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1.
Medicine (Baltimore) ; 99(40): e22558, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019467

RESUMO

RATIONALE: During ultrasound prenatal screening, absence of the fetal nasal bone is used as a marker for common aneuploidies in singleton pregnancies. However, its application in multiple pregnancies is less sensitive and more challenging owing to difficulties in obtaining adequate views of the fetal face. PATIENT CONCERNS: A 38-year-old woman with dichorionic-diamniotic (DCDA) pregnancy and a history of in vitro fertilization and embryo transfer was referred to our hospital with the absence of the nasal bone noted on ultrasound images obtained during the second trimester in 1 fetus. DIAGNOSIS: Prenatal sonographic examination revealed the absence of the nasal bone in 1 fetus in the DCDA gestation. Amniocentesis performed on the dual amniotic sacs revealed normal karyotypes for each twin. The absence of the nasal bone was confirmed on a radiograph obtained postnatally in 1 infant. INTERVENTIONS: The mother underwent routine outpatient care according to the gestational age and successfully delivered following lower-segment cesarean section. OUTCOMES: Two live infants were uneventfully delivered. Radiography confirmed the absence of the nasal bone in 1 of the newborns on postnatal day 3. The infants were followed up until 2 years and 9 months of age, which revealed normal appearance and eating and breathing functions. LESSONS: Prenatal diagnosis of the absence of nasal bone in 1 fetus of DCDA pregnancy has rarely been reported. Although a fetus with the absence of the nasal bone in DCDA gestation poses a significant risk of aneuploidy, it is acceptable when the defect is an isolated anomaly after ruling out genetic abnormalities. Appropriate consultation should be provided for these patients.


Assuntos
Fertilização In Vitro/efeitos adversos , Osso Nasal/anormalidades , Diagnóstico Pré-Natal/métodos , Adulto , Amniocentese/métodos , Cesárea/métodos , Transferência Embrionária , Feminino , Feto , Humanos , Osso Nasal/diagnóstico por imagem , Gravidez , Segundo Trimestre da Gravidez , Gravidez Múltipla , Radiografia , Gêmeos Dizigóticos , Ultrassonografia Pré-Natal/métodos
2.
PLoS Negl Trop Dis ; 14(8): e0008424, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32745093

RESUMO

Zika virus (ZIKV) causes congenital Zika syndrome (CZS), which is characterized by fetal demise, microcephaly and other abnormalities. ZIKV in the pregnant woman circulation must cross the placental barrier that includes fetal endothelial cells and trophoblasts, in order to reach the fetus. CZS occurs in ~1-40% of cases of pregnant women infected by ZIKV, suggesting that mothers' infection by ZIKV during pregnancy is not deterministic for CZS phenotype in the fetus. Therefore, other susceptibility factors might be involved, including the host genetic background. We have previously shown that in three pairs of dizygotic twins discordant for CZS, neural progenitor cells (NPCs) from the CZS-affected twins presented differential in vitro ZIKV susceptibility compared with NPCs from the non-affected. Here, we analyzed human-induced-pluripotent-stem-cell-derived (hiPSC-derived) trophoblasts from these twins and compared by RNA-Seq the trophoblasts from CZS-affected and non-affected twins. Following in vitro exposure to a Brazilian ZIKV strain (ZIKVBR), trophoblasts from CZS-affected twins were significantly more susceptible to ZIKVBR infection when compared with trophoblasts from the non-affected. Transcriptome profiling revealed no differences in gene expression levels of ZIKV candidate attachment factors, IFN receptors and IFN in the trophoblasts, either before or after ZIKVBR infection. Most importantly, ZIKVBR infection caused, only in the trophoblasts from CZS-affected twins, the downregulation of genes related to extracellular matrix organization and to leukocyte activation, which are important for trophoblast adhesion and immune response activation. In addition, only trophoblasts from non-affected twins secreted significantly increased amounts of chemokines RANTES/CCL5 and IP10 after infection with ZIKVBR. Overall, our results showed that trophoblasts from non-affected twins have the ability to more efficiently activate genes that are known to play important roles in cell adhesion and in triggering the immune response to ZIKV infection in the placenta, and this may contribute to predict protection from ZIKV dissemination into fetuses' tissues.


