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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B4400 - Dysanapsis genetic risk and lung function across the lifespan - 24/08/2023

B number: 
B4400
Principal applicant name: 
Benjamin M. Smith | McGill University (Canada)
Co-applicants: 
Title of project: 
Dysanapsis genetic risk and lung function across the lifespan
Proposal summary: 

There is a lot of variability in lung structure among healthy adults. This variability in lung structure is thought to arise during growth - a concept that is referred to as “dysanapsis” (from the Greek, dys=unequal and anaptixy = growth). Dysanapsis is strongly associated with lung disease and death later in life, but the origins of dysanapsis are poorly understood. A recent genetic investigation identified several variants associated with dysanapsis, but when dysanapsis genetic risk manifests in childhood and whether it interacts with environmental or social factors to impair lung function is unknown. This study has two objectives: i) describe the relationship between dysanapsis genetic risk and lung function at various timepoints during lung growth; ii) test whether environmental exposures (environmental tobacco smoke) or social deprivation modify these relationships. No new measurements or samples are required for this study.

Impact of research: 
This study will advance our understanding of the early life origins of lung function impairment. Specifically, the contribution of dysanaptic lung growth to obstructive spirometry.
Date proposal received: 
Saturday, 19 August, 2023
Date proposal approved: 
Thursday, 24 August, 2023
Keywords: 
Epidemiology, Respiratory diseases - asthma, chronic obstructive pulmonary disease, Secondary data analysis using standard epidemiology / biostatistical techniques, Growth

B4394 - SLEEP AND YOUNG PEOPLES MENTAL HEALTH THE ROLE OF SOCIAL DETERMINANTS AND COGNITION - 22/08/2023

B number: 
B4394
Principal applicant name: 
Isabel Morales Munoz | School of Psychology, University of Birmingham (United Kingdom)
Co-applicants: 
Prof Andrew Bagshaw, Prof Nicole Tang, Prof Alice Gregory, Dr Nicola Adderley, Dr Joht Chandan, Lisa Artis, Vicki Beevers
Title of project: 
SLEEP AND YOUNG PEOPLE’S MENTAL HEALTH: THE ROLE OF SOCIAL DETERMINANTS AND COGNITION
Proposal summary: 

Sleep is vital for maintaining good mental health. Further, sleep and mental health problems are both public health concerns in their own right, with each having a substantive impact on both individuals and society. Adolescence and young adulthood are key periods in which to investigate mental health, as more than half of mental disorders start here. Similarly, sleep problems are often observed in young people. Further, it is crucial to understand under what circumstances and why sleep problems might lead to mental health problems, as this would shed some light on who are the young people most vulnerable for mental health problems. The proposed project will provide ground-breaking research on the prospective associations between sleep and mental health problems in young people using large longitudinal cohort studies, with a special emphasis on specific contributing and mediating factors of these associations. Among these, we will focus on social determinants (SD) (e.g., ethnicity, socio-economic status, housing conditions, food poverty) and cognitive factors as key aspects to consider in these associations in young people. To do this, we will use three population-based longitudinal cohort studies, which are the Avon Longitudinal Study of Parents and Children (ALSPAC) and the Millennium Cohort Study (MCS), both from the UK, and the Adolescent Brain Cognitive Development (ABCD), from the US. We will obtain detailed information on sleep (e.g., sleep duration, sleep fragmentation, sleep efficiency) using subjective (e.g., questionnaires) and objective (e.g., actigraphy) measures, mental health (e.g., anxiety, depression, psychosis, self-harm), cognitive factors (e.g., working memory, inhibition), and SD (e.g., ethnicity, living condition, early life adversities) in large sample sizes (e.g., >10,000 potential participants in each cohort).

