scholarly journals The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits

2015 ◽  
Vol 18 (4) ◽  
pp. 348-360 ◽  
Author(s):  
Karri Silventoinen ◽  
Aline Jelenkovic ◽  
Reijo Sund ◽  
Chika Honda ◽  
Sari Aaltonen ◽  
...  
Keyword(s):  
Large Scale ◽  
Genetic Research ◽  
Twin Studies ◽  
Repeated Measurements ◽  
Human Populations ◽  
Birth Cohorts ◽  
Related Factors ◽  
Individual Level ◽  
Heritability Estimates ◽  
New Research

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.

Digital Mega-Studies as a New Research Paradigm: Governing the Health Research of the Future

2021 ◽  
pp. 155626462110414
Author(s):  
Jessica Bell ◽  
Megan Prictor ◽  
Lauren Davenport ◽  
Lynda O’Brien ◽  
Melissa Wake
Keyword(s):  
Large Scale ◽  
Group Processes ◽  
Research Paradigm ◽  
Multiple Sources ◽  
Individual Level ◽  
Key Characteristics ◽  
Governance Challenges ◽  
Technological Developments ◽  
Multi Stakeholder ◽  
New Research

‘Digital Mega-Studies’ are entirely or extensively digitised, longitudinal, population-scale initiatives, collecting, storing, and making available individual-level research data of different types and from multiple sources, shaped by technological developments and unforeseeable risks over time. The Australian ‘Gen V’ project exemplifies this new research paradigm. In 2019, we undertook a multidisciplinary, multi-stakeholder process to map Digital Mega-Studies’ key characteristics, legal and governance challenges and likely solutions. We conducted large and small group processes within a one-day symposium and directed online synthesis and group prioritisation over subsequent weeks. We present our methods (including elicitation, affinity mapping and prioritisation processes) and findings, proposing six priority governance principles across three areas—data, participation, trust—to support future high-quality, large-scale digital research in health.

scholarly journals The reliability and heritability of cortical folds and their genetic correlations across hemispheres

2019 ◽  
Author(s):  
Fabrizio Pizzagalli ◽  
Guillaume Auzias ◽  
Qifan Yang ◽  
Samuel R. Mathias ◽  
Joshua Faskowitz ◽  
...  
Keyword(s):  
Large Scale ◽  
Genetic Factors ◽  
Brain Mri ◽  
Genetic Correlations ◽  
Genetic Influences ◽  
Human Populations ◽  
Cortical Folding ◽  
Independent Family ◽  
Heritability Estimates

AbstractThe structure of the brain’s cortical folds varies considerably in human populations. Specific patterns of cortical variation arise with development and aging, and cortical traits are partially influenced by genetic factors. The degree to which genetic factors affect cortical folding patterning remains unknown, yet may be estimated with large-scale in-vivo brain MRI. Using multiple MRI datasets from around the world, we estimated the reliability and heritability of sulcal morphometric characteristics including length, depth, width, and surface area, for 61 sulci per hemisphere of the human brain. Reliability was assessed across four distinct test-retest datasets. We meta-analyzed the heritability across three independent family-based cohorts (N > 3,000), and one cohort of largely unrelated individuals (N~9,000) to examine the robustness of our findings. Reliability was high (interquartile range for ICC: 0.65−0.85) for sulcal metrics. Most sulcal measures were moderately to highly heritable (heritability estimates = 0.3−0.7). These genetic influences vary regionally, with the earlier forming sulci having higher heritability estimates. The central sulcus, the subcallosal and the collateral fissure were the most highly heritable regions. For some frontal and temporal sulci, left and right genetic influences did not completely overlap, suggesting some lateralization of genetic effects on the cortex.

scholarly journals The Danish Twin Registry: An Updated Overview

2019 ◽  
Vol 22 (6) ◽  
pp. 499-507 ◽  
Author(s):  
Dorthe Almind Pedersen ◽  
Lisbeth Aagaard Larsen ◽  
Marianne Nygaard ◽  
Jonas Mengel-From ◽  
Matt McGue ◽  
...  
Keyword(s):  
Biological Samples ◽  
Twin Studies ◽  
Molecular Data ◽  
Short Description ◽  
Repeated Measurements ◽  
Birth Cohorts ◽  
Twin Registry ◽  
Wide Range ◽  
The World ◽  
Danish Twin

AbstractThe Danish Twin Registry (DTR) was established in the 1950s, when twins born from 1870 to 1910 were ascertained, and has since been extended to include twins from birth cohorts until 2009. The DTR currently comprises of more than 175,000 twins from the 140 birth cohorts. This makes the DTR the oldest nationwide twin register and among the largest in the world. The combination of data from several surveys, including biological samples and repeated measurements on the same individuals, and data from Danish national registers provides a unique resource for a wide range of twin studies. This article provides an updated overview of the data in the DTR: First, we provide a summary of the establishment of the register, the different ascertainment methods and the twins included; then follows an overview of major surveys conducted in the DTR since 1994 and a description of the DTR biobank, including a description of the molecular data created so far; finally, a short description is given of the linkage to Danish national registers at Statistics Denmark and some recent examples of studies using the various data resources in the DTR are highlighted.