Assuntos
Expressão Gênica , Trofoblastos/metabolismo , Gêmeos Dizigóticos , Infecção por Zika virus/congênito , Quimiocinas/metabolismo , Matriz Extracelular , Feminino , Predisposição Genética para Doença , Humanos , Células-Tronco Pluripotentes Induzidas , Lactente , Gravidez , Complicações Infecciosas na Gravidez/genética , Complicações Infecciosas na Gravidez/virologia , Trofoblastos/virologia , Zika virus , Infecção por Zika virus/genética
3.
J Oral Rehabil ; 47(9): 1110-1119, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32613647

RESUMO

BACKGROUND: Sleep bruxism (SB) and awake bruxism (AB) have been considered different entities, although co-occurrence between them has been shown. While genetic factors have a marked influence on phenotypic variance in liability to SB, this remains unclear for AB. AIM: To examine the degree of co-occurrence of SB and AB, and whether they have common correlates and also twin similarity of SB and AB bruxism traits by zygosity and sex. METHODS: A questionnaire was mailed to all twins born 1945-1957 in Finland in 2012 (n = 11 766). Age and sex adjusted logistic regression models were used. Twin similarity was assessed using polychoric correlations, and crosstwin-crosstrait correlations were computed. RESULTS: The response rate was 72% (n = 8410). Any SB was reported by 14.8% and ≥ 3 nights weekly by 5.0%. Percentages for any AB were 18.4% and 6.3%, respectively. There was substantial co-occurrence (29.5%) between SB and AB, and several shared correlates were found. For SB, the polychoric intra-class correlation was 0.366 in monozygotic (MZ) and 0.200 in dizygotic (DZ) pairs, without gender difference. A twofold crosstwin-crosstrait correlation was observed in MZ twins compared to DZ twins. CONCLUSIONS: The risk factor profiles of SB and AB were largely but not entirely similar. The higher correlation in MZ than in DZ pairs suggests the influence of genetic factors on both SB and AB. The higher crosstwin-crosstrait correlation in MZ than in DZ pairs suggests some degree of genetic influences shared by SB and AB.


Assuntos
Gêmeos Dizigóticos , Vigília , Finlândia , Humanos , Autorrelato , Gêmeos Monozigóticos
4.
Medicine (Baltimore) ; 99(25): e20730, 2020 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-32569212

RESUMO

BACKGROUND: Published findings on perinatal outcomes of multifetal pregnancy reduction (MPR) of dichorionic diamniotic (DCDA) twin pregnancy to singleton are controversial. We performed a meta-analysis to appraise the effects of MPR of DCDA twin pregnancy versus expectant management on perinatal outcomes. METHODS: Four electronic databases were searched from their inception to June 15, 2019, to identify publications that appraised MPR before 15 weeks of gestation. Studies reporting perinatal outcomes of both MPR of DCDA twin pregnancy to singleton and expectant management were considered. The relative risks (RRs) and mean differences with 95% confidence intervals (CIs) were pooled using a random-effects model. RESULTS: Six studies involving 7398 participants showed that MPR of DCDA twin pregnancy to singleton was associated with a lower risk of preterm birth (5 studies with 7297 participants; RR: 0.30, 95% CI: 0.22-0.40; P < .001) and higher birth weight (4 studies with 5763 participants; mean differences: 548.10 g, 95% CI: 424.04-672.15; P < .001) than expectant management; there was no difference in the occurrence of miscarriages (5 studies with 7355 participants; RR: 1.57, 95% CI: 0.90-2.75; P = .11). Sensitivity analysis showed that all the results were stable and reliable, with the omission of 2 studies with serious risk of bias. CONCLUSION: Compared to expectant management, MPR of DCDA twin pregnancy to singleton prevents preterm birth and low birth weight, without increasing the risk of miscarriages. Regarding perinatal morbidity related to preterm birth, MPR can be reserved as a remediation measure to improve the perinatal outcomes of DCDA twin pregnancies.


