RESUMEN
Between 2006 and 2021, the Hungarian Twin Registry (HTR) operated a volunteer twin registry of all age groups (50% monozygotic [MZ], 50% dizygotic [DZ], 70% female, average age 34 ± 22 years), including 1044 twin pairs, 24 triplets and one quadruplet set. In 2021, the HTR transformed from a volunteer registry into a population-based one, and it was established in the Medical Imaging Centre of Semmelweis University in Budapest. Semmelweis University's innovation fund supported the development of information technology, a phone bank and voicemail infrastructure, administrative materials, and a new website was established where twins and their relatives (parent, foster parent or caregiver) can register. The HTR's biobank was also established: 157,751 individuals with a likely twin-sibling living in Hungary (77,042 twins, 1194 triplets, 20 quadruplets, and one quintuplet) were contacted between February and March of 2021 via sealed letters. Until November 20, 2022, 12,001 twin individuals and their parents or guardians (6724 adult twins, 3009 parents/guardians and 5277 minor twins) registered, mostly online. Based on simple self-reports, 37.6% of the registered adults were MZ twins and 56.8% were DZ; 1.12% were triplets and 4.5% were unidentified. Of the registered children, 22.3% were MZ, 72.7% were DZ, 1.93% were triplets, and 3.05% were unidentified. Of the registered twins, 59.9% were female (including both the adult and minor twins). The registration questionnaire consists of eight parts, including socio-demographic and anthropometric data, smoking habits and medical questions (diseases, operations, therapies). Hungary's twin registry has become the sole and largest population-based twin registry in Central Eastern Europe. This new resource will facilitate performing world-class modern genetic research.
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Sistema de Registros , Gemelos Dicigóticos , Gemelos Monocigóticos , Humanos , Sistema de Registros/estadística & datos numéricos , Hungría/epidemiología , Femenino , Masculino , Adulto , Gemelos Dicigóticos/genética , Gemelos Dicigóticos/estadística & datos numéricos , Gemelos Monocigóticos/genética , Gemelos Monocigóticos/estadística & datos numéricos , Niño , Persona de Mediana Edad , Adolescente , Preescolar , Anciano , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Adulto Joven , LactanteRESUMEN
Our study analyzed lymphocyte subpopulations of 32 monozygotic twins and compared the level of the catalytic reverse transcriptase protein subunit (hTERT) in T lymphocytes (Tly), helper- (Th), cytotoxic- (Tc) and regulatory T cell (Treg) subgroups. Four variables related to telomere and mitochondrial biology were simultaneously assessed, applying multi-parametric flow cytometry, TRAP-ELISA assay and qPCR standard curve method on peripheral blood mononuclear cell (PBMC) samples of genetically matched individuals. Twin data of telomerase activity (TA), hTERT protein level, telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) were analyzed for co-twin similarity. The present study has provided novel information by demonstrating very high intraclass correlation (ICC) of hTERT protein level in T lymphocytes (0.891) and in both Th (0.896), Treg (0.885) and Tc (0.798) cell subgroups. When comparing results measured from PBMCs, intraclass correlation was also high for telomere length (0.815) and considerable for mtDNA copy number (0.524), and again exceptionally high for the rate-limiting telomerase subunit, hTERT protein level (0.946). In contrast, telomerase activity showed no co-twin similarity (ICC 0). By comparing relative amounts of hTERT protein levels in different lymphocyte subgroups of twin subjects, in Treg cells significantly higher level could be detected compared to Tly, Th or Tc cell subgroups. This is the first study that simultaneously analyzed co-twin similarity in MZ twins for the above four variables and alongside assessed their relationship, whereby positive association was found between TL and mtDNAcn.