Impact of research: 
Our project will help 1) Facilitate investigations of social impact on sleep and mental health; 2) Enable impactful patient-level and community-level interventions; 3) Facilitate efforts to address pervasive contextual challenges and inequities associated with poor sleep and poor mental health; and 4) Advance a more equitable society and health care system.
Date proposal received: 
Wednesday, 9 August, 2023
Date proposal approved: 
Tuesday, 22 August, 2023
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Sleep, social determinants, mental health, cognition, Statistical methods, Cohort studies - attrition, bias, participant engagement, ethics

B4396 - Heavy and painful menstrual periods and their impact on depressive symptoms across the lifecourse - 23/08/2023

B number: 
B4396
Principal applicant name: 
Gemma Sharp | University of Exeter
Co-applicants: 
Professor Abi Fraser, Professor Laura Howe
Title of project: 
Heavy and painful menstrual periods and their impact on depressive symptoms across the lifecourse
Proposal summary: 

Heavy menstrual bleeding (HMB) and menstrual pain (MP) can have a significant negative impact on financial, social, physical and mental wellbeing. Yet people often present late and their symptoms are dismissed. This study will reveal who is at risk of these problematic menstrual symptoms, when they are experienced throughout the lifecourse, and how they might affect depressive symptoms. The findings will inform the prediction of HMB and MP to ensure appropriate management, as well as new ways to predict, prevent, and treat adverse effects of these problematic menstrual symptoms on mental health.

Impact of research: 
We will provide robust evidence to inform new ways to predict HMB/MP and predict/prevent/treat adverse effects on depressive symptoms. This information can guide GPs and clinical psychologists, stratify patients by risk, and develop interventions for menstrual and mental health. Ultimately, this will help improve the health, wellbeing, and social, educational and workplace participation of people who menstruate, and reduce gender-based health and social inequalities.
Date proposal received: 
Monday, 14 August, 2023
Date proposal approved: 
Tuesday, 22 August, 2023
Keywords: 
Epidemiology, Menstrual health, GWAS, Genetic epidemiology, Genome wide association study, Mendelian randomisation, Mothers - maternal age, menopause, obstetrics, Methods - e.g. cross cohort analysis, data mining, mendelian randomisation, etc.

B4399 - Social determinants of health and psychotic experiences - 18/09/2023

B number: 
B4399
Principal applicant name: 
Hans Oh | University of Southern California (USA)
Co-applicants: 
Title of project: 
Social determinants of health and psychotic experiences
Proposal summary: 

This study aims to investigate longitudinal associations between social determinants of health with psychosis spectrum symptoms (e.g., hallucinations, delusions), as well as whether associations between psychosis spectrum symptoms with later diagnosable conditions can be modified through social determinants of health.

Impact of research: 
At the conclusion of the analyses, we will have delineated a portrait of risk and resilience factors associated with psychotic experiences among children and adolescents. This information will aid in the identification factors that may attenuate these experiences, inform preventive interventions, aid in understanding mechanisms underlying the development of worsening experiences, and identify ways to reduce health disparities.
Date proposal received: 
Thursday, 17 August, 2023
Date proposal approved: 
Monday, 21 August, 2023
Keywords: 
Epidemiology, Mental health, Mass spectrometry, Medical imaging, Statistical methods, Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Blood pressure, Childhood - childcare, childhood adversity, Environment - enviromental exposure, pollution, Psychology - personality, Physical - activity, fitness, function, Sleep, Social science

B4395 - Co-occurring socio-emotional difficulties combining development genetics and psychosocial risks - 22/08/2023

B number: 
B4395
Principal applicant name: 
Lydia Gabriela Speyer | Lancaster University (United Kingdom)
Co-applicants: 
Title of project: 
Co-occurring socio-emotional difficulties: combining development, genetics and psychosocial risks
Proposal summary: 

Approximately 10-20% of children and adolescents experience socio-emotional difficulties severe enough to merit a diagnosis of a mental health disorder. More than 40% of these youth develop at least one other mental illness throughout their life. A developmental perspective that investigates the interrelations between different domains of socio-emotional development from early life to adulthood can offer important insights into why socio-emotional difficulties commonly co-occur. Using state-of-the-art longitudinal statistical techniques, this project aims to significantly advance our understanding of the mechanisms underlying co-occurring socio-emotional difficulties. It will illuminate the roles of both genetics and psychosocial factors in linking different socio-emotional difficulties together using robust study designs that consider a range of confounders and providing the best available evidence yet on the causal mechanisms underlying the co-occurrence of socio-emotional difficulties. As well as informing preventions and interventions, this will contribute to better, more comprehensive theories of the developmental roots of mental health.

