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Co-twin studies are an elegant and powerful design that allows controlling for the effect of confounding variables, including genetic and a range of environmental factors. There are several approaches to carry out this design. One of the methods commonly used, when contrasting continuous variables, is to calculate difference scores between members of a twin pair on two associated variables, in order to analyse the covariation of such differences. However, information regarding whether and how the different ways of estimating within-pair difference scores may impact the results is scant. This study aimed to compare the results obtained by different methods of data transformation when performing a co-twin study and test how the magnitude of the association changes using each of those approaches. Data was simulated using a direction of causation model and by fixing the effect size of causal path to low, medium, and high values. Within-pair difference scores were calculated as relative scores for diverse within-pair ordering conditions or absolute scores. Pearson's correlations using relative difference scores vary across the established scenarios (how twins were ordered within pairs) and these discrepancies become larger as the within-twin correlation increases. Absolute difference scores tended to produce the lowest correlation in every condition. Our results show that both using absolute difference scores or ordering twins within pairs, may produce an artificial decrease in the magnitude of the studied association, obscuring the ability to detect patterns compatible with causation, which could lead to discrepancies across studies and erroneous conclusions.
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There is a moderate association between poor sleep and psychological distress. There are marked sex differences in the prevalence of both variables, with females outnumbering males. However, the origin of these sex differences remains unclear. The objectives of this study were to: (1) study genetic and environmental influences on the relationship between poor sleep quality and psychological distress; and (2) test possible sex differences in this relationship. The sample comprised 3544 participants from the Murcia Twin Registry. Univariate and multivariate twin models were fitted to estimate the magnitude of genetic and environmental influences on both individual variance and covariance between poor sleep quality and psychological distress. Sleep quality and psychological distress were measured using the Pittsburgh Sleep Quality Index and the EuroQol five-dimensions questionnaire, respectively. The results reveal a strong genetic association between poor sleep quality and psychological distress, which accounts for 44% (95%CI: 27%-61%) of the association between these two variables. Substantial genetic (rA = 0.50; 95%CI: 0.32, 0.67) and non-shared environmental (rE = 0.41; 95%CI: 0.30, 0.52) correlations were also found, indicating a moderate overlap between genetic (and non-shared environmental) factors influencing both phenotypes. Equating sexes in sex-limitation models did not result in significant decreases in model fit. Despite the remarkable sex differences in the prevalence of both poor sleep quality and psychological distress, there were no sex differences in the genetic and environmental influences on these variables. This suggests that genetic factors play a similar role for men and women in explaining individual differences in both phenotypes and their relationship.
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Angústia Psicológica , Qualidade do Sono , Masculino , Feminino , Animais , Espanha/epidemiologia , Fenótipo , Caracteres Sexuais , Sono/genéticaRESUMO
The genetic and environmental underpinnings of sleep quality have been widely investigated. However, less is known about the etiology of the different sleep quality components and their associations. Subjective sleep quality has been studied most commonly using the Pittsburgh Sleep Quality Index (PSQI). Therefore, this work aimed to study the structure of sleep quality dimensions in a population-based twin sample by examining the etiology of the associations among the PSQI components themselves and between them. The sample comprised 2129 participants from the Murcia Twin Registry. In order to study the phenotypic, genetic and environmental structure of the PSQI we used three alternative multivariate twin models including all seven sub-scales of the PSQI (subjective sleep quality, latency, duration, efficiency, disturbances, use of sleeping medication and daytime dysfunction): a multivariate model (with seven separate correlated factors), a common pathway model and an independent pathway model. The multivariate correlated factors model showed the best fit to the data. All twin models indicated significant genetic overlap among most of the PSQI components, except daytime dysfunction and use of sleep medication. Bivariate heritability explained between 25 and 50% of the covariance for most associations between dimensions. Furthermore, the common pathway model showed that around one third of the variance (0.32; CI 95% 0.18.0.43) of a latent factor common to all questionnaire dimensions is explained by genetic factors. Genetic influences on a latent factor common to all questionnaire dimensions produced the same heritability estimates as the PSQI global score. However, sleep quality dimensions showed considerable specificity regarding its genetic-environmental structure.