scholarly journals Education in Twins and Their Parents Across Birth Cohorts Over 100 years: An Individual-Level Pooled Analysis of 42-Twin Cohorts

2017 ◽  
Vol 20 (5) ◽  
pp. 395-405 ◽  
Author(s):  
Karri Silventoinen ◽  
Aline Jelenkovic ◽  
Antti Latvala ◽  
Reijo Sund ◽  
Yoshie Yokoyama ◽  
...  
Keyword(s):  
Parental Education ◽  
Twin Studies ◽  
Pooled Analysis ◽  
Linear Regression Models ◽  
Birth Cohorts ◽  
Individual Level ◽  
Paternal Education ◽  
Males And Females ◽  
Adult Twins ◽  
Mz Twins

Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990–1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.

No Evidence of Genetic Mediation in the Association Between Birthweight and Academic Performance in 2,413 Danish Adolescent Twin Pairs

2009 ◽  
Vol 12 (6) ◽  
pp. 564-572 ◽  
Author(s):  
Inge Petersen ◽  
Vibeke Myrup Jensen ◽  
Matt McGue ◽  
Paul Bingley ◽  
Kaare Christensen
Keyword(s):  
Academic Performance ◽  
Genetic Factors ◽  
Large Population ◽  
Twin Studies ◽  
Positive Association ◽  
Population Based ◽  
Birth Cohorts ◽  
Individual Level ◽  
Shed Light ◽  
Danish Twin

AbstractEvidence of a positive association between birthweight and IQ has been established in several studies. Analyses of within twin pair differences in birthweight and IQ have been used to shed light on the basis of the association. The strength of this approach is the possibility of controlling for both unmeasured common childhood–environmental factors as well as genetic factors shared by the co-twins. Two twin studies suggest the existence of genetic mediation between birthweight and IQ, that is, common genetic factors influence both fetal growth and IQ in childhood, while two other twin studies find no evidence of such mediation. In the present study we use a large population-based national register study of 2,413 Danish twin-pairs from birth cohorts 1986–1990, of which we have zygosity information on 74%. We perform individual level as well as intra-pair analyses of birthweight and school achievements at age 16. For both sexes we observed a monotonic increase in academic performance with increasing percentiles of birthweight. However, we did not find that this association is due to genetic mediation.

scholarly journals 519Innovative use of MedicineInsight GP database for applied research on antibiotic prescribing in Western Australia

2021 ◽  
Vol 50 (Supplement_1) ◽  
Author(s):  
Amy Harrison ◽  
Suzanne Robinson ◽  
Linda Selvey ◽  
Rachael Moorin ◽  
Mark Harris
Keyword(s):  
Broad Spectrum ◽  
Quantitative Research ◽  
Large Scale ◽  
Research Question ◽  
Antibiotic Prescribing ◽  
Collaborative Partnerships ◽  
Related Factors ◽  
Individual Level ◽  
Level Data ◽  
Processing And Storage

Abstract Focus of Presentation This project showcases the use of existing general practice (GP) datasets to gain access to large-scale data for epidemiological research. There is limited quantitative research on antibiotic prescribing in Australian GP. The research question involves identifying predictors of antibiotic prescribing not in accordance with national therapeutic guidelines for urinary tract infection (UTI) in Western Australian (WA) GP. This requires large-scale, individual-level data, which is difficult to access in Australia, and in this case could not be achieved without collaboration. Findings Longitudinal records from 52 practices in WA participating in MedicineInsight were analyzed. GP datasets present challenges regarding cleaning, processing and storage. Substantial broad-spectrum antibiotic prescribing was identified in initial episodes of UTI, particularly for children, and not supported by laboratory pathology. Children received broad-spectrum antibiotics 85% of the time, compared to 58% in women. Mixed-effects logistic regression was used to elucidate patient- and consultation-related factors associated with antibiotic prescribing outside of the guidelines. Conclusions/Implications There is evidence of antibiotic prescribing outside of the guidelines for initial presentations of UTI in WA GP. Whilst GP datasets provide insightful information on antibiotic prescribing, it is important to explore these findings with practising clinicians to further understand the drivers behind this behaviour, and this is the next stage of this research. Key messages Collaborative partnerships can facilitate access to rich, large-scale datasets capable of answering important research questions in Australian primary care.

