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1.
Biol Psychiatry ; 2019 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-31570195

RESUMO

BACKGROUND: The prevalence of depression is higher in individuals with autoimmune diseases, but the mechanisms underlying the observed comorbidities are unknown. Shared genetic etiology is a plausible explanation for the overlap, and in this study we tested whether genetic variation in the major histocompatibility complex (MHC), which is associated with risk for autoimmune diseases, is also associated with risk for depression. METHODS: We fine-mapped the classical MHC (chr6: 29.6-33.1 Mb), imputing 216 human leukocyte antigen (HLA) alleles and 4 complement component 4 (C4) haplotypes in studies from the Psychiatric Genomics Consortium Major Depressive Disorder Working Group and the UK Biobank. The total sample size was 45,149 depression cases and 86,698 controls. We tested for association between depression status and imputed MHC variants, applying both a region-wide significance threshold (3.9 × 10-6) and a candidate threshold (1.6 × 10-4). RESULTS: No HLA alleles or C4 haplotypes were associated with depression at the region-wide threshold. HLA-B*08:01 was associated with modest protection for depression at the candidate threshold for testing in HLA genes in the meta-analysis (odds ratio = 0.98, 95% confidence interval = 0.97-0.99). CONCLUSIONS: We found no evidence that an increased risk for depression was conferred by HLA alleles, which play a major role in the genetic susceptibility to autoimmune diseases, or C4 haplotypes, which are strongly associated with schizophrenia. These results suggest that any HLA or C4 variants associated with depression either are rare or have very modest effect sizes.

2.
Twin Res Hum Genet ; : 1-5, 2019 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-31500683

RESUMO

The Murcia Twin Registry (MTR) is the only population-based registry in Spain. Created in 2006, the registry has been growing more than a decade to become one of the references for twin research in the Mediterranean region. The MTR database currently comprises 3545 adult participants born between 1940 and 1977. It also holds a recently launched satellite registry of university students (N = 204). Along five waves of data collection, the registry has gathered questionnaire and anthropometric data, as well as biological samples. The MTR keeps its main research focus on health and health-related behaviors from a public health perspective. This includes lifestyle, health promotion, quality of life or environmental conditions. Future short-term development points to the expansion of the biobank and the continuation of the collection of longitudinal data.

3.
Psychosom Med ; 81(9): 799-807, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31469771

RESUMO

OBJECTIVE: Neuroticism is associated with poor health outcomes, but its contribution to the accumulation of health deficits in old age, that is, the frailty index, is largely unknown. We aimed to explore associations between neuroticism and frailty cross-sectionally and longitudinally, and to investigate the contribution of shared genetic influences. METHODS: Data were derived from the UK Biobank (UKB; n = 274,951), the Australian Over 50's Study (AO50; n = 2849), and the Swedish Twin Registry (Screening Across the Lifespan of Twins Study [SALT], n = 18,960; The Swedish Adoption/Twin Study of Aging [SATSA], n = 1365). Associations between neuroticism and the frailty index were investigated using regression analysis cross-sectionally in UKB, AO50, and SATSA and longitudinally in SALT (25-29 years of follow-up) and SATSA (6 and 23 years of follow-up). The co-twin control method was applied to explore the contribution of underlying shared familial factors (SALT, SATSA, AO50). Genome-wide polygenic risk scores for neuroticism were used in all samples to further assess whether common genetic variants associated with neuroticism predict frailty. RESULTS: High neuroticism was consistently associated with greater frailty cross-sectionally (adjusted ß [95% confidence intervals] in UKB = 0.32 [0.32-0.33]; AO50 = 0.35 [0.31-0.39]; SATSA = 0.33 [0.27-0.39]) and longitudinally up to 29 years (SALT = 0.24 [0.22-0.25]; SATSA 6 years = 0.31 [0.24-0.38]; SATSA 23 years = 0.16 [0.07-0.25]). When adjusting for underlying shared genetic and environmental factors, the neuroticism-frailty association remained significant, although decreased. Polygenic risk scores for neuroticism significantly predicted frailty in the two larger samples (meta-analyzed total ß = 0.059 [0.055-0.062]). CONCLUSIONS: Neuroticism in midlife predicts frailty in late life. Neuroticism may have a causal influence on frailty, whereas both environmental and genetic influences, including neuroticism-associated common genetic variants, contribute to this relationship.