Assuntos
Transtornos do Sono-Vigília , Humanos , Sono/genética , Qualidade do Sono , Transtornos do Sono-Vigília/genética , Inquéritos e Questionários , GêmeosRESUMO
BACKGROUND: Sleep apnea is one of the most common sleep disorders and it is related to multiple negative health consequences. Previous studies have shown that sleep apnea is influenced by genetic factors. However, studies have not investigated the genetic and environmental influences of symptoms of sleep apnea in young adults. Furthermore, the underpinnings of the relationship between apnea symptoms and internalizing/externalizing problems are unknown. The objectives of this study were to estimate the magnitude of: (1) genetic and environmental influences on self-reported apnea symptoms; (2) the relationship between self-reported apnea symptoms and internalizing/externalizing traits; (3) genetic and environmental influences on the associations between self-reported apnea symptoms, internalizing behaviors and externalizing behaviors. METHODS: In a twin/sibling study, univariate and multivariate models were fitted to estimate both individual variance and sources of covariance between symptoms of sleep apnea and internalizing/externalizing behaviors. RESULTS: Our results show that genetic influences account for 40% of the variance in sleep apnea symptoms. Moreover, there are modest associations between depression, anxiety and externalizing behaviors with apnea symptoms (ranging from r = 0.22-0.29). However, the origins of these associations differ. For example, whereas most of the covariation between symptoms of depression and sleep apnea can be explained by genes (95%), there was a larger role for the environment (53%) in the association between symptoms of anxiety and sleep apnea. CONCLUSIONS: Genetic factors explain a significant proportion of variance in symptoms of apnea and most of the covariance with depression.
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Comportamento Problema , Irmãos , Síndromes da Apneia do Sono/genética , Gêmeos/genética , Adolescente , Adulto , Ansiedade/genética , Depressão/genética , Doenças em Gêmeos/genética , Meio Ambiente , Feminino , Humanos , Masculino , Adulto JovemRESUMO
STUDY OBJECTIVES: Twin studies have provided data about the relative weight of genetic and environmental factors on sleep variables over the last few decades. However, heritability is a non-intuitive concept and it is often misunderstood even amongst the scientific community. This study aimed to analyze: (1) understanding of the meaning of heritability of insomnia; (2) the accuracy of estimations of heritability in the general population regarding three sleep traits (sleep duration, sleep quality and insomnia); (3) perceptions of the effectiveness of different treatments for insomnia depending on how the disorder is presented (i.e. having an environmental or genetic etiology) and whether the subject's estimate of genetic influence on sleep traits impacted beliefs about the effectiveness of different treatments. METHODS: Participants (N = 3658) completed a survey which included: questions about general genetic knowledge; a specific question about the meaning of heritability; estimates of heritability of three different sleep traits; and the effectiveness of different treatments for insomnia depending on how the etiology of this condition was presented. RESULTS: Fewer than 25% of the participants selected the correct description of the heritability of insomnia. Almost half of the sample incorrectly believed that heritability refers to the chance of passing a disorder onto their children. We also found that participants provided different estimates for the effectiveness of different treatments depending on the presumed etiology of the disorder. CONCLUSION: Most people do not have accurate knowledge about the concept of heritability. People's assumptions about the etiology of a disorder may influence which treatments they consider most effective.
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Conhecimentos, Atitudes e Prática em Saúde , Distúrbios do Início e da Manutenção do Sono/genética , Sono/genética , Adulto , Idoso , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Distúrbios do Início e da Manutenção do Sono/terapia , Inquéritos e QuestionáriosRESUMO
Comparing twins from same- and opposite-sex pairs can provide information on potential sex differences in a variety of outcomes, including socioeconomic-related outcomes such as educational attainment. It has been suggested that this design can be applied to examine the putative role of intrauterine exposure to testosterone for educational attainment, but the evidence is still disputed. Thus, we established an international database of twin data from 11 countries with 88,290 individual dizygotic twins born over 100 years and tested for differences between twins from same- and opposite-sex dizygotic pairs in educational attainment. Effect sizes with 95% confidence intervals (CI) were estimated by linear regression models after adjusting for birth year and twin study cohort. In contrast to the hypothesis, no difference was found in women (ß = -0.05 educational years, 95% CI -0.11, 0.02). However, men with a same-sex co-twin were slightly more educated than men having an opposite-sex co-twin (ß = 0.14 educational years, 95% CI 0.07, 0.21). No consistent differences in effect sizes were found between individual twin study cohorts representing Europe, the USA, and Australia or over the cohorts born during the 20th century, during which period the sex differences in education reversed favoring women in the latest birth cohorts. Further, no interaction was found with maternal or paternal education. Our results contradict the hypothesis that there would be differences in the intrauterine testosterone levels between same-sex and opposite-sex female twins affecting education. Our findings in men may point to social dynamics within same-sex twin pairs that may benefit men in their educational careers.
