Proposal summaries

These are research proposals that have been approved by the ALSPAC exec. The titles include a B number which identifies the proposal and the date on which the proposals received ALSPAC exec approval.

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B3119 - Exploring the association between parenting self-concept friendship and mental well-being in adolescents - 07/06/2018

B number: 
B3119
Principal applicant name: 
Anke Karl | University of Exeter (UK)
Co-applicants: 
Mengya Zhao, Professor Tamsin Ford
Title of project: 
Exploring the association between parenting, self-concept, friendship and mental well-being in adolescents
Proposal summary: 

Early adolescence is the period in which self-identity may be challenged or reconsolidated by puberty onset, increasing importance of peer relationships and increasing conflicts between parents and children. Obviously, parents and peer have direct impacts on children’s development (Bronfenbrenner, 1992) and it is important to take parenting and peer relations into account when investigating children self-identity development and psychological wellbeing.
Previous research has shown that parenting was positively related self-concept and involvement in peer relations (Dekovic & Meeus, 1997), and parenting and friendship quality had the longitudinal effect on internalizing symptoms in early adolescents (Gaertner, Fite, & Colder, 2010). Also, having a clear self-concept was positively associated with adolescents’ interpersonal relationships such as child-parent relationship and friendship quality (Becht et al., 2017) and mental well-being (e.g., Cross, Gore, & Morris). However, it is currently less well understood how parenting influence the trajectories of self-concept development, peer relations and mental well-being in adolescence and how parenting in early childhood and self-concept and peer relations in early adolescence together contribute mental well-being in late adolescence. Also, though parenting, self and social relationship are important to development, there is few evidences to show which stage, childhood or adolescence contributes more to child development.

Impact of research: 
Firstly, from the theory perspective, this research has the potential to help researchers to learn more about the trajectory of the children’s development and the association between parenting, self-concept, friendship, and mental wellbeing in different stages of adolescents. Secondly, from the practical perspective, given that early adolescence is regard at window of opportunity in the lifespan (Roeser & Pinela, 2014), this research can help researchers in education area to develop some training and exercises aiming to stablish stable and healthy self in early adolescence to assist adolescents to improve social abilities and emotion regulation. Also, this research aims to answer the question of which stage is more important to a child’s development. It is beneficial to help researchers to find the vital period for a child development and clarify what is important for a child’s development.
Date proposal received: 
Thursday, 7 June, 2018
Date proposal approved: 
Thursday, 24 May, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Mental health, Statistical methods, Parenting

B3115 - Gamechanger National Study of Cognition Using Digital Biomarkers - 24/05/2018

B number: 
B3115
Principal applicant name: 
Claire Lancaster | University of Oxford (Oxfordshire)
Co-applicants: 
Dr Chris Hinds
Title of project: 
Gamechanger: National Study of Cognition Using Digital Biomarkers
Proposal summary: 

In 2017, prevalence of Alzheimer’s Disease (AD) was close to 50 million individuals, with this number predicted to double in the next 20 years. Importantly, the neurodegenerative processes associated with AD precede diagnosis by more than a decade, offering a critical window for preventative treatments. An ongoing challenge is how to best identify individuals in the clinically ‘silent’ stage of this disease.

Smartphones offer a unique opportunity for detecting early cognitive (i.e. thinking) and behavioural change. Traditionally cognition is assessed using pen-and-paper tests completed within a 20-minute clinical appointment. Smartphones have the advantage of being able to measure cognition remotely and frequently over dynamic time frames; for example, memory can be tested over a duration of days rather than minutes. In addition, smartphone sensors enhance sensitivity by using touch, audio, video and movement sensors to measure behaviour. Mezurio, a smartphone application (app), has been developed in a collaboration between the University of Oxford and industry (Roche and Eli-Lilly pharmaceuticals). Intended to be freely available, Mezurio contains a selection of tasks specifically designed to measure the processes first sensitive to change in AD.

The GameChanger study, ran in collaboration with the UK Alzheimer’s Society, will establish the profile of performance on tasks contained within Mezurio across a wide demographic of the adult lifespan. By establishing what ‘healthy’ cognition looks like, future research will be able to more effectively use the app to detect individuals showing early signs of cognitive impairment. In addition, GameChanger is working in close collaboration with UK-based research projects (The Avon Longitudinal Study of Parents and Children (ALSPAC), Generation Scotland, The Exeter 10,000, NIHR BioResource and UK Biobank). Volunteers who have already provided data to an existing research project will be able to enhance the value of their GameChanger participation by allowing us to link the data collected by the two research projects. This will allow us to further explore how factors associated with how well we age cognitively, for example genetics (specifically which copies of the APOE gene a volunteer carriers), health and lifestyle, influence performance on the Mezurio app.

Invitation to participate in GameChanger is public; any adult with access to an Apple or Android smartphone will be able to download the Mezurio app onto their personal device. Mezurio will prompt participants to complete daily tasks for a few minutes each day, for a month. These tasks may ask participants to: a) Learn associations between photos and arrow directions, b) Make similarity/dissimilarity judgments on groups of objects, c) Follow rules to move through sequences, d) Narrate and retell short comic strips aloud, e) Navigate through virtual mazes, f) Crack sequences of simple codes. In addition, volunteers will be asked to rate their mood and sleep each day. As a further optional component of GameChanger, participants can allow the app to passively collect data on their physical activity (movement and approximate location) during a 7-day lifestyle assessment. Each September for the next 2 years, GameChanger will ask participants to repeat the month’s activity. This will allow us to study change in cognition over time.