Assuntos
Resultado da Gravidez , Redução de Gravidez Multifetal , Adulto , Âmnio/anatomia & histologia , Córion/anatomia & histologia , Feminino , Humanos , Gravidez , Gravidez de Gêmeos , Gemelação Dizigótica , Gêmeos Dizigóticos , Conduta Expectante
5.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(6): 819-823, 2020 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-32564542

RESUMO

Objective: To explore the genetic and environmental effects on alcohol intake. Methods: Data on 9 231 pairs of adult twins of the same sex was collected from the Chinese National Twin Registry (CNTR), between 2015 and 2018 and used in this study. Structural equation model was used to estimate the effects of genetic and environmental factors on alcohol intake. Results: A total of 9 231 pairs of twins were included in the analysis, of which 6 085 pairs were monozygotic (MZ). The average age of MZ was (36.91±13.07) years old, and males accounted for 56.80%. The average age of dizygotic twins (DZ) was (35.22±12.48) years old, and males accounted for 55.91%. There were 350 pairs of alcohol-drinking twins were with high-risk, accounting for 1.90% and another 367 pairs (1.99%) were with medium-risk. Alcohol-drinkers with medium-risk were affected by additive genetics, common and unique environmental factors, seen among the twins. The overall heritability appeared as 24.3% (95%CI: 0 to 56.8%). Furthermore, 50.7% of the variation (95%CI: 20.4%-79.0%) could be explained by the common environmental factors and 24.9% (95%CI: 18.3%-36.5%) by unique environmental factors. High-risk related drinking behavior was affected by both common and unique environmental factors. The common environmental component appeared as 75.6% (95%CI: 69.6%-80.8%) and unique environmental component as 24.4% (95%CI: 19.2%-30.4%), respectively. Gender difference was seen in the heritability of those with medium or high-risk drinking behaviors. The heritability of men was 30.8% (95%CI: 9.8%-53.5%), while in women it was mainly affected by the environment. Conclusion: Both alcohol drinkers with medium and high-risk drinking behaviors were mainly affected by the environment factors and gender. With the increase of drinking volume, the effect of environment on drinking behaviors became more obvious.


Assuntos
Consumo de Bebidas Alcoólicas/genética , Gêmeos Dizigóticos/psicologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Teóricos , Gêmeos Dizigóticos/estatística & dados numéricos
6.
Nat Ecol Evol ; 4(7): 987-992, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32393867

RESUMO

Dizygotic twinning, the simultaneous birth of siblings when multiple ova are released, is an evolutionary paradox. Twin-bearing mothers often have elevated fitness, but despite twinning being heritable, twin births occur only at low frequencies in human populations. We resolve this paradox by showing that twinning and non-twinning are not competing strategies; instead, dizygotic twinning is the outcome of an adaptive conditional ovulatory strategy of switching from single to double ovulation with increasing age. This conditional strategy, when coupled with the well-known decline in fertility as women age, maximizes reproductive success and explains the increase and subsequent decrease in the twinning rate with maternal age that is observed across human populations. We show that the most successful ovulatory strategy would be to always double ovulate as an insurance against early fetal loss, but to never bear twins. This finding supports the hypothesis that twinning is a by-product of selection for double ovulation rather than selection for twinning.