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ADN Mitocondrial/genética , Subgrupos de Linfocitos T/metabolismo , Telomerasa/genética , Telómero/genética , Gemelos Monocigóticos , Adulto , Anciano , Animales , Células Cultivadas , ADN Mitocondrial/metabolismo , Femenino , Dosificación de Gen , Humanos , Leucocitos Mononucleares/metabolismo , Masculino , Persona de Mediana Edad , Telomerasa/metabolismo , Telómero/metabolismo , Homeostasis del Telómero , Adulto JovenRESUMEN
Since our last report on the voluntary Hungarian Twin Registry (HTR) in 2012, the number of pairs or multiplets included increased from 310 to 1044. Efforts to turn the registry into a population-based one are on the way. Nearly 128,000 twins living in Hungary (98,500 adults) will be mailed information on how to register on the new HTR website. Twins will be asked to invite their spouses and immediate family members. Meanwhile, strong cooperation through exchange programs has been developed with other foreign twin registries. Current research focuses on radiogenomics, musculoskeletal, cardiovascular and respiratory diseases, gut microbiome as well as basic molecular research and yielded new awards and further publications.
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Recolección de Datos/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricos , Proyectos de Investigación/normas , Gemelos/genética , Manejo de Datos , Humanos , Hungría/epidemiología , Estudios Longitudinales , Encuestas y CuestionariosRESUMEN
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
Doppler interrogation studies of the liver blood flow indicate altered hepatic vein waveforms in association with impaired hepatocellular function. However, little is known about the mechanisms responsible for variations of these parameters in the absence of disease. We aimed to investigate the contribution of heritable and environmental factors to the physiological variability of hepatic vein flow in a twin cohort. Two hundred twenty-eight healthy adult Hungarian twins (69 monozygotic, 45 same-sex dizygotic pairs) underwent Doppler sonography of the hepatic vein. Age- and sex-adjusted heritability of the highest velocity (amplitude of S wave) of hepatic vein flow was negligible. Shared environment contributed to 33% (95% CI, 16%-51%), and unshared environment was responsible for the largest portion (67%; 95% CI, 49%-84%) of the variance. Duration of sports activities was significantly (P < 0.05) related to the magnitude of hepatic vein flow, while other risk factors and lifestyle characteristics had no significant influence. The data suggest that genetic factors have little impact on the parameters of hepatic venous blood flow. The variability observed in healthy twins by the Doppler interrogation can be explained by the effect of unshared environmental components primarily related to regular physical activity. These findings underscore the importance of unique environments in physiological variations of hepatic venous blood flow.
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Venas Hepáticas/fisiología , Adulto , Ambiente , Ejercicio Físico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Flujo Sanguíneo Regional , Gemelos Dicigóticos , Gemelos MonocigóticosRESUMEN
Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60% of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly uses the phrase "Left-Right". We then present results from one of the first genome-wide association studies on political ideology using data from three samples: a 1990 Australian sample involving 6,894 individuals from 3,516 families; a 2008 Australian sample of 1,160 related individuals from 635 families and a 2010 Swedish sample involving 3,334 individuals from 2,607 families. No polymorphisms reached genome-wide significance in the meta-analysis. The combined evidence suggests that political ideology constitutes a fundamental aspect of one's genetically informed psychological disposition, but as Fisher proposed long ago, genetic influences on complex traits will be composed of thousands of markers of very small effects and it will require extremely large samples to have enough power in order to identify specific polymorphisms related to complex social traits.