Impact of research: 
Clinical trials for Alzheimer’s Disease are shifting in focus towards preventative treatments at the earliest disease stage, however, identifying individuals prior to symptom onset is an ongoing challenge limited by a reliance on existing pen-and-paper neuropsychological tools. Mezurio has been developed as part of a collaborative approach between academia and industry to create sensitive, digital behavioural paradigms to measure cognition longitudinally in a home environment. Long-term, this measure may be implemented and accepted by healthcare professionals as a means of recognising the first symptoms of disease, as well as aiding with recruitment to clinical trials. Establishing normative performance on this task in the GameChanger study, including how task performance varies across demographic groups, is a necessary step in establishing Mezurio as a prescreening tool. In addition, GameChanger provides valuable exploration of how risk factors (genetic, health, lifestyle) differentially impact cognition across the lifespan. Digital biomarkers provide a unique opportunity for administering sensitive behavioural paradigms at scale, advancing cohorts which have traditionally relied on brief in-clinic assessments at infrequent time intervals. By testing the feasibility of collecting longitudinal cognitive data in a general population, GameChanger will establish the utility of digital tools for studying cognition.
Date proposal received: 
Friday, 18 May, 2018
Date proposal approved: 
Saturday, 19 May, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Cognitive impairment, Digital phenotyping, Ageing, Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Cognition - cognitive function, Digital Health

B3112 - An investigation of the association between substance use in adolescence and mental health using linked data - 24/05/2018

B number: 
B3112
Principal applicant name: 
Alison Teyhan | ALSPAC, University of Bristol
Co-applicants: 
Prof. John Macleod, Rosie Cornish, Liam Mahedy
Title of project: 
An investigation of the association between substance use in adolescence and mental health using linked data
Proposal summary: 

Adolescence is a period of rapid biological and social change. The use of recreational substances, including alcohol, tobacco and cannabis, is widespread among adolescents. For some, adolescence and young adulthood are also the time when mental health difficulties emerge. This co-occurrence of substance use and mental health problems has attracted much research attention as to whether there is a causal link.

ALSPAC, like all longitudinal studies, suffers from attrition (over time, people drop out of the study) and non-response (those still engaged with the study may not complete every questionnaire, or every question within a questionnaire). If the likelihood of participating in ALSPAC is associated with substance use and mental health, analysis could lead to incorrect estimates of the association between them.

Linkage to administrative and health records is one approach to deal with attrition and non-response. In this proposed project, we plan to use data on mental health from participants' health records (e.g. GP records and hospital admissions) to investigate the association between self-reported substance use in adolescence and diagnosed mental health difficulties, particularly depression, anxiety and psychosis.

Impact of research: 
Findings will contribute to the currently limited evidence base in this area. Longer-term, more and better evidence will inform policy to improve mental health in young people.
Date proposal received: 
Wednesday, 9 May, 2018
Date proposal approved: 
Tuesday, 15 May, 2018
Keywords: 
Epidemiology, Mental health

B3107 - Mental health of young people who stutter - 29/05/2018

B number: 
B3107
Principal applicant name: 
Jan McAllister | University of East Anglia
Co-applicants: 
Dr Yvonne Wren, Dr Jane Skinner
Title of project: 
Mental health of young people who stutter
Proposal summary: 

It has long been believed that stuttering is associated with poor mental health. At one time it was thought that an anxious temperament was a cause of stuttering, but more recent evidence suggests that anxiety and other mental health difficulties are a result rather than a cause of stuttering; for example, children who stutter often experience negative attitudes and even bullying from other people, and such experiences can lead to mental health problems such as anxiety and poor self-esteem. Few studies have used community samples to look at the association between stuttering and mental health problems. ALSPAC is a particularly appropriate resource for exploring such questions, because unlike other similar studies, speech and language therapists checked for stuttering when the cohort members were 8 years old. In this study, we will look at whether and how mental health difficulties emerged in children who stuttered at 8 years as they grew into adolescents and adults. Since not all people who grow up with a stutter end up with serious mental health problems, we will also try to identify factors that are associated with positive mental health in people who stutter. We will also gather new data from the cohort members, to find out about stuttering in adulthood and its relationship to mental health. We will ask participants to complete a screen for common mental health problems and a separate measure of social anxiety, which is often elevated in people who stutter.

Impact of research: 
This work would have potential benefits for people who stutter, their families and third sector organisations that support them, and for professionals who work with them such as speech and language therapists and teachers. The findings could have important implications for the treatment of stuttering and could inform the commissioning of speech and language therapy services.
Date proposal received: 
Wednesday, 2 May, 2018
Date proposal approved: 
Tuesday, 8 May, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Speech/language problem, Statistical methods, Speech analysis, Communication (including non-verbal), Speech and language

B3105 - Neuro-developmental outcome after anaesthesia in early childhood an observational study using ALSPAC - 24/05/2018

B number: 
B3105
Principal applicant name: 
Graham Walkden | University of Bristol (United Kingdom)
Co-applicants: 
Dr Hannah Gill
Title of project: 
Neuro-developmental outcome after anaesthesia in early childhood: an observational study using ALSPAC
Proposal summary: 