Assuntos
Gemelação Dizigótica , Gêmeos Dizigóticos , Feminino , Fertilidade , Humanos , Idade Materna
7.
Eur J Endocrinol ; 182(5): 473-480, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32229696

RESUMO

Objective: Co-aggregation of autoimmune diseases is common, suggesting partly shared etiologies. Genetic factors are believed to be important, but objective measures of environmental vs heritable influences on co-aggregation are absent. With a novel approach to twin studies, we aimed at estimating heritability and genetic overlap in seven organ-specific autoimmune diseases. Design: Prospective twin cohort study. Methods: We used a cohort of 110 814 twins to examine co-aggregation and heritability of Hashimoto's thyroiditis, atrophic gastritis, celiac disease, Graves' disease, type 1 diabetes, vitiligo and Addison's disease. Hazard ratios (HR) were calculated for twins developing the same or different disease as compared to their co-twin. The differences between monozygotic and dizygotic twin pairs were used to estimate the genetic influence on co-aggregation. Heritability for individual disorders was calculated using structural equational modeling adjusting for censoring and truncation of data. Results: Co-aggregation was more pronounced in monozygotic twins (median HR: 3.2, range: 2.2-9.2) than in dizygotic twins (median HR: 2.4, range: 1.1-10.0). Heritability was moderate for atrophic gastritis (0.38, 95% CI: 0.23-0.53) but high for all other diseases, ranging from 0.60 (95% CI: 0.49-0.71) for Graves' disease to 0.97 (95% CI: 0.91-1.00) for Addison's disease. Conclusions: Overall, co-aggregation was more pronounced in monozygotic than in dizygotic twins, suggesting that disease overlap is largely attributable to genetic factors. Co-aggregation was common, and twins faced up to a ten-fold risk of developing diseases not present in their co-twin. Our results validate and refine previous heritability estimates based on smaller twin cohorts.


Assuntos
Autoimunidade/fisiologia , Doença de Addison/genética , Autoimunidade/genética , Doença Celíaca/genética , Estudos de Coortes , Feminino , Gastrite Atrófica/genética , Predisposição Genética para Doença/genética , Doença de Graves/genética , Humanos , Masculino , Modelos de Riscos Proporcionais , Estudos Prospectivos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
9.
Arch Dis Child ; 105(9): 864-868, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32156695

RESUMO

OBJECTIVES: To assess evidence supporting the view that 'low fibre causes childhood constipation'. DESIGN: Triangulation integrated three approaches: a systematic review NICE guideline CG99 examining effectiveness of increasing fibre; a cohort study, Avon Longitudinal Study of Parents and Children (ALSPAC), to assess if constipation (or hard stools) can precede fibre intake at weaning; and a literature search for twin studies to calculate heredity. SETTING: CG99 examined the literature regarding the effectiveness of increasing fibre. ALSPAC asked parents about: hard stools at 4 weeks, 6 months and 2.5 years and constipation at age 4-10 years, as well as fibre intake at 2 years. Twin studies and data from ALSPAC were pooled to calculate concordance of constipation comparing monozygotic and dizygous twin pairs. PARTICIPANTS: CG99 reported six randomised controlled trials (RCTs). ALSPAC hard stool data from 6796 children at 4 weeks, 9828 at 6 months and 9452 at 2.5 years plus constipation data on 8401 at 4-10 years were compared with fibre intake at 2 years. Twin studies had 338 and 93 twin pairs and ALSPAC added a further 45. RESULTS: Increasing fibre did not effectively treat constipation. Hard stools at 4 weeks predated fibre and at 6 months predicted lower fibre intake at 2 years (p=0.003). Heredity explained 59% of constipation. CONCLUSIONS: RCTs indicate that increasing fibre is not an effective treatment for constipation in children. Hard stools can precede and predict later fibre intake. Genetic inheritance explains most childhood constipation. Extended treatment with stool softeners may improve fibre intake and limit long-term damaging sequelae of constipation.