4.
J Health Psychol ; : 1359105319859048, 2019 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-31244342

RESUMO

This study examined the extent to which psychosocial impact of nausea and vomiting during pregnancy predicts postpartum depression using a retrospective design. Data from a cross-sectional survey investigating women's experiences of nausea and vomiting during pregnancy were used (N = 861). Hierarchical logistic regression models revealed that the psychosocial impact of nausea and vomiting in pregnancy appears to be predictive of postpartum depression, independent of depression status before and during pregnancy. Our findings indicate that assessing the psychosocial impact of nausea and vomiting in pregnancy during antenatal care may identify women at risk of postpartum depression.

5.
Obes Rev ; 20(8): 1121-1131, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30985072

RESUMO

Obesity has inconsistent associations with broad personality domains, possibly because the links pertain to only some facets of these domains. Collating published and unpublished studies (N = 14 848), we meta-analysed the associations between body mass index (BMI) and Five-Factor Model personality domains as well as 30 Five-Factor Model personality facets. At the domain level, BMI had a positive association with Neuroticism and a negative association with Conscientiousness domains. At the facet level, we found associations between BMI and 15 facets from all five personality domains, with only some Neuroticism and Conscientiousness facets among them. Certain personality-BMI associations were moderated by sample properties, such as proportions of women or participants with obesity; these moderation effects were replicated in the individual-level analysis. Finally, facet-based personality "risk" scores accounted for 2.3% of variance in BMI in a separate sample of individuals (N = 3569), 409% more than domain-based scores. Taken together, personality-BMI associations are facet specific, and delineating them may help to explain obesity-related behaviours and inform intervention designs. Preprint and data are available at https://psyarxiv.com/z35vn/.

6.
Nat Commun ; 10(1): 1052, 2019 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-30837455

RESUMO

Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461,106) heritability is estimated at 8.2% (95% CI: 6.4%, 9.9%). This study finds 97 variants which alter the odds of developing non-specific mouth ulcers and replicate these in an independent cohort (n = 355,744) (lead variant after meta-analysis: rs76830965, near IL12A, OR 0.72 (95% CI: 0.71, 0.73); P = 4.4e-483). Additional effect estimates from three independent cohorts with more specific phenotyping and specific study characteristics support many of these findings. In silico functional analyses provide evidence for a role of T cell regulation in the aetiology of mouth ulcers. These results provide novel insight into the pathogenesis of a common, important condition.


Assuntos
Loci Gênicos/imunologia , Predisposição Genética para Doença , Fatores Imunológicos/genética , Úlceras Orais/genética , Estomatite Aftosa/genética , Adulto , Idoso , Estudos de Coortes , Simulação por Computador , Feminino , Estudo de Associação Genômica Ampla , Humanos , Fatores Imunológicos/imunologia , Masculino , Pessoa de Meia-Idade , Úlceras Orais/imunologia , Estomatite Aftosa/imunologia , Linfócitos T/imunologia
7.
Twin Res Hum Genet ; 22(1): 1-3, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30661510

RESUMO

We recently reported an association of offspring educational attainment with polygenic risk scores (PRS) computed on parent's non-transmitted alleles for educational attainment using the second GWAS meta-analysis article on educational attainment published by the Social Science Genetic Association Consortium. Here we test the replication of these findings using a more powerful PRS from the third GWAS meta-analysis article by the Consortium. Each of the key findings of our previous paper is replicated using this improved PRS (N = 2335 adolescent twins and their genotyped parents). The association of children's attainment with their own PRS increased substantially with the standardized effect size, moving from ß = 0.134, 95% CI = 0.079, 0.188 for EA2, to ß = 0.223, 95% CI = 0.169, 0.278, p < .001, for EA3. Parent's PRS again predicted the socioeconomic status (SES) they provided to their offspring and increased from ß = 0.201, 95% CI = 0.147, 0.256 to ß = 0.286, 95% CI = 0.239, 0.333. Importantly, the PRS for alleles not transmitted to their offspring - therefore acting via the parenting environment - was increased in effect size from ß = 0.058, 95% CI = 0.003, 0.114 to ß = 0.067, 95% CI = 0.012, 0.122, p = .016. As previously found, this non-transmitted genetic effect was fully accounted for by parental SES. The findings reinforce the conclusion that genetic effects of parenting are substantial, explain approximately one-third the magnitude of an individual's own genetic inheritance and are mediated by parental socioeconomic competence.