All the commonly used drugs that produce general anaesthesia have been shown to increase brain cell death in young laboratory animals and lead to abnormal function later on. Mounting concern about the potentially toxic effects of anaesthetic drugs on the young brain has led to 76 studies since 1990 which have attempted to measure the brain development and functioning of humans who were given general anaesthetics for surgery or procedures in early childhood. Aspects of brain development which have been examined include measures of intelligence, movement and co-ordination, behaviour, language and speech, literacy and numeracy. Other measures have included academic achievement in school and diagnoses of learning disability, autism and attention deficit hyperactivity disorder (ADHD). Unfortunately, these human studies are frequently of limited quality, with: too few children (on average 130 cases), no method to account for other causes of adverse brain development which could bias the results, no information on the duration and type of general anaesthetic drugs given and not specifically designed to assess children's brain development. Their results are conflicting and somewhat difficult to interpret. At present, it remains uncertain whether anaesthetic drugs are harming young childrens' brains. The definitive results of a single clinical trial specifically designed to address this important question are not due for several years. In the meantime, the number of published review articles, commentaries, consensus statements and statements by regulatory bodies continues to grow. The United States Food and Drug Association urges careful consideration of the risks and benefits of a general anaesthetic in young children and pregnant women undergoing anaesthesia which may last longer than three hours or require multiple procedures.

Our project will determine whether there is evidence of impaired long-term brain development in ALSPAC data, specifically those children who had general anaesthetics for surgery or procedures before the age of four. We anticipate that the detailed information recorded about these children and their parents, as well as the quality of assessment of their brain development throughout childhood and adolescence, will allow us to better investigate this important issue than previous human studies have been able to do. We also propose to collect new information from childrens' medical records in order to describe the types and duration of general anaesthetics which were given in the early 1990s for different surgeries or unpleasant procedures. This will help us to determine whether increased duration of anaesthesia is associated with additionally worse brain development, and will allow us to place the findings of the ALSPAC study in context with changes to paediatric anaesthetic practice in the last two decades, as well as enhancing the utility of the ALSPAC resource to future anaesthetic research.

Impact of research: 
The outcome of our study, whether positive or negative, will be of significant international interest to the anaesthesia and child health communities and as such will be disseminated through publication and presentation on an international stage. The study will add a large, high quality finding to the building body of evidence into the neurotoxic effects of anaesthetic drugs in children. This work is timely and is likely to inform an escalating number of reviews and commentaries in the literature, as well as recommendations by clinical and regulatory bodies.
Date proposal received: 
Sunday, 29 April, 2018
Date proposal approved: 
Tuesday, 1 May, 2018
Keywords: 
Paediatric anaesthesia, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Developmental disorders - autism, Cognitive impairment, Learning difficulty, Pregnancy - e.g. reproductive health, postnatal depression, birth outcomes, etc., Speech/language problem, Computer simulations/modelling/algorithms, Statistical methods, Cohort studies - attrition, bias, participant engagement, ethics, Childhood - childcare, childhood adversity, Cognition - cognitive function, Communication (including non-verbal), Development, Intelligence - memory, Speech and language, Neurotoxicity, anaesthesia, paediatric anaesthesia, paediatric surgery

B3103 - Decsription of blood count data and associations of adiposity and insulin with blood counts - 08/05/2018

B number: 
B3103
Principal applicant name: 
Laura Howe | MRC IEU (United Kingdom)
Co-applicants: 
Lucy Goudswaard, Dr Inge Hers
Title of project: 
Decsription of blood count data, and associations of adiposity and insulin with blood counts
Proposal summary: 

People who are at an increased risk of thrombosis (clots) are often given antiplatelet drugs such as clopidogrel and prasugrel. These drugs work by reducing the activity of platelets, thereby reducing the risk of clots forming. It is understood that obese and diabetic people have more reactive platelets than healthy people. These subgroups of people therefore have an increased risk of having a heart attack or a stroke, even if they are taking these antiplatelet drugs. The processes that lead to this increased platelet reactivity in obese and patients with diabetes are unclear. This project aims to determine whether there is an association between BMI/insulin and increased platelet reactivity in young adults and to identify potential causes of this increased reactivity.

Impact of research: 
It is important to understand what causes the increased platelet reactivity in these subgroups of patients, and why some drugs are less effective at reducing this platelet activity. This understanding may reveal new targets which may be therapeutic in reducing thrombosis and heart attack/stroke risk.
Date proposal received: 
Wednesday, 25 April, 2018
Date proposal approved: 
Thursday, 26 April, 2018
Keywords: 
Physiology, Biological samples -e.g. blood, cell lines, saliva, etc.

B3101 - Association between the complexity of written language in childhood and adolescent mental health - 14/06/2018

B number: 
B3101
Principal applicant name: 
Sarah Sullivan | University of Bristol (UK)
Co-applicants: 
Dr Kate Northstone
Title of project: 
Association between the complexity of written language in childhood and adolescent mental health
Proposal summary: 

Concrete thought, expressed as concrete language, is a feature of psychotic illnesses. At present it is not known whether concrete language and thought precede the illness and are present at all points on the psychosis spectrum, from clinical disorder to psychotic experiences in the general populations. Previous work on ALSPAC data has investigated the association between parent report of child's language complexity and not found an association with later psychotic experiences. A collaborator from the Tokyo Teen Cohort has found an association between less complex written language in childhood and later psychotic experiences. It would be useful to investigate the same question in a language with a different structure from Japanese.