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Testosterona , Gêmeos Dizigóticos , Estudos de Coortes , Escolaridade , Feminino , Humanos , Masculino , Caracteres SexuaisRESUMO
Much progress has been made in twin research since our last special issue on twin registries (Hur, Y.-M., & Craig, J. M. (2013). Twin Research and Human Genetics, 16, 1-12.). This special issue provides an update on the state of twin family registries around the world. This issue includes 61 papers on twin family registries from 25 countries, of which 3 describe consortia based on collaborations of several twin family registries. The articles included in this issue discuss the establishment and maintenance of twin registries, recruitment strategies, methods of zygosity assessment, research aims and major findings from twin family cohorts, as well as other important topics related to twin studies. The papers amount to approximately 1.3 million monozygotic, dizygotic twins and higher order multiples and their family members who participate in twin studies around the world. Nine new twin family registries have been established across the world since our last issue, which demonstrates that twin registers are increasingly important in studies of the determinants and correlates of complex traits from disease susceptibility to healthy development.
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Pesquisa Biomédica , Doenças em Gêmeos/genética , Doenças em Gêmeos/patologia , Sistema de Registros/estatística & dados numéricos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Humanos , Estudos em Gêmeos como AssuntoRESUMO
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.
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Pesquisa Biomédica , Doenças em Gêmeos/epidemiologia , Comportamentos Relacionados com a Saúde , Qualidade de Vida , Sistema de Registros/estatística & dados numéricos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto , Doenças em Gêmeos/genética , Doenças em Gêmeos/psicologia , Feminino , Seguimentos , Promoção da Saúde , Humanos , Estilo de Vida , Estudos Longitudinais , Masculino , Espanha/epidemiologia , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: The aim of the study was to estimate the extent to which the co-occurrence of poor sleep quality and low back pain is due to the same genetic and/or environmental risk factors or due to a causal association. METHODS: Cross-sectional data on sleep quality (Pittsburgh Sleep Quality index) and low back pain were collected in a population-based sample of adult twins (N = 2134) registered with the Murcia Twin Registry. Bivariate analysis and structural equation modeling were used. RESULTS: The phenotypic correlation between sleep quality and low back pain was 0.23 (95% confidence interval [CI] = 0.17-0.28). The best-fitting bivariate model included additive genetic and unique environmental factors. Genetic factors accounted for 26% (95% CI = 10-40) and 34% (95% CI = 25-43) of the variability of low back pain and sleep quality, respectively. The correlation between the genetic factors underlying each trait was rG of 0.33 (95% CI = 0.03-0.66), and this overlap of genetic factors explained 42.5% of the phenotypic correlation. On the other hand, nonshared environmental factors of each variable were only fairly correlated rE of 0.19 (95% CI = 0.06-0.31), although this overlap explained 57.5% of the phenotypic correlation. In addition, twins in monozygotic pairs with poorer sleep quality presented more often with low back pain than their co-twins (ρ^ = 0.25, p < .0001). CONCLUSIONS: The data are compatible with a causal effect of sleep quality on low back pain (or the reverse effect), because the correlations between the genetic and unique environmental factors for each trait were significant and there was a significant correlation between the monozygotic twins' difference scores. Apart from environmental factors that affect both characteristics, there are many individual-specific events that influence low back pain but differ from those influencing sleep quality.
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Dor Lombar/etiologia , Sistema de Registros , Transtornos do Sono-Vigília/etiologia , Adulto , Idoso , Comorbidade , Estudos Transversais , Meio Ambiente , Feminino , Humanos , Dor Lombar/epidemiologia , Dor Lombar/genética , Masculino , Pessoa de Meia-Idade , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/genética , Espanha/epidemiologiaRESUMO
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.