Assuntos
Escolaridade , Estudo de Associação Genômica Ampla , Adolescente , Feminino , Humanos , Masculino , Fatores Socioeconômicos , Gêmeos
8.
Psychol Med ; : 1-9, 2018 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-30563581

RESUMO

BACKGROUND: Vulnerability to depression can be measured in different ways. We here examine how genetic risk factors are inter-related for lifetime major depression (MD), self-report current depressive symptoms and the personality trait Neuroticism. METHOD: We obtained data from three population-based adult twin samples (Virginia n = 4672, Australia #1 n = 3598 and Australia #2 n = 1878) to which we fitted a common factor model where risk for 'broadly defined depression' was indexed by (i) lifetime MD assessed at personal interview, (ii) depressive symptoms, and (iii) neuroticism. We examined the proportion of genetic risk for MD deriving from the common factor v. specific to MD in each sample and then analyzed them jointly. Structural equation modeling was conducted in Mx. RESULTS: The best fit models in all samples included additive genetic and unique environmental effects. The proportion of genetic effects unique to lifetime MD and not shared with the broad depression common factor in the three samples were estimated as 77, 61, and 65%, respectively. A cross-sample mega-analysis model fit well and estimated that 65% of the genetic risk for MD was unique. CONCLUSION: A large proportion of genetic risk factors for lifetime MD was not, in the samples studied, captured by a common factor for broadly defined depression utilizing MD and self-report measures of current depressive symptoms and Neuroticism. The genetic substrate for MD may reflect neurobiological processes underlying the episodic nature of its cognitive, motor and neurovegetative manifestations, which are not well indexed by current depressive symptom and neuroticism.

9.
J Pers Soc Psychol ; 2018 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-30047763

RESUMO

Mõttus and colleagues (2017) reported evidence that the unique variance in specific personality characteristics captured by single descriptive items often displayed trait-like properties of cross-rater agreement, rank-order stability, and heritability. They suggested that the personality hierarchy should be extended below facets to incorporate these specific characteristics, called personality nuances. The present study attempted to replicate these findings, employing data from 6,287 individuals from 6 countries (Australia, Canada, Czech Republic, Denmark, Japan, and United States). The same personality measure-240-item Revised NEO Personality Inventory-and statistical procedures were used. The present findings closely replicated the original results. When the original and current results were meta-analyzed, the unique variance of nearly all items (i.e., items' scores residualized for all broader personality traits) showed statistically significant cross-rater agreement (median = .12) and rank-order stability over an average of 12 years (median = .24), and the unique variance of the majority of items had a significant heritable component (median = .14). These 3 item properties were intercorrelated, suggesting that items systematically differed in the degree of reflecting valid unique variance. Also, associations of items' unique variance with age, gender, and body mass index (BMI) replicated across samples and tracked with the original findings. Moreover, associations between item residuals and BMI obtained from one group of people allowed for a significant incremental prediction of BMI in an independent sample. Overall, these findings reinforce the hypotheses that nuances constitute the building blocks of the personality trait hierarchy, their properties are robust and they can be useful. (PsycINFO Database Record