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Personalidad/genética , Política , Estudio de Asociación del Genoma Completo , HumanosRESUMEN
OBJECTIVE: Altered venous biomechanics may contribute to the pathogenesis of venous diseases, and their heritability is less known. METHODS AND RESULTS: Seventy-eight monozygotic twin pairs (aged 42.4 ± 16.8 years) and 24 same-sex dizygotic twin pairs (aged 50.5 ± 16.1 years) were examined. Anteroposterior and mediolateral diameters of the common femoral vein were measured by ultrasonography. Measurements were made both in supine and in standing body positions, with or without controlled forced expiration (Valsalva test). High correlation of diameter, capacity, and distensibility values was found between twin pairs. The univariate heritability (A), shared (C), and unshared (E) environmental effects model has shown 39.3% genetic component of the variance of low pressure, 37.9% of high-pressure venous capacity, and 36.4% of maximal capacity changes, even after elimination of sex, age, and body weight effects. Bivariate Cholesky analysis revealed substantial covariance of inherited body weight and venous capacity components (57.0%-81.4%). CONCLUSIONS: Femoral vein capacity and elasticity depend ≈30% to 40% on genetic factors, and this value in the standing body position can reach 50%. A relatively high genetic covariance was found between weight and femoral vein capacity and elasticity. Our work might yield some new insights into the inheritance of venous diseases that are associated with altered venous biomechanics and help elucidate the involved genes.
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Enfermedades en Gemelos/genética , Vena Femoral/fisiopatología , Hemodinámica/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Enfermedades Vasculares/genética , Adulto , Anciano , Fenómenos Biomecánicos , Enfermedades en Gemelos/diagnóstico , Enfermedades en Gemelos/fisiopatología , Elasticidad , Ambiente , Femenino , Vena Femoral/diagnóstico por imagen , Predisposición Genética a la Enfermedad , Herencia , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Medición de Riesgo , Factores de Riesgo , Posición Supina , Ultrasonografía , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/fisiopatología , Rigidez Vascular/genética , Presión Venosa/genéticaRESUMEN
BACKGROUND: Few, and inconsistent, studies have showed high heritability of some parameters of the anterior segment of the eye; however, no heritability of anterior chamber volume (ACV) has been reported, and no study has been performed to investigate the correlation between the ACV and central corneal thickness (CCT). METHODS: Anterior segment measurements (Pentacam, Oculus) were obtained from 220 eyes of 110 adult Hungarian twins (41 monozygotic and 14 same-sex dizygotic pairs; 80% women; age 48.6 ± 15.5 years) obtained from the Hungarian Twin Registry. RESULTS: Age- and sex-adjusted heritability of ACV was 85% (bootstrapped 95% confidence interval; CI: 69% to 93%), and 88% for CCT (CI: 79% to 95%). Common environmental effects had no influence, and unshared environmental factors were responsible for 12% and 15% of the variance, respectively. The correlation between ACV and CCT was negative and significant (r ph = -0.35, p < .05), and genetic factors accounted for the covariance significantly (0.934; CI: 0.418, 1.061) based on the bivariate Cholesky decomposition model. CONCLUSION: These findings support the high heritability of ACV and central corneal thickness, and a strong genetic covariance between them, which underscores the importance of identification of the specific genetic factors and the family risk-based screening of disorders related to these variables, such as open-angle and also angle closure glaucoma and corneal endothelial alterations.
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Cámara Anterior/patología , Córnea/patología , Glaucoma de Ángulo Cerrado , Glaucoma de Ángulo Abierto , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Adulto , Femenino , Glaucoma de Ángulo Cerrado/genética , Glaucoma de Ángulo Cerrado/patología , Glaucoma de Ángulo Abierto/genética , Glaucoma de Ángulo Abierto/patología , Humanos , Hungría , Masculino , Persona de Mediana Edad , Tamaño de los Órganos/genéticaRESUMEN
The first Hungarian Twin Registry was established in Budapest in 1970 through the mandatory reporting of multiple-births. In the 1980s a second, volunteer adult registry was also founded. Unfortunately, both registries ceased to exist in the 1990s. Efforts started in 2006 to revive a Hungarian twin registry. The team spearheading this effort reports here on this progress. Currently, the voluntary Hungarian Twin Registry consists of 310 adult twin pairs and multiplets. Current research focuses on cardiovascular and respiratory health and yielded multiple awards and publications. Efforts are on the way to expand into social, psychological, and obesity studies.
