcome was evaluated using multivariate logistic regression analysis. Eighty-four patients with metastatic gastrointestinal cancer, who had been treated with a low-dose fluoropyrimidine schedule, as a rescue therapy were included in the study. The TSER 2R/2R genotype was significantly associated with both hematologic (odds ratio=7.90, P=0.002) and gastrointestinal toxicity (odds ratio=3.24, P=0.009). Because DPYD IVS14 G>A single-nucleotide polymorphism was not observed in the cohort, it was excluded from the statistical analysis. No significant association was detected between clinical outcome and both MTHFR polymorphisms and the 5-FU degradation rate. In the advanced setting of cancer care, high attention should be paid toward avoiding toxicity and worsening of quality of life. Although metronomic chemotherapy is generally well tolerated, treatment toxicity nonetheless does occur. Our data suggest a possible role of the TSER 2R/2R polymorphism as a predictive marker of toxicity in patients treated with low-dose capecitabine.
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Capecitabina/administración & dosificación , Elementos de Facilitación Genéticos , Neoplasias Gastrointestinales/tratamiento farmacológico , Neoplasias Gastrointestinales/genética , Timidilato Sintasa/genética , Relación Dosis-Respuesta a Droga , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Estudios RetrospectivosRESUMEN
The detoxifying enzyme glutathione-s-transferase pi (GST-π) is present in keratinocytes and melanocytes and exerts a protective role against tumour progression. Melanomas close to melanocytic naevus remnants occur less frequently on sun-exposed areas, whereas solar dermal elastosis, hallmark of chronic sun-damage, characterise melanomas on sun-exposed skin. We evaluated the expression of GST-π in 113 melanomas associated to melanocytic naevus remnants or to solar dermal elastosis, classified according to clinical characteristics, history of sun exposure, histological subtypes and AJCC staging. Chronically sun-damaged melanomas, identified by moderate-severe solar dermal elastosis, showed a lower nuclear GST-π expression and a higher thickness than those related to melanocytic naevus remnants (p < 0.03). Multivariate logistic regression analysis demonstrated that male gender and chronic sun-exposure are independent risk factors significantly associated to melanomas localised on the trunk (OR = 3.36, 95% CI: 1.31-8.65; OR = 5.97, 95% CI: 1.71-20.87). If confirmed on a larger series, lower expression of nuclear GST-π in melanoma cells could represent a possible marker of chronically sun-damaged melanoma pathogenesis.
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Biomarcadores de Tumor/análisis , Gutatión-S-Transferasa pi/análisis , Melanoma/enzimología , Melanoma/epidemiología , Neoplasias Inducidas por Radiación/enzimología , Neoplasias Inducidas por Radiación/epidemiología , Nevo Pigmentado/enzimología , Nevo Pigmentado/epidemiología , Luz Solar/efectos adversos , Adulto , Anciano , Biopsia , Distribución de Chi-Cuadrado , Regulación hacia Abajo , Femenino , Regulación Enzimológica de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Humanos , Inmunohistoquímica , Italia/epidemiología , Modelos Logísticos , Masculino , Melanoma/patología , Persona de Mediana Edad , Análisis Multivariante , Estadificación de Neoplasias , Neoplasias Inducidas por Radiación/patología , Nevo Pigmentado/patología , Oportunidad Relativa , Factores de Riesgo , Factores Sexuales , Factores de TiempoRESUMEN
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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Trastorno Autístico/epidemiología , Trastorno Autístico/psicología , Temperamento , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Individualidad , Italia/epidemiología , Masculino , Persona de Mediana Edad , Personalidad , Escalas de Valoración Psiquiátrica , Medio Social , GemelosRESUMEN
AIM: To determine the reasons for large standard deviation of bronchodilator response (BDR) and establish whether there is a potential heritable component in healthy subjects. METHODS: 67 monozygotic and 42 dizygotic adult twin pairs were assessed for bronchodilator response (% change in FEV1 after inhaling 400 µg salbutamol). Univariate quantitative genetic modeling was performed. RESULTS: Multiple regression modeling showed a significant association between BDR and sex and baseline FEV1 (P<0.05), while no association was found with smoking habits, body mass index, or age. Within pair correlation in monozygotic twins was modest (0.332), but higher than in dizygotic twins (0.258). Age-, sex-, and baseline FEV1-adjusted genetic effect accounted for 14.9% (95% confidence interval, CI 0%-53.1%) of the variance of BDR, shared environmental effect for 18.4% (95% CI 0%-46.8%), and unshared environmental effect for 66.8% (95% CI 46.8%-88.7%). CONCLUSION: Our twin study showed that individual differences in BDR can be mostly explained by unshared environmental effects. In addition, it is the first study to show low, insignificant hereditary influences, independently from sex, age, and baseline FEV1.