Assuntos
Constipação Intestinal/etiologia , Fibras na Dieta/deficiência , Adolescente , Criança , Pré-Escolar , Constipação Intestinal/epidemiologia , Constipação Intestinal/genética , Fibras na Dieta/administração & dosagem , Doenças em Gêmeos/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Inquéritos e Questionários , Gêmeos Dizigóticos , Gêmeos Monozigóticos
10.
Nat Commun ; 11(1): 709, 2020 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-32024844

RESUMO

Human visual cortex contains discrete areas that respond selectively to specific object categories such as faces, bodies, and places. A long-standing question is whether these areas are shaped by genetic or environmental factors. To address this question, here we analyzed functional MRI data from an unprecedented number (n = 424) of monozygotic (MZ) and dizygotic (DZ) twins. Category-selective maps were more identical in MZ than DZ twins. Within each category-selective area, distinct subregions showed significant genetic influence. Structural MRI analysis revealed that the 'genetic voxels' were predominantly located in regions with higher cortical curvature (gyral crowns in face areas and sulcal fundi in place areas). Moreover, we found that cortex was thicker and more myelinated in genetic voxels of face areas, while it was thinner and less myelinated in genetic voxels of place areas. This double dissociation suggests a differential development of face and place areas in cerebral cortex.


Assuntos
Modelos Genéticos , Córtex Visual/diagnóstico por imagem , Córtex Visual/fisiologia , Adulto , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Memória de Curto Prazo , Experimentação Humana não Terapêutica , Estimulação Luminosa , Gêmeos Dizigóticos , Gêmeos Monozigóticos
11.
Gac Med Mex ; 156(1): 53-59, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32026884

RESUMO

In this essay, the bioethical implications of the recent genetic manipulation in human embryos with CRISPR-Cas9 to eliminate the CCR5 gene and the birth of a pair of discordant twin girls are analyzed. The experiment was disseminated via social media. The main bioethical flaws identified include the justification of the model, the informed consent process and the lack of disclosure of evident conflicts of interest. The consequences of the experiment on the life of the twins that were born were not properly evaluated, such as the impact on their autonomy, the alleged benefits to be received and the future risks of harm during their lifetime. Having manipulated the germ cell line, the effects on their future offspring were not considered. This type of actions negatively affects the way society conceives science. Genetic engineering should be reserved to the basic experimental context or as clinical research for the correction of known serious diseases of genetic origin under strict regulatory and bioethical supervision and using a gradualist approach in accordance with the advances of gene editing techniques.


Assuntos
Sistemas CRISPR-Cas , Edição de Genes/ética , Receptores CCR5/genética , Temas Bioéticos , China , Conflito de Interesses , Feminino , Engenharia Genética/classificação , Engenharia Genética/ética , Genoma Humano , Infecções por HIV/prevenção & controle , Humanos , Consentimento Livre e Esclarecido/ética , Editoração/ética , Projetos de Pesquisa , Injeções de Esperma Intracitoplásmicas , Experimentação Humana Terapêutica/ética , Gêmeos Dizigóticos
12.
Behav Genet ; 50(2): 127-138, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32040643

RESUMO

The univariate bootstrap is a relatively recently developed version of the bootstrap (Lee and Rodgers in Psychol Methods 3(1): 91, 1998). DeFries-Fulker (DF) analysis is a regression model used to estimate parameters in behavioral genetic models (DeFries and Fulker in Behav Genet 15(5): 467-473, 1985). It is appealing for its simplicity; however, it violates certain regression assumptions such as homogeneity of variance and independence of errors that make calculation of standard errors and confidence intervals problematic. Methods have been developed to account for these issues (Kohler and Rodgers in Behav Genet 31(2): 179-191, 2001), however the univariate bootstrap represents a unique means of doing so that is presaged by suggestions from previous DF research (e.g., Cherny et al. in Behav Genet 22(2): 153-162, 1992). In the present study we use simulations to examine the performance of the univariate bootstrap in the context of DF analysis. We compare a number of possible bootstrap schemes as well as more traditional confidence interval methods. We follow up with an empirical demonstration, applying results of the simulation to models estimated to investigate changes in body mass index in adults from the National Longitudinal Survey of Youth 1979 data.