10.
PLoS One ; 13(7): e0200140, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30001359

RESUMO

BACKGROUND: Smokers tend to weigh less than never smokers, while successful quitting leads to an increase in body weight. Because smokers and non-smokers may differ in genetic and environmental family background, we analysed data from twin pairs in which the co-twins differed by their smoking behaviour to evaluate if the association between smoking and body mass index (BMI) remains after controlling for family background. METHODS AND FINDINGS: The international CODATwins database includes information on smoking and BMI measured between 1960 and 2012 from 156,593 twin individuals 18-69 years of age. Individual-based data (230,378 measurements) and data of smoking discordant twin pairs (altogether 30,014 pairwise measurements, 36% from monozygotic [MZ] pairs) were analysed with linear fixed-effects regression models by 10-year periods. In MZ pairs, the smoking co-twin had, on average, 0.57 kg/m2 lower BMI in men (95% confidence interval (CI): 0.49, 0.70) and 0.65 kg/m2 lower BMI in women (95% CI: 0.52, 0.79) than the never smoking co-twin. Former smokers had 0.70 kg/m2 higher BMI among men (95% CI: 0.63, 0.78) and 0.62 kg/m2 higher BMI among women (95% CI: 0.51, 0.73) than their currently smoking MZ co-twins. Little difference in BMI was observed when comparing former smoking co-twins with their never smoking MZ co-twins (0.13 kg/m2, 95% CI 0.04, 0.23 among men; -0.04 kg/m2, 95% CI -0.16, 0.09 among women). The associations were similar within dizygotic pairs and when analysing twins as individuals. The observed series of cross-sectional associations were independent of sex, age, and measurement decade. CONCLUSIONS: Smoking is associated with lower BMI and smoking cessation with higher BMI. However, the net effect of smoking and subsequent cessation on weight development appears to be minimal, i.e. never more than an average of 0.7 kg/m2.

11.
JAMA Psychiatry ; 75(9): 901-910, 2018 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-29936532

RESUMO

Importance: Urban life has been proposed as an environmental risk factor accounting for the increased prevalence of schizophrenia in urban areas. An alternative hypothesis is that individuals with increased genetic risk tend to live in urban/dense areas. Objective: To assess whether adults with higher genetic risk for schizophrenia have an increased probability to live in more populated areas than those with lower risk. Design, Setting, and Participants: Four large, cross-sectional samples of genotyped individuals of European ancestry older than 18 years with known addresses in Australia, the United Kingdom, and the Netherlands were included in the analysis. Data were based on the postcode of residence at the time of last contact with the participants. Community-based samples who took part in studies conducted by the Queensland Institute for Medical Research Berghofer Medical Research Institute (QIMR), UK Biobank (UKB), Netherlands Twin Register (NTR), or QSkin Sun and Health Study (QSKIN) were included. Genome-wide association analysis and mendelian randomization (MR) were included. The study was conducted between 2016 and 2018. Exposures: Polygenic risk scores for schizophrenia derived from genetic data (genetic risk is independently measured from the occurrence of the disease). Socioeconomic status of the area was included as a moderator in some of the models. Main Outcomes and Measures: Population density of the place of residence of the participants determined from census data. Remoteness and socioeconomic status of the area were also tested. Results: The QIMR participants (15 544; 10 197 [65.6%] women; mean [SD] age, 54.4 [13.2] years) living in more densely populated areas (people per square kilometer) had a higher genetic loading for schizophrenia (r2 = 0.12%; P = 5.69 × 10-5), a result that was replicated across all 3 other cohorts (UKB: 345 246; 187 469 [54.3%] women; age, 65.7 [8.0] years; NTR: 11 212; 6727 [60.0%] women; age, 48.6 [17.5] years; and QSKIN: 15 726; 8602 [54.7%] women; age, 57.0 [7.9] years). This genetic association could account for 1.7% (95% CI, 0.8%-3.2%) of the schizophrenia risk. Estimates from MR analyses performed in the UKB sample were significant (b = 0.049; P = 3.7 × 10-7 using GSMR), suggesting that the genetic liability to schizophrenia may have a causal association with the tendency to live in urbanized locations. Conclusions and Relevance: The results of this study appear to support the hypothesis that individuals with increased genetic risk tend to live in urban/dense areas and suggest the need to refine the social stress model for schizophrenia by including genetics as well as possible gene-environment interactions.