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Enfermedades en Gemelos/genética , Sistema de Registros , Gemelos/genética , Adulto , Estudios de Cohortes , Enfermedades en Gemelos/epidemiología , Femenino , Humanos , Hungría/epidemiología , MasculinoRESUMEN
AIM: To estimate heritability and environmental effects on renal parenchymal thickness. METHODS: In this twin study, renal parenchymal thickness of 98 Hungarian healthy adult twin pairs (68 monozygotic, 30 dizygotic) without kidney disease was measured bilaterally using renal ultrasound with Esaote MyLab 70X ultrasound machine with low-frequency curved transducers (1-8 MHz). RESULTS: In both monozygotic and dizygotic group there were more women (76.5%). Mean right and left renal parenchymal thickness was 1.32±0.33 cm and 1.62±0.31 cm, respectively. Age- and sex-adjusted heritability of renal parenchymal thickness was 0.0% (95% confidence interval, 0.0 to 50.2%), shared and unshared environmental factor was 30.2% (4.1 to 55.9%) and 69.8% (45.8 to 89.5%), respectively. CONCLUSION: This study shows a negligible role of heritability and an important role of environmental effects in developing renal parenchymal thickness, emphasizing the importance of lifestyle for primary prevention.
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Interacción Gen-Ambiente , Variación Genética , Corteza Renal/patología , Enfermedades Renales/genética , Enfermedades Renales/patología , Estilo de Vida , Enfermedad Aguda , Adulto , Factores de Edad , Enfermedad Crónica , Femenino , Predisposición Genética a la Enfermedad , Humanos , Hungría , Corteza Renal/diagnóstico por imagen , Enfermedades Renales/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Prevención Primaria , Factores de Riesgo , Factores Sexuales , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , UltrasonografíaRESUMEN
Twin studies play a role in examining the contribution of genetic variations and environmental factors responsible for the determination of phenotypic variables and of genetic linkage between genotypes. Hungarian twin studies, supported by three twin registries (among them two twin-database), date back to 1970s. Studies mainly focused on various congenital abnormalities, the effect of contraceptive pills and folic acid on the frequency of twin pregnancies, as well as psychosexual and alcohol consumptional behaviors. Monogenic Mendelian inheritance of lactose (mal)absorption was demonstrated for the first time. Hungarian Twin Registry was founded in 2007, which contributed to the current understanding on the background of several disorders, e.g. metabolic syndrome and atherosclerosis. As part of an international twin study, among others, arterial stiffness, central blood pressure, carotid intima/media thickness, venous biomechanics, body composition, lung function and smoking characteristics were also assessed. Absence of genetic background in non-alcoholic fatty liver disease and high inheritance of carotid plaque characteristics were demonstrated for the first time. The review also aims to summarize future plans of the Hungarian Twin Registry.