Assuntos
Interpretação Estatística de Dados , Genética Comportamental/métodos , Modelos Estatísticos , Adolescente , Adulto , Índice de Massa Corporal , Peso Corporal/genética , Intervalos de Confiança , Feminino , Humanos , Estudos Longitudinais , Masculino , Modelos Genéticos , Fenótipo , Análise de Regressão , Meio Social , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto Jovem
13.
Orthod Craniofac Res ; 23(2): 192-201, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31746097

RESUMO

OBJECTIVE: The aims of this longitudinal analysis of untreated monozygotic and dizygotic twins were to investigate vertical changes of the craniofacial structures during growth, to determine the concordance between genetically twins and to assess the genetic component for the various aspects of vertical growth. SETTINGS AND SAMPLE POPULATION: The sample consisted of 34 pairs of untreated monozygotic twins (23 male, 11 female) and 30 untreated dizygotic siblings of multiple birth (8 male, 8 female and 14 mixed) from the Forsyth Moorrees Twin Study (1959-1975); lateral cephalograms taken from 6 to 18 years of age were analysed at 3-year intervals. MATERIALS AND METHODS: Cephalograms were traced, and longitudinal changes between twins in six angular and proportional vertical cephalometric variables (SN-NL, ML-NL, SN-ML, y-axis, PFH/AFH and LAFH/AFH) were analysed with intraclass correlation coefficients and linear regression modelling. RESULTS: The concordance between monozygotic/dizygotic twins at 18 years of age was moderate to high with intraclass correlation coefficient values between 0.51 and 0.66. Additionally, sex differences in concordance at 18 years of age were found for three variables. High heritability (66%-79%) was observed for 5 of the 6 variables (LAFH/AFH, ML-NL, y-axis, SN-ML, PFH/AFH), while SN-NL showed limited heritability (34%). CONCLUSIONS: Although monozygotic/dizygotic twins share at least part of their genetic material, differences in the vertical dimension were found. This supports the complex developmental mechanism of the human face and the varying influence of genetic and environmental factors.


Assuntos
Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adolescente , Cefalometria , Criança , Estudos de Coortes , Feminino , Humanos , Estudos Longitudinais , Masculino
14.
Lipids Health Dis ; 18(1): 222, 2019 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-31836004

RESUMO

BACKGROUNDS: Triglyceride (TG) is known to be regulated by multiple lifestyle factors rather than genetic factors. This cross-sectional and community-based study (Healthy Twin study in Korea) aimed to estimate the "modifiable TG level" by identifying non-genetic risk factors of TG. METHODS: Participants were recruited between 2006 and 2011 who fulfilled health examinations and detail surveys: 3079 Korean adults including 949 monozygotic twins and 222 dizygotic twins. In order to investigate conventional risk factors, a mixed model accounting for family as a random effect was performed. In addition, we conducted a co-twin control analysis for 452 monozygotic twin (MZ) pairs, to examine non-genetic risk factors and potentially modifiable serum triglyceride levels. RESULTS: After excluding patients on dyslipidemia or diabetes medication, 2672 individuals (1029 men, with mean age of 43.9; and 1643 women with mean age of 43.3; 949 MZ pairs, 222 dizygotic twin pairs, and 1501sibling pairs) were analyzed. Fasting blood sugar (FBS), lipid panel, height, weight, waist (WC) and hip circumference, body mass index (BMI), amount of dietary intake and amount of physical activity was examined after adjusting for age and sex. For conventional analysis, WC, fat %, and BMI were identified as significant factors influencing serum triglyceride levels. Examination of non-genetic factors from the Co-twin control study revealed BMI (beta coefficient 9.94 with C.I. 3.42 to 16.46) and amount of alcohol intake (beta coefficient 0.08 with C.I. 0.02 to 0.14) as significant factors. CONCLUSION: Our findings suggest that controlling body weight and alcohol intake might be effective to control TG; moderate weight control (BMI 1 reduction) and reducing alcohol consumption by 50 g/week (about two glassed of beer) might reduce TG level by 9.94 and 4.0 mg/dL.