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Albuterol/administración & dosificación , Broncodilatadores/administración & dosificación , Volumen Espiratorio Forzado/genética , Interacción Gen-Ambiente , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Índice de Masa Corporal , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
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 for the search of the scientific literature and the exclusion criteria are reported. Then, the analysis of the studies included in this review is performed, with a brief description of targeted outcomes, twin model used, sample characteristics and findings. Finally, key messages emerging from the review are highlighted, emphasizing their value for bridging the current gaps in the understanding of determinants of eating behaviour and their mode of action.
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Ingestión de Alimentos/genética , Conducta Alimentaria , Trastornos de Alimentación y de la Ingestión de Alimentos/genética , Preferencias Alimentarias , Anorexia/genética , Bulimia/genética , Ingestión de Alimentos/psicología , Conducta Alimentaria/psicología , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología , Preferencias Alimentarias/psicología , Ligamiento Genético , Humanos , Italia/epidemiología , Medio Social , Estudios en Gemelos como AsuntoRESUMEN
BACKGROUND: While heritability has been shown for daytime sleepiness, the heritability of daytime capillary oxygen saturation (SpO(2)) has not been described in detail. Our aim was to estimate the role of genes and environmental factors--both shared and unshared--in the variation of daytime SpO(2). METHODS: A total of 193 adult healthy twin pairs (138 monozygotic, 55 dizygotic) were recruited in Hungary and in the United States [age = 43.6 ± 15.6 years (mean ± SD)]. SpO(2) was measured by pulse oximetry. Univariate quantitative genetic modeling was performed to decompose the phenotypic variance of the considered parameter into heritability (A), shared (C), and unshared (E) environmental effects. RESULTS: SpO(2) twin correlation in monozygotic twins was stronger than in dizygotic twins (0.30 and -0.15, respectively, p < 0.05). Age-, sex-, country-, and body mass index-adjusted genetic effects accounted for 26 % (95 % CI 10, 45 %) of the variance of SpO(2), and the unshared environmental component explained the remaining 74 % (95 % CI 59, 89 %). No shared environmental influence on SpO(2) was detected. The heritability of SpO(2) was not different between smokers and nonsmokers. CONCLUSION: In summary, individual differences in daytime SpO(2) are explained by genetic and unshared environmental effects. The strong unshared environmental influence highlights the role of prevention of known environmental risk factors.
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Ritmo Circadiano/genética , Oxígeno/sangre , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Biomarcadores/sangre , Femenino , Interacción Gen-Ambiente , Genotipo , Herencia , Humanos , Hungría , Masculino , Persona de Mediana Edad , Oximetría , Fenotipo , Sistema de Registros , Factores de Riesgo , Factores de Tiempo , Estados UnidosRESUMEN
BACKGROUND: The fetal and infant life are periods of rapid development, characterized by high susceptibility to exposures. Birth cohorts provide unique opportunities to study early-life exposures in association with child development and health, as well as, with longer follow-up, the early life origin of adult diseases. Piccolipiù is an Italian birth cohort recently set up to investigate the effects of environmental exposures, parental conditions and social factors acting during pre-natal and early post-natal life on infant and child health and development. We describe here its main characteristics. METHODS/DESIGN: Piccolipiù is a prospective cohort of expected 3000 newborns, who will be recruiting in six maternity units of five Italian cities (Florence, Rome, Trieste, Turin and Viareggio) since October 2011. Mothers are contacted during pregnancy or at delivery and are offered to participate in the study. Upon acceptance, their newborns are recruited at birth and followed up until at least 18 years of age. At recruitment, the mothers donate a blood sample and complete a baseline questionnaire. Umbilical cord blood, pieces of umbilical cord and heel blood spots are also collected. Postnatal follow-up currently occurs at 6, 12, and 24 months of age using on-line or postal self administered questionnaire; further questionnaires and medical examinations are envisaged. Questionnaires collect information on several factors, including mother's and/or child's environmental exposures, anthropometric measures, reproductive factors, diet, supplements, medical history, cognitive development, mental health and socioeconomic factors. Health promotion materials are also offered to parents. DISCUSSION: Piccolipiù will broaden our understanding of the contribution of early-life factors to infant and child health and development. Several hypotheses on the developmental origins of health can be tested or piloted using the data collected from the Piccolipiù cohort. By pooling these data with those collected by other existing birth cohorts it will be possible to validate previous findings and to study rare exposures and outcomes.
Asunto(s)
Desarrollo Infantil , Protección a la Infancia , Adolescente , Niño , Preescolar , Estudios de Cohortes , Exposición a Riesgos Ambientales , Humanos , Lactante , Recién Nacido , Italia , Estudios Prospectivos , Factores SocioeconómicosRESUMEN
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 investigate scale's measurement invariance by age and gender. Then, we applied biometric modelling to estimate genetic and environmental components of POS score. Overall, we found a satisfactory degree of measurement invariance by both age and gender. Results from these analyses further indicated an increasing mean level of POS across the lifespan. Additive genetic and unshared environmental factors explained respectively 58% and 42% of variance in POS score, with no significant gender differences; furthermore, the pattern of change of gene-environment architecture of POS over time was consistent with a greater plasticity of personality at older ages.