Impact of research: 
If there is an association between childhood language complexity and later mental health, this could provide the framework for development of an early and non-invasive risk assessment for later psychotic experiences
Date proposal received: 
Tuesday, 24 April, 2018
Date proposal approved: 
Wednesday, 25 April, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Speech/language problem, We will find out whether it is possible to code the samples for language complexity using Natural Language Processing, Speech and language

B3102 - Birth Cohorts and the Biosocial ethnographic interventions on the life course - 29/05/2018

B number: 
B3102
Principal applicant name: 
Sahra Gibbon | Anthropology Department UCL
Co-applicants: 
Title of project: 
Birth Cohorts and the Biosocial: ethnographic interventions on the 'life course'
Proposal summary: 

Studies that follow individuals across time, taking a ‘life course’ approach, are important for understanding how biological and social experiences interact to shape health. However while biological, epidemiological and quantitative social science approaches are often used, incorporating lived social realities into a ‘life course approach’ remains a neglected, yet vital resource for increasing knowledge about how health is shaped by biosocial processes. This 12 month pilot study will work with two high profile regional birth cohort studies in the UK and Brazil (ALSPAC and the Pelotas Birth Cohort) to explore how one in-depth method, ethnography, can be used to provide a richer understanding of social realities in life course approaches. It will focus on how ethnography can be used to examine a particular period in the life course, ‘motherhood’ and experiences of social adversity among birth cohort participants. Contributing innovatively to the development of a ‘mixed method’ approach the pilot study will be a first step in making ethnography an essential tool in biosocial life course research by widening a discussion between disciplines about how understanding lived social realities and experiences can be more productively linked to biology or epidemiology.

Impact of research: 
Outputs from the pilot study will include (a) free to download report from the final workshop including best practice suggestions for increasing the use of ethnography in longitudinal cohort studies (b) an article in Social Science and Medicine presenting the findings and discussing the theoretical/methodological opportunities in using ethnography in longitudinal birth cohort studies and developing ‘mixed methods’ approaches. The pilot study will lay the foundation for a larger comparative and cross disciplinary research initiative to further explore how the tool of ethnography can better integrated into life course approaches. The PI currently works with others developing ethnographic expertise with and/or about birth cohorts. This includes Liz Roberts (University of Michigan) who is combining ethnography with a birth cohort methodology; a planned workshop at the Brocher Foundation 2019 and a panel at the American Anthropological Association in 2018 on birth cohorts as a ‘technology’ of biosocial research. As the programme director of the MSc Biosocial Medical Anthropology, starting at UCL in 2018, and a board member of the ESRC ‘Socio-B’ DTC at UCL the PI is ideally placed to develop this project and a vision for more fully incorporating ethnographic research as part of a biosocial approach to the life course and longitudinal cohort studies. Students from both these programmes will be encouraged (as part of their dissertation and project work) to participate in data analysis and planned future research.
Date proposal received: 
Tuesday, 24 April, 2018
Date proposal approved: 
Wednesday, 25 April, 2018
Keywords: 
Anthropology, Qualitative study, Cohort studies - attrition, bias, participant engagement, ethics

B3100 - Peer victimisation during adolescence and its impact on wellbeing in early adulthood - 31/05/2018

B number: 
B3100
Principal applicant name: 
Claire Haworth | University of Bristol
Co-applicants: 
Jessica Armitage, Dr Lucy Bowes
Title of project: 
Peer victimisation during adolescence and its impact on wellbeing in early adulthood
Proposal summary: 

Understanding mental illness is a pressing area of research with the ultimate aim of helping individuals to remain mentally healthy across the life course. This study aims to explore factors that influence mental health and wellbeing by considering the role of bullying. Bullying by peers sometimes leads to later mental health problems. Our study will consider how bullying during adolescence can affect an individual’s mental health and wellbeing during adulthood. Wellbeing is a concept that encompasses positive states like happiness, optimism and life satisfaction. Helping to understand how wellbeing is affected by bullying will improve our understanding of how individuals can still flourish despite negative experiences.

Impact of research: 
The research is extremely timely due to the new data on wellbeing at age 23. This is a crucial life stage in which pressure to establish a family and career take place. Understanding ways in which individuals could flourish during this period could have a significant impact on their future mental health and wellbeing. Wellbeing also has significant implications for policy makers with nationwide surveys and the ‘What Works Centre for Wellbeing’ now in place to better inform decision-making and support communities, government and businesses in improving wellbeing. Thus, the present study aims to provide further support for the importance of wellbeing research and hopes to identify factors associated with wellbeing that need accounting for. If peer victimisation in adolescence is demonstrated to significantly implicate later wellbeing, experiences of peer victimisation should be considered when assessing an individual’s mental health and wellbeing. Additionally, targeting victimisation in schools could be an effective intervention to prevent poor outcomes and improve later wellbeing.
Date proposal received: 
Monday, 23 April, 2018
Date proposal approved: 
Tuesday, 24 April, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Mental health, Statistical methods, Childhood - childcare, childhood adversity, Development, Psychology - personality, Social science, Statistical methods

B3089 - Does childhood obesity hinder human capital development - 11/04/2018

B number: 
B3089
Principal applicant name: 
Laura Howe | MRC IEU
Co-applicants: 
Franco Sassi, Oliver Robinson, Paulo Vineis, Carmen Huerta
Title of project: 
Does childhood obesity hinder human capital development?
Proposal summary: 

The proposed project will address an important set of research questions on the social and economic impacts of childhood obesity by leveraging some of the most detailed longitudinal data sources available in the UK as well as innovative approaches to assessing causality and the links between health and social outcomes. It will do so with a view to making an impact on the actins of key stakeholders involved in addressing the problem. In particular, the study will rely on two national cohort studies reflecting the lives of individuals born in 1958 and 1970, and on a local cohort study of children born in 1991-92 providing a unique set of information based on biomarkers, anthropometric measures, linkages with rich administrative data, along with more traditional survey questions. The study will leverage biomarkers in the latter cohort and genetic information in all three cohorts in a detailed investigation of the causal pathways that link children early life exposures and background socioeconomic status to their likelihood of developing obesity in young age, to the social and economic outcomes associated with childhood obesity. In particular, the study will focus on dimensions of human capital (education and cognitive skills) and returns to human capital, in the form of employment and earnings, as well as forms of civic participation and social engagement.