Assuntos
Hipertrigliceridemia/prevenção & controle , Triglicerídeos/sangue , Adulto , Consumo de Bebidas Alcoólicas , Glicemia/análise , Índice de Massa Corporal , Estudos Transversais , Feminino , Predisposição Genética para Doença , Humanos , Hipertrigliceridemia/etiologia , Hipertrigliceridemia/genética , Masculino , Pessoa de Meia-Idade , República da Coreia , Fatores de Risco , Fatores Sexuais , Fumar , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Circunferência da Cintura
15.
Twin Res Hum Genet ; 22(6): 609-610, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31840625

RESUMO

Despite the well-known relevance of twin studies in the medical and social sciences and the growing number of twin registries throughout the world, Latin America has not fully incorporated into the twin research community. We describe the first steps taken toward developing a twin registry in Mexico: its aim, organization, recruiting potential and main short-term objectives.


Assuntos
Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/genética , Sistema de Registros/estatística & dados numéricos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , México/epidemiologia , Pais , Seleção de Pacientes , Inquéritos e Questionários
16.
Twin Res Hum Genet ; 22(6): 681-685, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31868161

RESUMO

The Arizona Twin Project is an ongoing longitudinal study designed to elucidate gene-environment interplay underlying the development of risk and resilience to common mental and physical health problems during infancy, childhood and adolescence. Specificity of risk is carefully examined across mental and physical health and how these influences vary across socioeconomic and sociocultural environments. Participants are a sample of approximately 700 twins (31% Latinx) recruited from birth records in the state of Arizona, USA. Twins are 32% monozygotic twins, 36% same-sex dizygotic (DZ), 32% opposite-sex DZ, currently 10-11 years of age. Primary caregivers were interviewed on twins' development and early physical and social environments when twins were 1, 2 and 5 years of age. In-depth objective measurement commenced in middle childhood, with in-person assessments at 8-11 years of age, with plans to continue to follow the sample across adolescence. Middle childhood measures focus on children's physical and mental health, including diurnal cortisol, actigraphy-based measures of sleep and activity, cold pressor task assessing acute pain, and reaction time tasks assessing executive functioning. Preliminary findings illustrate that objective assessments of children's health are highly heritable, but they do not always share genetic etiology with more commonly used subjective assessments. Exposure to early adversity moderates genetic influences on both executive functioning and health, with higher heritability typically seen under adverse conditions. Future directions include an examination of how pubertal stage affects genetic and environmental influences on diurnal cortisol, sleep, chronic pain, and mental health.


Assuntos
Doenças em Gêmeos/epidemiologia , Interação Gene-Ambiente , Transtornos Mentais/epidemiologia , Psicopatologia , Sistema de Registros/estatística & dados numéricos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Arizona/epidemiologia , Criança , Pré-Escolar , Doenças em Gêmeos/patologia , Doenças em Gêmeos/psicologia , Feminino , Seguimentos , Humanos , Lactente , Estudos Longitudinais , Masculino , Transtornos Mentais/patologia , Transtornos Mentais/psicologia , Dor/genética , Dor/fisiopatologia , Sono/genética , Meio Social , Inquéritos e Questionários
17.
Twin Res Hum Genet ; 22(6): 606-608, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31875802

RESUMO

The South Korean Twin Registry (SKTR) is an ongoing nationwide volunteer registry of South Korean twins and their families. Since its inception, from preschooler to young adult, twins have been registered with the SKTR and have demonstrated that relative influences of genetic and environmental factors explaining individual differences in various psychological, mental health and physical traits in South Koreans are similar to those found in many Western twin studies. Currently, studies at the SKTR focus on identification of the process of gene-by-environment interactions as well as developmental differences in genetic and environmental influences on psychological and mental health traits in South Koreans. This report provides a brief overview, recruitment strategies, current samples, zygosity assessment, measures and future directions of the SKTR.