12.
An. psicol ; 34(2): 264-273, mayo 2018. tab
Artigo em Inglês | IBECS | ID: ibc-172797

RESUMO

The categorical approach of personality disorders (PD) has given way to a dimensional paradigm. Within this, the Five-factor model (FFM) proposes theoretical hypotheses describing personality pathologies and PD empirical prototypes based on the DSM (DSM-PD). Moreover, a methodology to score DSM-PD using the NEO PI-R facets was developed. In this ex post-facto study FFM-PD count norms were developed using data from the NEO PI-R Spanish adaptation. Furthermore, the diagnostic agreement with the IPDE and validity of FFM-PD counts was analyzed in a clinical (n = 222) and non-clinical sample (n = 742). Based on NEO PI-R scores, we presented Spanish FFM-PD normative data. FFMPD benchmarks were highly likely to be exceeded if subjects were classified as a subclinical case in the DSM-PD. Convergent correlations of FFM-PD counts with their equivalent subclinical cases of DSM-PD were statistically significant and outperformed any divergent correlation as well as the average divergent correlations in all FFM-PD. The use of a count technique based on NEO PI-R facets and Spanish FFM-PD normative data facilitate PD understanding and interpretation in various applied psychology fields


La concepción categórica de los trastornos de personalidad (TP) ha dado paso al paradigma dimensional, donde el modelo de los Cinco Factores (MCF) propone hipótesis teóricas para describir la patología de la personalidad y prototipos empíricos de los TP del DSM, además de técnicas para valorarlos en base a facetas del NEO PI-R. En este estudio ex post-facto se han elaborado baremos para el recuento de TP-MCF a partir de la adaptación española del NEO PI-R. Además, se ha comprobado la coherencia diagnóstica con IPDE y la validez de los recuentos de TP-MCF en una muestra clínica (n = 222) y otra no clínica (n = 742). A partir de las puntuaciones en NEO PI-R se elaboró el baremo español de los TP-MCF, cuyas cotas significativas son superadas con elevada probabilidad por casos subclínicos detectados con IPDE. Las correlaciones convergentes entre los recuentos de TP-MCF y los equivalentes casos de TP-DSM fueron estadísticamente significativas y superaron a cualquier correlación divergente y a la correlación divergente media en todos los TP-MCF. El recuento de facetas relevantes en TP-MCF y el baremo español resultante facilitan la comprensión e interpretación de los TP en distintos ámbitos de la psicología aplicada


Assuntos
Humanos , Transtornos da Personalidade/diagnóstico , Testes de Personalidade/estatística & dados numéricos , Psicometria/instrumentação , Teoria da Construção Pessoal , Determinação da Personalidade , Análise Estatística , Manual Diagnóstico e Estatístico de Transtornos Mentais
13.
Nat Genet ; 50(5): 668-681, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29700475

RESUMO

Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified 44 independent and significant loci. The genetic findings were associated with clinical features of major depression and implicated brain regions exhibiting anatomical differences in cases. Targets of antidepressant medications and genes involved in gene splicing were enriched for smaller association signal. We found important relationships of genetic risk for major depression with educational attainment, body mass, and schizophrenia: lower educational attainment and higher body mass were putatively causal, whereas major depression and schizophrenia reflected a partly shared biological etiology. All humans carry lesser or greater numbers of genetic risk factors for major depression. These findings help refine the basis of major depression and imply that a continuous measure of risk underlies the clinical phenotype.

14.
Gac. sanit. (Barc., Ed. impr.) ; 32(1): 92-95, ene.-feb. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-170159

RESUMO

Los diseños genéticamente informativos, y en particular los estudios de gemelos, constituyen la metodología más utilizada para analizar la contribución relativa de los factores genéticos y ambientales a la variabilidad interindividual. Básicamente, consisten en comparar el grado de similitud, con respecto a una característica o rasgo determinado, entre gemelos monocigóticos y dicigóticos. Además de la clásica estimación de heredabilidad, este tipo de registros permite una amplia variedad de análisis únicos por las características de la muestra. El Registro de Gemelos de Murcia es un registro de base poblacional centrado en el análisis de conductas relacionadas con la salud. Las prevalencias de problemas de salud observadas son comparables a las de otras muestras de referencia de ámbito regional y estatal, lo que avala su representatividad. En conjunto, sus características facilitan el desarrollo de diversas modalidades de investigación, además de diseños genéticamente informativos y la colaboración con distintas iniciativas y consorcios (AU)