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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/genéticaRESUMO
Twin registers are wonderful research resources for research applications in medical and behavioral genetics, epidemiology, psychology, molecular genetics, and other areas of research. New registers continue to be launched all over the world as researchers from different disciplines recognize the potential to boost and widen their research agenda. In this article, we discuss multiple aspects that need to be taken into account when initiating a register, from its preliminary sketch to its actual development. This encompasses aspects related to the strategic planning and key elements of research designs, promotion and management of a twin register, including recruitment and retaining of twins and family members of twins, phenotyping, database organization, and collaborations between registers. We also present information on questions unique to twin registers and twin-biobanks, such as the assessment of zygosity by SNP arrays, the design of (biomarker) studies involving related participants, and the analyses of clustered data. Altogether, we provide a number of basic guidelines and recommendations for reflection when planning a twin register.
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Comportamento , Genômica , Polimorfismo de Nucleotídeo Único , Sistema de Registros , Gêmeos , Biomarcadores , Feminino , Humanos , MasculinoRESUMO
There is a consistent relationship between body mass index and sleep quality. However, the directionality and possible confounding factors of this relationship are unclear. Our aim is to confirm the association between sleep quality and body mass index, independent of possible genetic confounding, as well as to provide some indirect inferences about the directionality of this association. The co-twin study design was used to analyse the body mass index-sleep relationship in a sample of 2150 twins. We selected two parallel sub-samples of twins discordant for body mass index (n = 430 pairs), or discordant for sleep quality (n = 316 pairs). Sleep quality and body mass index showed an inverse relationship (b = 0.056, P = 0.032) in the global sample. When twins discordant for body mass index were selected, this association maintained a similar effect size and statistical significance, at all levels of the case-control analysis (all discordant pairs b = 0.173, P < 0.001; dizygotic twins b = 0.174, P = 0.002; monozygotic twins b = 0.173, P = 0.050). Nevertheless, when twin pairs were selected on the basis of their discordance for sleep quality, the association between body mass index and sleep quality appeared weaker and lost significance (b = 0.021, P = 0.508). The analyses including only dizygotic (b = 0.028, P = 0.526) or monozygotic (b = 0.001, P = 0.984) pairs produced similar non-significant results. Our results confirm the relationship between sleep quality and body mass index, even after applying high levels of control, including genetic factors. Moreover, this study suggests a possible directionality of this relationship, such that sleep quality would strongly affect body mass index, while the opposite would be less robust and consistent in non-clinical samples.
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Índice de Massa Corporal , Sono/fisiologia , Gêmeos , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sono/genética , Gêmeos/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genéticaRESUMO
Nausea and vomiting during pregnancy (NVP) affects about 70 % of all expectant mothers and commonly impacts their physical health and psychosocial functioning. The aim of this study was to estimate the heritability of the presence, duration and severity of NVP. The sample consisted of 1723 women (M age = 41.78, SD = 11.67) including twins in both complete and incomplete pairs and their sisters from two cohorts participating in the NVP Genetics Consortium. The sample comprised 159 monozygotic and 140 dizygotic complete twin pairs, and 69 twin-sister pairs. We applied an extended twin design using OpenMx and Mx for secondary analysis. Individual differences in NVP were best explained by additive genetic and unique environmental effects. Heritability estimates were 73 % (95 % CIs = 57-84 %) for presence, 51 % (95 % CIs = 36-63 %) for duration and 53 % (95 % CIs = 38-65 %) for severity of NVP. The genetic correlation between duration and severity was almost perfect. Our results show that genes play an important role in different aspects of NVP and justify the importance of searching for genetic variants.
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Padrões de Herança/genética , Náusea/genética , Vômito/genética , Adulto , Idoso , Estudos de Coortes , Intervalos de Confiança , Demografia , Feminino , Finlândia , Humanos , Pessoa de Meia-Idade , Fenótipo , Gravidez , Espanha , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genéticaRESUMO
The Brazilian Twin Registry (BTR) was established in 2013 and has impelled twin research in South America. The main aim of the initiative was to create a resource that would be accessible to the Brazilian scientific community as well as international researchers interested in the investigation of the contribution of genetic and environmental factors in the development of common diseases, phenotypes, and human behavior traits. The BTR is a joint effort between academic and governmental institutions from Brazil and Australia. The collaboration includes the Federal University of Minas Gerais (UFMG) in Brazil, the University of Sydney and University of Melbourne in Australia, the Australian Twin Registry, as well as the research foundations CNPq and CAPES in Brazil. The BTR is a member of the International Network of Twin Registries. Recruitment strategies used to register twins have been through participation in a longitudinal study investigating genetic and environmental factors for low back pain occurrence, and from a variety of sources including media campaigns and social networking. Currently, 291 twins are registered in the BTR, with data on demographics, zygosity, anthropometrics, and health history having been collected from 151 twins using a standardized self-reported questionnaire. Future BTR plans include the registration of thousands of Brazilian twins identified from different sources and collaborate nationally and internationally with other research groups interested on twin studies.