Impact of research: 
This project aims at establishing evidence of causal impacts of childhood obesity on social and economic outcomes for the children concerned. This would significantly strengthen the case for action to tackle the current childhood obesity epidemic, because the long time frame in which the health impacts of childhood obesity typically materialise, and the relatively small (health) effect size of the interventions available to address obesity mean that a case for government action made purely on health grounds will provide weak support to interventions. Although most social and economic benefits from addressing childhood obesity (and generally poor health outcomes) accrue to the individuals concerned rather than the public purse or society at large, these benefits must be accounted for in order to capture the full welfare effects of interventions, particularly those arising from government policies aimed at improving population health. The effective tackling of childhood obesity and its social and economic consequences will improve the long-term sustainability of the NHS by containing the future demand for medical care, particularly in connection with early-onset chronic non-communicable diseases, and by protecting revenue inflows through a healthier a more productive workforce. Additional impacts of the research will derive from a more detailed knowledge than it is available at present of the pathways and mechanisms through which the social and economic impacts of childhood obesity are generated, which will give policy makers and other stakeholders the means to intervene more effectively in mitigating those impacts in obese children and their families. Mitigating actions may include interventions to prevent the occurrence of detrimental social and economic outcomes in obese children, or compensate then for such detrimental consequences through appropriate redistribution or welfare measures. While assessing the impacts of these actions is not within the scope of this project, the findings generated by the project will provide important inputs into any future assessments.
Date proposal received: 
Sunday, 25 March, 2018
Date proposal approved: 
Thursday, 29 March, 2018
Keywords: 
Health Economics, Obesity, Mendelian randomisation

B3085 - Replicating methylomewide findings from a developmental study of childhood trauma - 03/08/2018

B number: 
B3085
Principal applicant name: 
Edwin van den Oord | Virginia Commonwealth University
Co-applicants: 
William (Bill) Copeland, Karolina Aberg, Associate Director Center for Biomarker Research and Precision Medicine, Robin Chan, Elizabeth (Jane) Costello, Co-director Developmental Epidemiology Program
Title of project: 
Replicating methylomewide findings from a developmental study of childhood trauma
Proposal summary: 

By age 16, close to 2 children in 3 have suffered at least one adverse experience such as parental death, life-threatening illness, or family violence. Adversities have been robustly linked to psychiatric and other medical conditions where the consequences can persist far into adulthood. It is not well understood how early adverse experiences are biologically embedded and what processes might be set into effect that would sustain long term health risks. To address these key questions we performed a prospective, longitudinal methylome-wide association study (MWAS) of childhood adversity where data on adverse experiences was linked to methylation data on almost all 28 million common methylation sites in blood. Specifically, we used samples from the Great Smoky Mountains Study (GSMS). The GSMS started at Duke University about 25 years ago when participants were 9- to 13-year-old and continues today as the participants are in their 30s. The methylome was assayed using and optimized lab protocol for methyl-CG binding domain sequencing (MBD-seq).
Results showed that childhood adversity has a substantial impact on the methylome. These effects tended to increase with the number of adverse events and were predictive of future health outcomes. For example, using k-fold cross validation to obtain an unbiased estimate of the effects size, lifetime cumulative adversity exposure shared over 20% of its variation with the methylome. This adversity associated methylation variation in childhood (14.2 years of age) was a better predictor of depression symptoms in adulthood (25.8 years of age) then childhood depression symptoms themselves and this contribution remained significant after regressing out the cumulative adversity exposure count. Cell type specific MWAS suggested that most of the methylation changes involved the granulocyte cell subpopulation.
As a next step we propose to replicate findings in samples from the Avon Longitudinal Study of Children and Parents (ALSPAC). The ALSPAC study is critical for this purpose as, similar to GSMS, samples are available before and after adversity and where adversity induced changes can be linked to an array of health outcomes later in life. Furthermore, as ALSPAC is also a prospective, longitudinal it allows us to create a cumulative (life time) measure of exposure to adversity. As the vast majority of our top findings are not assayed by Illumina methylation array that cover only 450,000 sites (~2% of all common methylation sites in blood), we propose a targeted replication study using a protocol for amplicon sequencing of bisulfite converted DNA that we have already optimized and tested.
Successful completion of this project implies that we gained insight into how childhood adversities alters the methylome and what changes persist over time. We will also have identified processes associated with health risks in childhood/adulthood and found replicable methylation biomarkers associated with these risks. Methylation markers are stable and can be measured cost-effectively in blood, which is relatively easy to collect. Our findings therefore also have translational potential as, for example, diagnostic “biomarkers of health risk“.