Genetically informative designs and, in particular, twin studies, are the most widely used methodology to analyse the relative contribution of genetic and environmental factors to inter-individual variability. These studies basically compare the degree of phenotypical similarity between monozygotic and dizygotic twin pairs. In addition to the traditional estimate of heritability, this kind of registry enables a wide variety of analyses which are unique due to the characteristics of the sample. The Murcia Twin Registry is population-based and focused on the analysis of health-related behaviour. The observed prevalence of health problems is comparable to that of other regional and national reference samples, which guarantees its representativeness. Overall, the characteristics of the Registry facilitate developing various types of research as well as genetically informative designs, and collaboration with different initiatives and consortia (AU)


Assuntos
Humanos , Gêmeos/genética , Estudos em Gêmeos como Assunto/métodos , Registros/normas , Sistema de Registros/ética , Sistema de Registros/normas , Estudos em Gêmeos como Assunto/ética , Genética Médica/métodos , Genética Comportamental/ética , Genética Comportamental/métodos
15.
J Psychosom Res ; 105: 92-98, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29332639

RESUMO

BACKGROUND: People suffering from chronic pain are more likely to experience symptoms of depression and anxiety. However, the mechanisms underlying this relationship remain largely unknown. In light of the moderate to large effects of genetic factors on chronic pain and depression and anxiety, we aimed to estimate the relative contribution of genetic and environmental factors to the relationship between these traits. METHODS: Using data from 2139 participants in the Murcia Twin Registry, we employed a bivariate analysis and structural equation modeling to estimate the relative influences of genetics and the environment on the covariation between low back pain and symptoms of depression and anxiety. RESULTS: We have obtained heritability estimates of 0.26 (95% Confidence Interval (CI) 0.11, 0.41) for chronic low back pain and 0.45 (95% CI 0.29, 0.50) for symptoms of depression and anxiety. The phenotypic, genetic, and unique environment correlations in the bivariate analytical model were, respectively, rph=0.26 (95% CI 0.19, 0.33); rG=0.47 (95% CI 0.42, 0.70); rE=0.14 (95% CI -0.04, 0.25). The percentage of covariance between low back pain and symptoms of depression and anxiety attributable to additive genetic factors was 63.6%, and to unique environment 36.4%. CONCLUSIONS: Our findings confirm the relationship between low back pain and symptoms of depression and anxiety in a non-clinical sample. Shared genetic factors affect significantly the covariation between these conditions, supporting the role of common biological and physiological pathways.

16.
Gac Sanit ; 32(1): 92-95, 2018 Jan - Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-28284955

RESUMO

Genetically informative designs and, in particular, twin studies, are the most widely used methodology to analyse the relative contribution of genetic and environmental factors to inter-individual variability. These studies basically compare the degree of phenotypical similarity between monozygotic and dizygotic twin pairs. In addition to the traditional estimate of heritability, this kind of registry enables a wide variety of analyses which are unique due to the characteristics of the sample. The Murcia Twin Registry is population-based and focused on the analysis of health-related behaviour. The observed prevalence of health problems is comparable to that of other regional and national reference samples, which guarantees its representativeness. Overall, the characteristics of the Registry facilitate developing various types of research as well as genetically informative designs, and collaboration with different initiatives and consortia.


Assuntos
Interação Gene-Ambiente , Comportamentos Relacionados com a Saúde , Sistema de Registros , Gêmeos/estatística & dados numéricos , Doenças em Gêmeos/epidemiologia , Feminino , Genética Comportamental , Genética Médica , Humanos , Individualidade , Masculino , Prevalência , Projetos de Pesquisa , Espanha , Gêmeos/psicologia
17.
Behav Genet ; 48(1): 12-21, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28948422

RESUMO

Societal attitudes and norms to female smoking changed in Spain in the mid-twentieth century from a restrictive to a tolerant, and an even pro-smoking, posture, while social attitudes remained stable for males. We explored whether this difference in gender-related social norms influenced the heritability of two tobacco use measures: lifetime smoking and number of years smoking. We used a population-based sample of 2285 twins (mean age = 55.78; SD = 7.45; 58% females) whose adolescence began between the mid-1950s and the early 1980s. After modeling the effect of sex and year of birth on the variance components, we observed that the impact of the genetic and shared environmental factors varied differently by birth cohort between males and females. For females, shared environment explained a higher proportion of variance than the genetic factors in older cohorts. However, this situation was inverted in the younger female cohorts. In contrast, no birth cohort effect was observed for males, where the impact of the genetic and environmental factors remained constant throughout the study period. These results suggest that heritability is larger in a permissive social environment, whereas shared-environmental factors are more relevant in a society that is less tolerant to smoking.