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Doenças em Gêmeos/epidemiologia , Sistema de Registros , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto , Austrália , Brasil , Doenças em Gêmeos/genética , Feminino , Humanos , Estudos Longitudinais , Masculino , Inquéritos e QuestionáriosRESUMO
Poor sleep quality is highly prevalent in patients with low back pain (LBP) and is associated with high levels of pain, psychological distress, and physical disability. Studies have reported a bidirectional relationship between sleep problems and intensity of LBP. Accordingly, effective management of LBP should address sleep quality. In addition, genetics has been found to significantly affect the prevalence of both LBP and insomnia. Our study aims to establish the feasibility of a trial exploring the efficacy of a web-based sleep quality intervention in people with LBP, with the genetic influences being controlled for. 30 twins (15 complete pairs) with subacute or chronic LBP (>6 weeks) will be recruited from the Australian Twin Registry. Participants will be randomly assigned to one of the two groups with each twin within a pair receiving either an interactive web-based sleep intervention based on cognitive behavioral therapy principles (intervention) or a web-based education program (control) for 6 weeks. The feasibility of the trial will be investigated with regard to recruitment rate, feasibility of data collection and outcome measure completion, contamination of intervention, acceptability and experience of intervention, and sample size requirement for the full trial. Patient outcomes will be collected electronically at baseline, immediately post-treatment, and at 3-months' follow-up post-randomization. This trial employs a robust design that will effectively control for the influence of genetics on treatment effect. Additionally, this study addresses sleep quality, a significant but under-explored issue in LBP. Results will inform the design and implementation of the definitive trial.
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Dor Lombar , Sistema de Registros , Transtornos do Sono-Vigília , Sono/genética , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adolescente , Adulto , Idoso , Austrália , Feminino , Humanos , Dor Lombar/complicações , Dor Lombar/genética , Dor Lombar/fisiopatologia , Masculino , Pessoa de Meia-Idade , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/genética , Transtornos do Sono-Vigília/fisiopatologiaRESUMO
We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant. First-born twins had greater BMI than the second-born twins over childhood and adolescence. After adjusting the results for birth weight, birth order was still associated with BMI until 12 years of age. No interaction effect between birth order and zygosity was found. Only limited evidence was found that birth order influenced variances of height or BMI. The results were similar among boys and girls and also in MZ and DZ twins. Overall, the differences in height and BMI between first- and second-born twins were modest even in early childhood, while adjustment for birth weight reduced the birth order differences but did not remove them for BMI.
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Ordem de Nascimento , Estatura/genética , Índice de Massa Corporal , Gravidez de Gêmeos/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Gravidez , Gêmeos Dizigóticos , Gêmeos MonozigóticosRESUMO
PURPOSE: To investigate the relationship between different measures of obesity and chronic low back pain (LBP) using a within-pair twin case-control design that adjusts for genetics and early shared environment. METHODS: A cross-sectional association between lifetime prevalence of chronic LBP and different measures of obesity (body mass index-BMI; percent body fat; waist circumference; waist-hip ratio) was investigated in 1128 female twins in three stages: (i) total sample analysis; (ii) within-pair case-control analysis for monozygotic (MZ) and dizygotic (DZ) twins together; (iii) within-pair case-control analysis separated by DZ and MZ. Odds ratios (OR) and 95% confidence intervals (CI) were calculated. RESULTS: BMI (OR 1.12; 95% CI 1.02-1.26) and percent body fat (OR 1.15; 95% CI 1.01-1.32) were weakly associated with lifetime prevalence of chronic LBP in the total sample analysis but were absent when shared environment and genetic factors were adjusted for using the within-pair case-control analysis. Greater waist-hip ratios were associated with smaller prevalence estimates of chronic LBP in the within-pair case-control analysis with both MZ and DZ twins (OR 0.67; 95% CI 0.47-0.94). However, this association did not remain after the full adjustment for genetic factors in the MZ within-pair case-control analysis. CONCLUSIONS: BMI, percent of fat mass and greater depositions of fat and mass around the hips are associated with increases in chronic LBP prevalence in women but these associations are small and appear to be confounded by the effects of genetics and early shared environment. Therefore, our results do not support a causal direct relationship between obesity and chronic LBP.