Impact of research: 
Impact is likely very high. Childhood adversities have been robustly linked to psychiatric and other medical conditions where the consequences can persist far into adulthood. The GSMS MWAS studies showed that childhood adversity has a substantial impact on the methylome. For example, lifetime cumulative adversity exposure shared over 20% of its variation with the methylome and adversity associated methylation variation was found to make a strong and unique contribution to the prediction of health outcomes. Replication in ALSPAC will provide further insight into how childhood adversities alters the methylome. It will also help to more robustly identify processes associated with health risks in childhood/adulthood. Methylation markers are stable and can be measured cost-effectively in blood, which is relatively easy to collect. Study findings therefore also have translational potential as, for example, diagnostic “biomarkers of health risk“.
Date proposal received: 
Sunday, 18 March, 2018
Date proposal approved: 
Tuesday, 20 March, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Childhood adversity is associated with a broad array of health outcomes, Epigenomics, Biological samples -e.g. blood, cell lines, saliva, etc.

B3084 - The effect of preterm birth on later renal health - 05/04/2018

B number: 
B3084
Principal applicant name: 
Gavin Welsh | University of Bristol (United Kingdom)
Co-applicants: 
Miss Hayley Fryer
Title of project: 
The effect of preterm birth on later renal health
Proposal summary: 

As kidneys continue to develop up to 36 weeks of gestation, preterm infants are often born with reduced nephron numbers and consequently sub-optimal renal performance. Detailed research has been conducted examining kidney function in preterm neonates soon after birth, but few follow up these patients past infancy. Those that have measured renal performance in childhood and early adulthood have yielded varying conclusions. Further research exploring this topic is therefore required.
Serum creatinine and albumin are markers for kidney function. This study aims to compare the titres of these substances in individuals who were born prematurely and at term at various timepoints throughout their life.
As premature birth is becoming more common in the UK and worldwide, it is important to understand its possible implications on health later in life.

Impact of research: 
This study will hopefully provide evidence suggesting whether preterm infants have an increased risk of reduced kidney function over their lifetime. It may suggest whether proactive measures should be taken to minimise this risk.
Date proposal received: 
Wednesday, 21 March, 2018
Date proposal approved: 
Tuesday, 20 March, 2018
Keywords: 
Developmental biology, Kidney disease., Statistical methods, Birth outcomes

B3077 - EpiGenetics of Puberty and Risky Sexual Behavior - 27/03/2018

B number: 
B3077
Principal applicant name: 
Gabriel Schlomer | The University at Albany, SUNY (U.S.A.)
Co-applicants: 
Title of project: 
(Epi)Genetics of Puberty and Risky Sexual Behavior
Proposal summary: 

Pubertal development is a significant transitional process for adolescence as they move into reproductive maturity. This transition may also come with significant negative health and psychosocial consequences, however. Because early puberty has been linked to an array of health-related issues, factors that predict pubertal development differences among adolescents has been the focus of considerable research. One family factor that has been reliably linked to pubertal development, particularly girls' age at menarche (AAM), is father absence. Whether father absence causes differences in AAM is currently being debated by researchers. On one hand, some research suggests that father absence is an environmental influence that causally regulates AAM. On the other hand, some research suggests that the association is due to genetics: Genetic factors that might dispose a father to be absent are passed down to their daughters, which may dispose them to earlier AAM. This research is limited, however, in that both perspectives take a genes versus (or plus) environment approach, which overlooks how genes and environments operate together. The purpose of this proposal is to examine gene-environment interactions and epigenetic mechanisms of the relation between father absence, pubertal development, and related risky sexual behaviors in adolescent boys and girls.

Impact of research: 
This research has the potential to help elucidate how early environmental experiences in and around the family influence pubertal development. Discovering how social experiences become biologically imbedded has far reaching implications for intervention, both behavioral and pharmacological. References Day et al., (2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics, 49, 839-841. Ong, K. K., et al. (2009). Genetic variation in LIN28B is associated with the timing of puberty. Nature Genetics, 41, 729-733 Schlomer, G. L. & Cho, H. (2017). Genetic and environmental contributions to age at menarche: Interactive effects of father absence and LIN28B. Evolution and Human Behavior, 38, 761-769
Date proposal received: 
Wednesday, 28 February, 2018
Date proposal approved: 
Monday, 19 March, 2018
Keywords: 
Social Science, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Statistical methods, Development

B3079 - Exploration of associations between smoking topography and DNA methylation signatures - 04/04/2018

B number: 
B3079
Principal applicant name: 
Matthew Suderman | Integrative Epidemiology Unit (UK)
Co-applicants: 
Dr Glenda Lassi, Dr Caroline Relton, Dr Marcus Munafo
Title of project: 
Exploration of associations between smoking topography and DNA methylation signatures
Proposal summary: 

We have recently conducted a detailed study of smoking behaviour in young people, recording and measuring the number of cigarettes smoked, the number and duration of puffs taken, and the volume of smoke inhaled per puff/cigarette. We would now like to identify molecular markers of smoking behaviour in saliva. Although saliva cotinine levels accurately indicate recent nicotine intake, it does not capture long-term exposure or different smoking behaviours that are likely to impact on disease risk. DNA methylation is known to be an extremely stable and sensitive marker of smoking status that is predictive of smoking-related disease risk. It has also been used with some success to detect prenatal smoke exposure, own smoking pack-years and time since cessation. Several of our study participants are ALSPAC participants who recently provided saliva samples in the most recent ALSPAC clinic. We would like to use these samples to generate DNA methylation profiles in order to examine the extent to which detailed smoking behaviours are reflected in DNA methylation patterns.