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Enfermedades en Gemelos/etiología , Interacción Gen-Ambiente , Enfermedades Genéticas Congénitas/etiología , Sistema de Registros , Estudios en Gemelos como Asunto , Consumo de Bebidas Alcohólicas/genética , Composición Corporal/genética , Grosor Intima-Media Carotídeo , Anomalías Congénitas/etiología , Anomalías Congénitas/genética , Anticonceptivos Orales/administración & dosificación , Anticonceptivos Orales/efectos adversos , Enfermedades en Gemelos/genética , Hígado Graso/etiología , Femenino , Ácido Fólico/administración & dosificación , Ácido Fólico/efectos adversos , Enfermedades Genéticas Congénitas/genética , Humanos , Hungría , Intolerancia a la Lactosa/etiología , Análisis de la Aleatorización Mendeliana , Enfermedad del Hígado Graso no Alcohólico , Embarazo , Embarazo Gemelar/efectos de los fármacos , Desarrollo Psicosexual , Fumar/genética , Rigidez Vascular/genéticaRESUMEN
BACKGROUND AND PURPOSE: Few family studies reported moderate genetic impact on the presence and scores of carotid plaques. However, the heritability of carotid plaque characteristics remains still unclear. Twin studies more reliably estimate the relative contribution of genes to these traits in contrast to family study design. METHODS: One hundred ninety-two monozygotic and 83 dizygotic adult twin pairs (age 49±15 years) from Italy, Hungary, and the United States underwent B-mode and color Doppler ultrasound of bilateral common, internal, and external carotid arteries. RESULTS: Age-, sex-, and country-adjusted heritability was 78% for the presence of carotid plaque (95% CI, 55%-90%), 74% for plaque echogenicity (hypoechoic, hyperechoic, or mixed; 95% CI, 38%-87%), 69% for plaque size (area in mm2 in longitudinal plane;
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Estenosis Carotídea/diagnóstico por imagen , Estenosis Carotídea/genética , Ultrasonografía Doppler , Adulto , Ambiente , Femenino , Humanos , Hungría , Internacionalidad , Italia , Masculino , Persona de Mediana Edad , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Estados UnidosRESUMEN
BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) has been linked to increased cardiovascular morbidity. However, genetic factors have an unclear role in this condition. AIMS: To analyse heritability of NAFLD and its association with abnormal vascular parameters in a large twin cohort. METHODS: Anthropometric and lipid metabolic parameters were obtained from 208 adult Hungarian twins (63 monozygotic and 41 dizygotic pairs; 58 men and 150 women; age 43.7 ± 16.7 years). B-mode ultrasonography was performed to detect steatosis and categorize severity. Brachial and aortic augmentation indices and aortic pulse wave velocity were assessed using oscillometry (TensioMed Arteriograph). Carotid intima media thickness (IMT) was measured using ultrasonography on the proximal common, distal common and internal carotid arteries. RESULTS: NAFLD was identified in 47 subjects (22.6%), of which 44 (93.6%) had mild and 3 (6.4%) had moderate steatosis. These subjects were older (age: 50.9 ± 14.3 vs. 41.5 ± 16.7 years, P < 0.001) and had a higher body mass index (BMI; 30.1 ± 5.2 vs. 24.6 ± 4.1 km/m(2) , P < 0.001) than non-NAFLD twins. Based on 91 same-sex twin pairs, heritability analysis indicated no discernible role for genetic components in the presence of NAFLD (95% confidence interval, 0.0-36.0%), while shared and unshared environmental effects accounted for 74.2% and 25.8% of variations adjusted for age and BMI. Augmentation indices and carotid IMT in twins with NAFLD were increased at most examined locations (P < 0.05-P < 0.001). CONCLUSION: These findings do not support heritability of NAFLD, although it coexists with vascular parameters linked to increased cardiovascular risk, underscoring the importance and value of prevention in this very common disorder.
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Anomalías Cardiovasculares/epidemiología , Anomalías Cardiovasculares/genética , Hígado Graso/epidemiología , Hígado Graso/genética , Adulto , Anciano , Aorta/fisiología , Velocidad del Flujo Sanguíneo , Arteria Braquial/fisiología , Anomalías Cardiovasculares/diagnóstico por imagen , Grosor Intima-Media Carotídeo , Estudios Transversales , Femenino , Humanos , Hungría/epidemiología , Masculino , Persona de Mediana Edad , Morbilidad , Enfermedad del Hígado Graso no Alcohólico , Prevalencia , Flujo Pulsátil/fisiología , Factores de Riesgo , Túnica Íntima/fisiología , Gemelos Dicigóticos , Gemelos Monocigóticos , Rigidez Vascular/genéticaRESUMEN
BACKGROUND: Structural equation modeling developed as a statistical melding of path analysis and factor analysis that obscured a fundamental tension between a factor preference for multiple indicators and path modeling's openness to fewer indicators. DISCUSSION: Multiple indicators hamper theory by unnecessarily restricting the number of modeled latents. Using the few best indicators - possibly even the single best indicator of each latent - encourages development of theoretically sophisticated models. Additional latent variables permit stronger statistical control of potential confounders, and encourage detailed investigation of mediating causal mechanisms. SUMMARY: We recommend the use of the few best indicators. One or two indicators are often sufficient, but three indicators may occasionally be helpful. More than three indicators are rarely warranted because additional redundant indicators provide less research benefit than single indicators of additional latent variables. Scales created from multiple indicators can introduce additional problems, and are prone to being less desirable than either single or multiple indicators.