Assuntos
Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/genética , Interação Gene-Ambiente , Sistema de Registros/estatística & dados numéricos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Adulto , Criança , Doenças em Gêmeos/psicologia , Feminino , Seguimentos , Humanos , Masculino , Modelos Genéticos , República da Coreia/epidemiologia , Gêmeos Dizigóticos/psicologia , Gêmeos Monozigóticos/psicologia , Adulto Jovem
18.
Twin Res Hum Genet ; 22(6): 660-666, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31875804

RESUMO

The first twin study in Serbia began in 2011 as a part of the research project, 'Psychological Foundations of Mental Health: Hereditary and Environmental Factors'. At the same time, the research team from the Faculty of Philosophy and Faculty of Medicine in Novi Sad established the first Serbian twin registry. The registry is intended primarily for the purpose of the research in behavioral genetics, as well as potential future studies in human genetics. It includes information on 1658 volunteers, including twin-pairs, their parent and siblings. The behavioral genetic study of adult twins has been focused on the hereditary and environmental sources of variance of different psychological characteristics, such as personality traits, cognitive abilities, executive functions and aggression, as well as some anthropometric measures and aspects of mental and physical health. Certain molecular genetic analyses have also been performed. The research team is currently starting the longitudinal twin study of children, which will be focused on different indicators of emotional, cognitive and physical development.


Assuntos
Doenças em Gêmeos/epidemiologia , Genética Comportamental , Personalidade/genética , Sistema de Registros/estatística & dados numéricos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Adulto , Criança , Pré-Escolar , Doenças em Gêmeos/genética , Doenças em Gêmeos/psicologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Saúde Mental , Pessoa de Meia-Idade , Sérvia/epidemiologia , Irmãos , Adulto Jovem
19.
Int J Immunopathol Pharmacol ; 33: 2058738419855873, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31663445

RESUMO

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component. However, phenotype concordance for orofacial cleft in monozygotic twins is about 50%. The aim of the present investigation was to detect postzygotic events that may account for discordance in monozygotic twins. High-density SNP microarrays hybridization was used to genotype two pairs of monozygotic twins discordant for nsCL/P. Discordant SNP genotypes and copy number variants were analyzed to identify genetic differences responsible of phenotype discrepancy. A number of differences were observed, none involving known nsCL/P candidate genes or genomic regions. Considering the limitation of the study, related to the small sample size and to the large-scale investigation method, the results suggest that the detection of discordant events in other monozygotic twin pairs would be remarkable and warrant further investigations.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Variações do Número de Cópias de DNA/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Genótipo , Humanos , Fenótipo , Polimorfismo de Nucleotídeo Único/genética
20.
Behav Genet ; 49(5): 432-443, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31502010

RESUMO

Bullying comes in different forms, yet most previous genetically-sensitive studies have not distinguished between them. Given the serious consequences and the high prevalence of bullying, it is remarkable that the aetiology of bullying and its different forms has been under-researched. We present the first study to investigate the genetic architecture of bullying perpetration, bullying victimization, and their co-occurrence for verbal, physical and relational bullying. Primary-school teachers rated 8215 twin children on bullying perpetration and bullying victimization. For each form of bullying, we investigated, through genetic structural equation modelling, the genetic and environmental influences on being a bully, a victim or both. 34% of the children were involved as bully, victim, or both. The correlation between being a bully and being a victim varied from 0.59 (relational) to 0.85 (physical). Heritability was ~ 70% for perpetration and ~ 65% for victimization, similar in girls and boys, yet both were somewhat lower for the relational form. Shared environmental influences were modest and more pronounced among girls. The correlation between being a bully and being a victim was explained mostly by genetic factors for verbal (~ 71%) and especially physical (~ 77%) and mostly by environmental factors for relational perpetration and victimization (~ 60%). Genes play a large role in explaining which children are at high risk of being a victim, bully, or both. For victimization this suggests an evocative gene-environment correlation: some children are at risk of being exposed to bullying, partly due to genetically influenced traits. So, genetic influences make some children more vulnerable to become a bully, victim or both.


Assuntos
Bullying/classificação , Vítimas de Crime/classificação , Criança , Meio Ambiente , Feminino , Interação Gene-Ambiente , Hereditariedade/genética , Humanos , Masculino , Modelos Genéticos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
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