Impact of research: 
We hope to better understand the biological mechanisms linked to specific smoking behaviours and the extent to which these behaviours impact the methylome.
Date proposal received: 
Wednesday, 7 March, 2018
Date proposal approved: 
Thursday, 8 March, 2018
Keywords: 
Molecular genetics and genomics, Addiction - e.g. alcohol, illicit drugs, smoking, gambling, etc., Microarrays, Statistical methods, Biological samples -e.g. blood, cell lines, saliva, etc., Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Epigenetics

B3074 - Exploration of functional links between sclerostin and phosphate metabolism - 17/07/2018

B number: 
B3074
Principal applicant name: 
Jon Tobias | University of Bristol (United Kingdom)
Co-applicants: 
Dr Jie Zheng, Dr Celia Gregson, Prof George Davey-Smith, Dr Ben Faber
Title of project: 
Exploration of functional links between sclerostin and phosphate metabolism
Proposal summary: 

The level of phosphate in the bloodstream is regulated by a number of hormonal factors including klotho. These are stimulated in conditions such as impaired kidney function, which causes a rise in circulating phosphate levels. It has recently been found that when kidney function is impaired, another protein, sclerostin, is also increased. Sclerostin, which has an important role in regulating the amount of bone formed, is the target for a new treatment being developed for osteoporosis, acting by blocking sclerostin activity. Combined with other circumstantial evidence, we propose that important functional relationships exist between the hormones that regulate phosphate levels and sclerostin, which contribute to the decline in bone density seen in renal impairment. This hypothesis will be examined by exploring relationships between klotho levels, measured as part of this proposal, and sclerostin, in a sample of ALSPAC mothers.

Impact of research: 
Characterising the relationship between klotho and sclerostin will help in understanding the pathogenesis of osteoporosis associated with CKD, leading to new opportunities for treatment. If sclerostin is found to be related to klotho levels, this may raise safety concerns over sclerostin antibody treatment being developed for osteoporosis, given the link between phosphate metabolism and vascular calcification.
Date proposal received: 
Wednesday, 7 March, 2018
Date proposal approved: 
Thursday, 8 March, 2018
Keywords: 
Physiology, Bone disorders - arthritis, osteoporosis, ELISA, Biological samples -e.g. blood, cell lines, saliva, etc.

B3076 - GlycA as a novel biomarker linking bacterial-mediated inflammation to adverse cardiometabolic/vascular traits in the young - 17/04/2018

B number: 
B3076
Principal applicant name: 
Scott Chiesa | UCL (United Kingdom)
Co-applicants: 
Professor John Deanfield, Professor Nic Timpson, Dr Marietta Charakida, Dr Justin Roberts, Dr. Georgios Georgiopoulos
Title of project: 
GlycA as a novel biomarker linking bacterial-mediated inflammation to adverse cardiometabolic/vascular traits in the young
Proposal summary: 

Inflammation is a temporary protective process activated by the body to fight infection. If this response remains active for too long, however, it may cause changes within the blood and arteries that increase the risk of cardiovascular disease. Some teenagers and young adults already show signs of these changes, but why this happens isn’t fully understood. As inflammation is known to be a response to infection, one explanation may be that it occurs in some people because they are more frequently exposed to illnesses/infections than others. Another explanation, however, may be that lifestyle choices that some people make (eating a poor diet, not exercising, becoming obese, etc) affect the ‘good bacteria’ that live within the gut, and that this triggers an inflammatory response from the body to try to protect itself. We aim to test whether bacterial-driven inflammation can cause changes in the blood and arteries that are often observed in people of this age. We also aim to test whether a newly discovered molecule (GlycA) is associated with these changes, and if having a high level of GlycA can therefore predict who is more likely to have cardiovascular problems 6-7 years in the future.

Impact of research: 
As recent evidence has suggested a cumulative impact of CV risk factors across the lifespan (with both the magnitude and duration of exposure contributing to the risk of future complications), an understanding of the pathways underlying early disease progression and the identification of age-specific biomarkers to accurately stratify risk is essential in order to guide lifetime management of CV risk and reduce the population burden of disease. This research proposal aims to investigate whether bacterial-mediated inflammation - either acutely via infection or chronically via an altered gut microbiota - contributes to early cardiometabolic and vascular dysfunction in young and otherwise healthy individuals. We also aim to test whether a novel inflammatory biomarker associated with anti-microbial effects is therefore a stronger predictor of future risk of cardiometabolic dysfunction/metabolic syndrome at this age than more commonly used inflammatory biomarkers such as CRP and IL-6.
Date proposal received: 
Monday, 26 February, 2018
Date proposal approved: 
Tuesday, 6 March, 2018
Keywords: 
Epidemiology, Diabetes, Gastrointestinal, Infection, Obesity, Metabolic Syndrome, CVD, Medical imaging, Metabolomics, ELISA, Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Cardiovascular, Metabolic - metabolism, Microbiome, Nutrition - breast feeding, diet

B3068 - To quantify age-related clonal hematopoiesis in pediatric-young adult samples - 25/07/2018

B number: 
B3068
Principal applicant name: 
WING HING WONG | Washington University in St. Louis (USA)
Co-applicants: 
Todd Druley (MD, PhD)
Title of project: 
To quantify age-related clonal hematopoiesis in pediatric-young adult samples
Proposal summary: 

The overall goal of this project is to quantify age-related clonal genetic diversity (clonal hematopoiesis) in the blood/marrow of healthy population from age 0 (birth) to age 30.