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Indicadores de Salud , Modelos Estadísticos , Proyectos de Investigación , Análisis de Varianza , Sesgo , Causalidad , Análisis Factorial , Humanos , Modelos Teóricos , Dinámicas no Lineales , Investigadores , Encuestas y CuestionariosRESUMEN
Using data from the Minnesota Twins Political Survey, this paper tests for the presence of unequal environments (EEA) by zygosity in political attitudes. Equal environment measures used include shared bedroom, friends, classes, and dressing alike. Results show an EEA violation at p < .05 in 5% of the models tested. The violations' impact on heritability estimates and their confidence levels appear random in magnitude and direction. No reasonable post hoc explanation emerged for understanding the presence of the violation in some items but not others. This article establishes reasonable priors for the absence of EEA violations in political phenotypes based on the tested environmental components. The findings place the burden on critics to present theoretical work on the specific mechanisms of EEA violations based on which additional empirical assessments could (and should) be conducted.
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Genética Conductual , Política , Gemelos Dicigóticos , Gemelos Monocigóticos , Adolescente , Adulto , Niño , Humanos , Trastornos Mentales , Fenotipo , Medio Social , Sociología , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genéticaRESUMEN
BACKGROUND: Genetics have a strong influence on calcified atherosclerotic plaques; however, data regarding the heritability of noncalcified plaque volume are scarce. We aimed to evaluate genetic versus environmental influences on calcium (coronary artery calcification) score, noncalcified and calcified plaque volumes by coronary computed tomography angiography in adult twin pairs without known coronary artery disease. METHODS: In the prospective BUDAPEST-GLOBAL (Burden of Atherosclerotic Plaques Study in Twins-Genetic Loci and the Burden of Atherosclerotic Lesions) classical twin study, we analyzed twin pairs without known coronary artery disease. All twins underwent coronary computed tomography angiography to assess coronary atherosclerotic plaque volumes. Structural equation models were used to quantify the contribution of additive genetic, common environmental, and unique environmental components to plaque volumes adjusted for age, gender, or atherosclerotic cardiovascular disease risk estimate and statin use. RESULTS: We included 196 twins (mean age±SD, 56±9 years, 63.3% females), 120 monozygotic and 76 same-gender dizygotic pairs. Using structural equation models, noncalcified plaque volume was predominantly determined by environmental factors (common environment, 63% [95% CI, 56%-67%], unique environment, 37% [95% CI, 33%-44%]), while coronary artery calcification score and calcified plaque volumes had a relatively strong genetic heritability (additive genetic, 58% [95% CI, 50%-66%]; unique environmental, 42% [95% CI, 34%-50%] and additive genetic, 78% [95% CI, 73%-80%]; unique environmental, 22% [95% CI, 20%-27%]), respectively. CONCLUSIONS: Noncalcified plaque volume is mainly influenced by shared environmental factors, whereas coronary artery calcification score and calcified plaque volume are more determined by genetics. These findings emphasize the importance of early lifestyle interventions in preventing coronary plaque formation. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT01738828.