Assuntos
Fumar Cigarros/genética , Interação Gene-Ambiente , Hereditariedade/genética , Meio Social , Adulto , Idoso , Atitude , Doenças em Gêmeos/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Mudança Social , Espanha , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
18.
Twin Res Hum Genet ; 20(6): 541-549, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29110752

RESUMO

Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (r MZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (r DZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings - for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.


Assuntos
Acne Vulgar/genética , Doenças em Gêmeos/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Acne Vulgar/epidemiologia , Acne Vulgar/fisiopatologia , Adolescente , Adulto , Austrália/epidemiologia , Criança , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/fisiopatologia , Feminino , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Sistema de Registros , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto Jovem
19.
Sci Rep ; 7(1): 15351, 2017 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-29127340

RESUMO

Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear. The aims of the present twin study were to: (i) assess the heritability of HCC; (ii) estimate the phenotypic and genetic correlation between HPA axis activity and the psychological variables perceived stress, depressive symptoms, and neuroticism; using formal genetic twin models and molecular genetic methods, i.e. polygenic risk scores (PRS). HCC was measured in 671 adolescents and young adults. These included 115 monozygotic and 183 dizygotic twin-pairs. For 432 subjects PRS scores for plasma cortisol, major depression, and neuroticism were calculated using data from large genome wide association studies. The twin model revealed a heritability for HCC of 72%. No significant phenotypic or genetic correlation was found between HCC and the three psychological variables of interest. PRS did not explain variance in HCC. The present data suggest that HCC is highly heritable. However, the data do not support a strong biological link between HCC and any of the investigated psychological variables.

20.
Am J Clin Nutr ; 106(2): 457-466, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28679550

RESUMO

Background: Genes and the environment contribute to variation in adult body mass index [BMI (in kg/m2)], but factors modifying these variance components are poorly understood.Objective: We analyzed genetic and environmental variation in BMI between men and women from young adulthood to old age from the 1940s to the 2000s and between cultural-geographic regions representing high (North America and Australia), moderate (Europe), and low (East Asia) prevalence of obesity.Design: We used genetic structural equation modeling to analyze BMI in twins ≥20 y of age from 40 cohorts representing 20 countries (140,379 complete twin pairs).Results: The heritability of BMI decreased from 0.77 (95% CI: 0.77, 0.78) and 0.75 (95% CI: 0.74, 0.75) in men and women 20-29 y of age to 0.57 (95% CI: 0.54, 0.60) and 0.59 (95% CI: 0.53, 0.65) in men 70-79 y of age and women 80 y of age, respectively. The relative influence of unique environmental factors correspondingly increased. Differences in the sets of genes affecting BMI in men and women increased from 20-29 to 60-69 y of age. Mean BMI and variances in BMI increased from the 1940s to the 2000s and were greatest in North America and Australia, followed by Europe and East Asia. However, heritability estimates were largely similar over measurement years and between regions. There was no evidence of environmental factors shared by co-twins affecting BMI.Conclusions: The heritability of BMI decreased and differences in the sets of genes affecting BMI in men and women increased from young adulthood to old age. The heritability of BMI was largely similar between cultural-geographic regions and measurement years, despite large differences in mean BMI and variances in BMI. Our results show a strong influence of genetic factors on BMI, especially in early adulthood, regardless of the obesity level in the population.


Assuntos
Índice de Massa Corporal , Peso Corporal/genética , Meio Ambiente , Interação Gene-Ambiente , Obesidade/genética , Característica Quantitativa Herdável , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Austrália , Cultura , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , América do Norte , Prevalência , Fatores Sexuais , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto Jovem
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