Bullying, School Violence, and Climate in Evolving Contexts

2018 ◽  
Author(s):  
Ron Avi Astor ◽  
Rami Benbenisthty
Keyword(s):  
School Violence ◽  
School Safety ◽  
Media Coverage ◽  
Large Scale ◽  
Ecological Model ◽  
Empirical Studies ◽  
Practical Applications ◽  
Teacher Student ◽  
Area Of Interest ◽  
New Research

Since 2005, the bullying, school violence, and school safety literatures have expanded dramatically in content, disciplines, and empirical studies. However, with this massive expansion of research, there is also a surprising lack of theoretical and empirical direction to guide efforts on how to advance our basic science and practical applications of this growing scientific area of interest. Parallel to this surge in interest, cultural norms, media coverage, and policies to address school safety and bullying have evolved at a remarkably quick pace over the past 13 years. For example, behaviors and populations that just a decade ago were not included in the school violence, bullying, and school safety discourse are now accepted areas of inquiry. These include, for instance, cyberbullying, sexting, social media shaming, teacher–student and student–teacher bullying, sexual harassment and assault, homicide, and suicide. Populations in schools not previously explored, such as lesbian, gay, bisexual, transgender, and queer students and educators and military- and veteran-connected students, become the foci of new research, policies, and programs. As a result, all US states and most industrialized countries now have a complex quilt of new school safety and bullying legislation and policies. Large-scale research and intervention funding programs are often linked to these policies. This book suggests an empirically driven unifying model that brings together these previously distinct literatures. This book presents an ecological model of school violence, bullying, and safety in evolving contexts that integrates all we have learned in the 13 years, and suggests ways to move forward.

Where the Millennials Will Take Us

2018 ◽  
Author(s):  
Barbara J. Risman
Keyword(s):  
Young People ◽  
Life Stage ◽  
Structure Theory ◽  
Theoretical Argument ◽  
Individual Level ◽  
Gender Categories ◽  
The Individual ◽  
New Research ◽  
Fourth Wave

In this book Barbara J. Risman uses her gender structure theory to tackle the question about whether today’s young people, Millennials, are pushing forward the gender revolution or backing away from it. In the first part of the book, Risman revises her theoretical argument to differentiate more clearly between culture and material aspects of each level of gender as a social structure. She then uses previous research to explain that today’s young people spend years in a new life stage where they are emerging as adults. The new research presented here offers a typology of how today’s young people wrestle with gender during the years of emerging adulthood. How do they experience gender at the individual level? What are the expectations they face because of their sex? What are their ideological beliefs and organizational constraints based on their gender category? Risman suggests there is great variety within this generation. She identifies four strategies used by young people: true believers in gender difference, innovators who want to push boundaries in feminist directions, straddlers who are simply confused, and rebels who sometimes identify as genderqueer and reject gender categories all together. The final chapter offers a utopian vision that would ease the struggles of all these groups, a fourth wave of feminism that rejects the gender structure itself. Risman envisions a world where the sex ascribed at birth matters has few consequences beyond reproduction.

scholarly journals Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e132-e135
Author(s):  
Luke V. Rasmussen ◽  
Christin Hoell ◽  
Maureen E. Smith ◽  
Rex Chisholm ◽  
Justin Starren ◽  
...  
Keyword(s):  
Genetic Research ◽  
Lessons Learned ◽  
Return Of Results ◽  
Patient Portal ◽  
Test Results ◽  
Research Results ◽  
Genetic Test Results ◽  
Future Return ◽  
New Research ◽  
Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

scholarly journals Quantifying the effects of passenger-level heterogeneity on transit journey times

2020 ◽  
Vol 1 ◽  
Author(s):  
Ramandeep Singh ◽  
Daniel J. Graham ◽  
Richard J. Anderson
Keyword(s):  
Large Scale ◽  
Semiparametric Regression ◽  
Related Factors ◽  
Network Characteristics ◽  
Journey Time ◽  
Time Variance ◽  
Assignment Algorithm ◽  
Rail Systems ◽  
Urban Rail ◽  
Potential Applications

Abstract In this paper, we apply flexible data-driven analysis methods on large-scale mass transit data to identify areas for improvement in the engineering and operation of urban rail systems. Specifically, we use data from automated fare collection (AFC) and automated vehicle location (AVL) systems to obtain a more precise characterisation of the drivers of journey time variance on the London Underground, and thus an improved understanding of delay. Total journey times are decomposed via a probabilistic assignment algorithm, and semiparametric regression is undertaken to disentangle the effects of passenger-specific travel characteristics from network-related factors. For total journey times, we find that network characteristics, primarily train speeds and headways, represent the majority of journey time variance. However, within the typically twice as onerous access and egress time components, passenger-level heterogeneity is more influential. On average, we find that intra-passenger heterogeneity represents 6% and 19% of variance in access and egress times, respectively, and that inter-passenger effects have a similar or greater degree of influence than static network characteristics. The analysis shows that while network-specific characteristics are the primary drivers of journey time variance in absolute terms, a nontrivial proportion of passenger-perceived variance would be influenced by passenger-specific characteristics. The findings have potential applications related to improving the understanding of passenger movements within stations, for example, the analysis can be used to assess the relative way-finding complexity of stations, which can in turn guide transit operators in the targeting of potential interventions.

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