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Aterosclerosis , Enfermedad de la Arteria Coronaria , Placa Aterosclerótica , Adulto , Anciano , Aterosclerosis/patología , Angiografía por Tomografía Computarizada/métodos , Angiografía Coronaria/métodos , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/epidemiología , Enfermedad de la Arteria Coronaria/genética , Vasos Coronarios/diagnóstico por imagen , Vasos Coronarios/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Placa Aterosclerótica/genética , Estudios Prospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Both genetic and environmental factors play a role in the pathogenesis of type 2 diabetes and cardiovascular diseases. The magnitude of genetic and environmental influences may vary in different populations and can be investigated by twin studies. METHODS: In this cross-sectional study, 101 (63 monozygotic and 38 dizygotic) adult twin pairs (n = 202; mean age: 44.3 ± 15.8 years) were investigated. Past medical history was recorded and physical examination was performed. Fasting venous blood samples were taken for measuring laboratory parameters. For assessing heritability of 14 cardiovascular risk factors, the structural equation (A-C-E) model was used. RESULTS: The following risk factors were highly (> 70.0%) or moderately (50.0 - 69.0%) heritable: weight (88.1%), waist circumference (71.0%), systolic blood pressure (57.1%), diastolic blood pressure (57.7%), serum creatinine (64.1%), fibrinogen (59.9%), and serum C-reactive protein (51.9%). On the other hand, shared and unique environmental influences had the highest proportion of total phenotypic variance in serum total cholesterol (46.8% and 53.2%), serum HDL-cholesterol (58.1% and 14.9%), triglycerides (0.0% and 55.9%), fasting blood glucose (57.1% and 42.9%), fasting insulin (45.4% and 54.5%), serum uric acid (46.0% and 31.3%), and serum homocysteine (71.8% and 28.2%, respectively). CONCLUSION: Some cardiometabolic risk factors have strong heritability while others are substantially influenced by environmental factors. Understanding the special heritability characteristics of a particular risk factor can substantiate further investigations, especially in molecular genetics. Moreover, identifying genetic and environmental contribution to certain cardiometabolic risk factors can help in designing prevention and treatment strategies in the population investigated.
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Peso Corporal/genética , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/metabolismo , Ambiente , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Glucemia/genética , Glucemia/metabolismo , Presión Sanguínea/genética , Proteína C-Reactiva/genética , Proteína C-Reactiva/metabolismo , HDL-Colesterol/sangre , HDL-Colesterol/genética , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Circunferencia de la Cintura/genética , Adulto JovenRESUMEN
Our aim in this study is to describe the characteristics of sexual development in twins and estimate the role of heritability and environmental factors as causes of certain sexual disorders. Two hundred and ten adult same-sex twin pairs (92 monozygotic [MZ] female, 41 MZ male, 55 dizygotic [DZ] female and 22 DZ male pairs) were involved in the study. Data were collected in 1982 by self-administered questionnaires that included items on sexual maturation, sexual life, contraception, mutual sexual activity within twin pairs and alcohol use. The ratio of married to unmarried twins was nearly the same in MZs and DZs, with the exception that the divorce rate was higher in MZ female twins (14%), and DZ and male twins were slightly more likely to be single. Menarche was later in twins compared to non-twin Hungarian women. 57% of MZs experienced menarche within 3 months of each other, 77% within 6 months while it occurred for 30% and 43% respectively in DZs. The first seminal emission indicated some delay in male twins compared with the Hungarian general population sample. MZ first kisses occurred later than DZ's first kisses. The same was true for the first petting, masturbation and first sexual intercourse. Anorgasmy is 27% heritable but the estimate is not statistically significant. Concordance rate for premature ejaculation in MZs was greater than in DZs but the structural equation model showed significant misfit. Age at menarche appeared to be strongly heritable.