Assuntos
Distribuição da Gordura Corporal , Dor Lombar/epidemiologia , Obesidade/epidemiologia , Tecido Adiposo , Índice de Massa Corporal , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Razão de Chances , Prevalência , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Relação Cintura-QuadrilRESUMO
Breastfeeding has been an important survival trait during human history, though it has long been recognized that individuals differ in their exact breastfeeding behavior. Here our aims were, first, to explore to what extent genetic and environmental influences contributed to the individual differences in breastfeeding behavior; second, to detect possible genetic variants related to breastfeeding; and lastly, to test if the genetic variants associated with breastfeeding have been previously found to be related with breast size. Data were collected from a large community-based cohort of Australian twins, with 3,364 women participating in the twin modelling analyses and 1,521 of them included in the genome-wide association study (GWAS). Monozygotic (MZ) twin correlations (r MZ = 0.52, 95% CI 0.46-0.57) were larger than dizygotic (DZ) twin correlations (r DZ = 0.35, 95% CI 0.25-0.43) and the best-fitting model was the one composed by additive genetics and unique environmental factors, explaining 53% and 47% of the variance in breastfeeding behavior, respectively. No breastfeeding-related genetic variants reached genome-wide significance. The polygenic risk score analyses showed no significant results, suggesting breast size does not influence breastfeeding. This study confers a replication of a previous one exploring the sources of variance of breastfeeding and, to our knowledge, is the first one to conduct a GWAS on breastfeeding and look at the overlap with variants for breast size.
Assuntos
Aleitamento Materno , Polimorfismo de Nucleotídeo Único , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Austrália , Aleitamento Materno/estatística & dados numéricos , Aleitamento Materno/tendências , Cromossomos Humanos/genética , Estudos de Coortes , Feminino , Estudo de Associação Genômica Ampla , Técnicas de Genotipagem , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , História Reprodutiva , Estudos Retrospectivos , Autorrelato , Inquéritos e Questionários , Gêmeos Dizigóticos/psicologia , Gêmeos Dizigóticos/estatística & dados numéricos , Gêmeos Monozigóticos/psicologia , Gêmeos Monozigóticos/estatística & dados numéricosRESUMO
Twin pairs discordant for disease may help elucidate the epigenetic mechanisms and causal environmental factors in disease development and progression. To obtain the numbers of pairs, especially monozygotic (MZ) twin pairs, necessary for in-depth studies while also allowing for replication, twin studies worldwide need to pool their resources. The Discordant Twin (DISCOTWIN) consortium was established for this goal. Here, we describe the DISCOTWIN Consortium and present an analysis of type 2 diabetes (T2D) data in nearly 35,000 twin pairs. Seven twin cohorts from Europe (Denmark, Finland, Norway, the Netherlands, Spain, Sweden, and the United Kingdom) and one from Australia investigated the rate of discordance for T2D in same-sex twin pairs aged 45 years and older. Data were available for 34,166 same-sex twin pairs, of which 13,970 were MZ, with T2D diagnosis based on self-reported diagnosis and medication use, fasting glucose and insulin measures, or medical records. The prevalence of T2D ranged from 2.6% to 12.3% across the cohorts depending on age, body mass index (BMI), and national diabetes prevalence. T2D discordance rate was lower for MZ (5.1%, range 2.9-11.2%) than for same-sex dizygotic (DZ) (8.0%, range 4.9-13.5%) pairs. Across DISCOTWIN, 720 discordant MZ pairs were identified. Except for the oldest of the Danish cohorts (mean age 79), heritability estimates based on contingency tables were moderate to high (0.47-0.77). From a meta-analysis of all data, the heritability was estimated at 72% (95% confidence interval 61-78%). This study demonstrated high T2D prevalence and high heritability for T2D liability across twin cohorts. Therefore, the number of discordant MZ pairs for T2D is limited. By combining national resources, the DISCOTWIN Consortium maximizes the number of discordant MZ pairs needed for in-depth genotyping, multi-omics, and phenotyping studies, which may provide unique insights into the pathways linking genes to the development of many diseases.
Assuntos
Diabetes Mellitus Tipo 2/genética , Doenças em Gêmeos/genética , Idoso , Austrália/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Doenças em Gêmeos/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Sistema de RegistrosRESUMO
For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.