Impact of research: 
While the prevalence of age-related clonal hematopoiesis in individuals >50 years of age has been widely studied, the knowledge of clonal hematopoiesis in younger individuals is critically lacking. It is well known that the genes commonly mutated in adult AML (e.g. DNMT3A, TET2) are very rarely mutated in pediatric AML, suggesting that not only is the prevalence of clonal mutation different as a function of age, but also the genetic targets of clonal mutation. Such knowledge is critical as efforts to develop and implement precision therapeutics for a host of hematological diseases continue to expand. The background mutational profile is essential. This study would be the first to systematically examine the mutational spectrum using a high-resolution sequencing method with a limit of detection of 0.0001 in age-appropriate genes recurrently associated with AML in healthy children and young adults. Several studies in the past that utilized low-throughput methods found somatic mutations in genes such as JAK2 and TP53 in individuals without hematologic disease. Individuals with these mutations are associated with an increased risk of developing hematological and cardiovascular diseases in later in life. Once the background clonal hematopoiesis in healthy individuals is established and characterized, such profile can be used as a comparison point to hematological disease of genetic nature. For example, in some clinical cases involving hematopoietic stem cell transplantation (HCT), low frequency somatic mutations are present in healthy donors, which seemed to be under neutral selection in the donor’s body, but were subsequently implicated in the onset of secondary leukemia (with a reported incidence of 0.001) in the recipient as a result of clonal expansion, suggesting positive selection for putative pre-leukemic clones. Establishing the prevalence and the mutational spectrum of clonal hematopoiesis of blood and marrow donors would be crucial to understanding the clonal dynamics and selection of many rare donor clones in recipients post-HCT. In the subsequent follow-up study, we would identify somatic mutations that could be linked to the development of secondary hematologic complications (e.g. myelodysplasia, donor-derived leukemia, graft vs host disease) in recipients post-HCT, and with such data, we aim to better inform transplantation therapy in order to minimize the risk of secondary hematologic complications in the recipients.
Date proposal received: 
Thursday, 15 February, 2018
Date proposal approved: 
Thursday, 1 March, 2018
Keywords: 
Genetics, Cancer, DNA sequencing, Genomics

B3066 - Investigating the genetics of post-traumatic stress disorder associated with pregnancy and birth complications - 15/03/2018

B number: 
B3066
Principal applicant name: 
Lucia | QIMR Berghofer Medical Research Institute (Australia)
Co-applicants: 
Prof Sarah Medland, Prof Debbie Lawlor
Title of project: 
Investigating the genetics of post-traumatic stress disorder associated with pregnancy and birth complications
Proposal summary: 

Post-traumatic stress disorder (PTSD) can arise from pregnancy and birth complications. PTSD followed by pregnancy complications has received attention from large epidemiological studies. Previous epidemioloigcal studies report ~6% prevalence of perinatal PTSD. Although genetic factors confer vulnerability to PTSD, there are no studies analysing the genetic variants that confer vulnerability to PTSD after pregnancy complications. This project seeks to examine whether the genetic and non-genetic risk factors influencing PTSD arising from pregnancy related complications are shared with those influencing PTSD arising from violence and disaster events and from other psychiatric disorders.

Impact of research: 
PTSD followed by pregnancy complications has received attention from large epidemiological studies, with meta-analyses reporting demographic, medical and psychological risk factors. Although genetic factors confer vulnerability to PTSD, genetic studies have been limited and there are no studies analysing the genetic variants that confer vulnerability to PTSD after pregnancy complications. Identifying these factors will provide novel information for the design of differential intervention techniques for the prevention of perinatal PTSD.
Date proposal received: 
Thursday, 15 February, 2018
Date proposal approved: 
Thursday, 15 February, 2018
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Mental health, Pregnancy - e.g. reproductive health, postnatal depression, birth outcomes, etc., Post-traumatic stress disorder, GWAS, Statistical methods, Mothers - maternal age, menopause, obstetrics

B3051 - The role of a SLC30A2 variant modulating zinc homeostasis in childrens growth - 16/02/2018

B number: 
B3051
Principal applicant name: 
Cristian CARMELI | Institute of Social and Preventive Medicine, Lausanne University Hospital (Switzerland)
Co-applicants: 
Prof. Murielle Bochud, Mrs. Emilie Ha
Title of project: 
The role of a SLC30A2 variant modulating zinc homeostasis in children’s growth
Proposal summary: 
Date proposal received: 
Wednesday, 24 January, 2018
Date proposal approved: 
Thursday, 15 February, 2018
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Stunted growth in children, Statistical methods, Breast feeding, Genetic epidemiology

B3064 - Core Support for TwinsUK Cohort - 06/03/2018

B number: 
B3064
Principal applicant name: 
Timothy Spector | Kings College London
Co-applicants: 
Dr Deborah Hart, Andy Boyd, John Macleod, Prof Nic Timspon
Title of project: 
Core Support for TwinsUK Cohort
Proposal summary: 

This proposal does not seek access to ALSPAC data, rather it proposes uses a clone copy of some of ALSPAC data processes and infrastructure in order to support the TwinsUK cohort. The processes and infrastructure in question relate to ALSPACs Data Linkage activities and the PEARL Data Safe Haven - the ISO27001 certified policies, procedures, infrastructure for the capture, processing and subsequent analysis of linked 3rd Party routine records with study collected data. Equivalent TwinsUK research and study administration needs would be managed by the PEARL team. ALSPAC and TwinsUK data would remain distinct through this time.

Impact of research: 
Date proposal received: 
Wednesday, 21 February, 2018
Date proposal approved: 
Wednesday, 14 February, 2018
Keywords: 
Epidemiology, Record Linkage

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