Asunto(s)
Conducta Sexual/psicología , Desarrollo Sexual/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Adulto , Niño , Femenino , Humanos , Hungría , Masculino , Persona de Mediana Edad , Factores de Riesgo , Medio Social , Adulto JovenRESUMEN
UNLABELLED: Both genetic and environmental factors play role in the pathogenesis of the metabolic syndrome. The magnitude of genetic and environmental influences on the components of metabolic syndrome may vary in different populations. AIMS: The present study was aimed to determine the effects of genetic and environmental factors on risk factors characteristic for the metabolic syndrome. METHODS: A total of 101 (63 monozygotic and 38 dizygotic) adult twin pairs (n=202; mean age: 43.3±15.8 years) were investigated. Medical history was recorded and physical examination was carried out for each subject. Fasting venous blood samples were used for measuring laboratory parameters. The presented estimates include the heritability structural equation (A-C-E) model results. In Model-1, all presented parameters are age- and gender- corrected. In Model-2, parameters were corrected for age, gender, body mass index and waist circumference. RESULTS: Heritability in waist circumference (as well as in other anthropometric parameters such as weight and height) was high (Model-1: 71.0-88.1%). Similarly, genetic factors had the highest proportion of total phenotypic variance in systolic and diastolic blood pressure (Model-2: 57.1% and 57.7%, respectively). Based on the results of Model-2, unique environmental factors dominate alterations in serum triglycerides values (55.9%) while shared environmental factors proved to be substantial in alterations of HDL-cholesterol and fasting blood glucose values (58.1% and 57.1%, respectively). Comparing the results of Model-1 and Model-2, the difference in A-C-E model varied from 0.0% to 17.1%, indicating that only a minor proportion of genetic and environmental influences can be explained by the effects of anthropometric parameters. CONCLUSIONS: Among adult Hungarian healthy people, genetic factors have substantial influence on waist circumference and blood pressure values while environmental factors dominate alterations in serum triglycerides, HDL-cholesterol and fasting blood glucose values. The different heritability of individual risk factors challenges the original unifying concept of the metabolic syndrome. The results may be useful for establishing and implementing primary cardiovascular prevention both at individual and population levels.
Asunto(s)
Presión Sanguínea/genética , Síndrome Metabólico/genética , Circunferencia de la Cintura/genética , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Glucemia/metabolismo , Estatura/genética , Peso Corporal/genética , HDL-Colesterol/sangre , Ambiente , Ayuno , Femenino , Humanos , Hungría/epidemiología , Masculino , Síndrome Metabólico/epidemiología , Síndrome Metabólico/etiología , Síndrome Metabólico/prevención & control , Persona de Mediana Edad , Medición de Riesgo , Factores de Riesgo , Triglicéridos/sangre , Gemelos Dicigóticos , Gemelos MonocigóticosRESUMEN
OBJECTIVES OF THE STUDY: Nonalcoholic fatty liver disease (NAFLD) is a common condition with a subset of individuals developing liver fibrosis as a major risk factor for advanced liver disease. The contribution of genetic factors to this progression remains incompletely understood. Our aim was to analyze heritability in the development of liver fibrosis estimated by ultrasound shear wave elastography (SWE) in an asymptomatic adult twin cohort. METHODS: In total 172 adult Hungarian twins (51 monozygotic and 36 dizygotic pairs; 63% women; mean age 54.9 ± 15.1 years) underwent B-mode ultrasonography to assess steatosis and SWE to determine Young's modulus as a noninvasive marker or liver fibrosis. RESULTS: We identified 99 subjects with steatosis, which was mild in 46 subjects (46%), moderate in 52 subjects (52%) and severe in a single subject (1%). Mean Young's modulus was 7.58 ± 3.53 kPa in this slightly overweight study cohort (BMI: 25.7 ± 4.6 kg/m2). Univariate analysis adjusted for age, sex and BMI indicated no discernible role for genetic components in the presence of liver stiffness, whereas shared and unshared environmental effects accounted for 38.3% (95% confidence interval (CI), 17-56.1%) and 61.7% (95% CI, 43.9-83%). CONCLUSIONS: Our findings do not support the heritability of liver stiffness in an asymptomatic, twin cohort with slight overweight and variable degree of steatosis, underscoring the importance of environmental factors in the development of NAFLD and liver fibrosis.