Impact of research: 
The findings from this project will offer important substantive insights into why socio-emotional difficulties commonly co-occur and thus help improve targeted early intervention strategies that have the potential to prevent the development of secondary mental health problems. Findings will further contribute to better, more comprehensive theories of the developmental roots of mental health, thus, laying the foundation for future, more clinically applied research. Additionally, analyses will involve extending current modeling approaches, improving the testing of developmental theories. These will be made publicly available to allow other researchers to apply these to their own research and thus help to advance scientific knowledge across disciplines. Findings will be disseminated through publications in international peer-reviewed journals and will be presented at national and international conferences.
Date proposal received: 
Monday, 14 August, 2023
Date proposal approved: 
Wednesday, 16 August, 2023
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Developmental disorders - autism, Mental health, Statistical methods, Childhood - childcare, childhood adversity, Cognition - cognitive function, Development, Genetic epidemiology, Mendelian randomisation, Methods - e.g. cross cohort analysis, data mining, mendelian randomisation, etc., Statistical methods

B4389 - Consortium Against Pain inEquality CAPE The impact of adverse childhood experiences on chronic pain responses to treatment - 21/08/2023

B number: 
B4389
Principal applicant name: 
Kate Timmins | University of Aberdeen
Co-applicants: 
Prof Gary Macfarlane
Title of project: 
Consortium Against Pain inEquality (CAPE): The impact of adverse childhood experiences on chronic pain & responses to treatment
Proposal summary: 

Having a traumatic experience as a child – for example, abuse or deprivation – can have a lifelong impact. People who report having several adverse childhood experiences, or ACEs, are more likely to have health problems later in life.

The Consortium Against Pain InEquality (CAPE) aims to further understand how ACEs might lead to chronic pain in adulthood. We want to consider how other factors (such as mental health or support from friends or family) contribute to pain vulnerability. Our main question is: Do ACEs cause an increased risk of chronic pain in later life, and, if so, what roles do other factors play?

Using existing data from several cohorts, of which the Avon Longitudinal Study of Parents and Children is one, we will run analyses to better understand the factors that may contribute to, or protect against, developing chronic pain, trying to describe the different ways ACEs (of different types, number and characteristics) may be linked to chronic pain (‘causal pathways’).

Impact of research: 
The outputs hope to confirm or elaborate on the causal relationship between ACEs and pain. A better understanding of mechanisms could enable the identification of opportunities where preventative efforts could be focused, as well as providing evidence to underpin the development of trauma-informed practices in pain diagnosis and management.
Date proposal received: 
Thursday, 3 August, 2023
Date proposal approved: 
Monday, 14 August, 2023
Keywords: 
Epidemiology, Pain, Childhood - childcare, childhood adversity

B4390 - Explore genetic epigenetic and metabolomic associations with longitudinal muscle strength physical fitness and mental health - 17/04/2024

B number: 
B4390
Principal applicant name: 
Yunfeng Huang | Biogen
Co-applicants: 
Dr. Ellen Tsai, Dr. Chia-Yen Chen, Denis Baird
Title of project: 
Explore genetic, epigenetic and metabolomic associations with longitudinal muscle strength, physical fitness and mental health
Proposal summary: 

Muscle strength and cognitive function are partially driven by genes inherited from parents. Reduction in muscle strength and cognitive function is associated with multiple adverse health outcomes including disability and mortality. Previous studies identified genes commonly associated with muscle strength and cognitive performance. However, impacts of genetic determinants of muscle strength and cognitive function on physical fitness and mental health longitudinally have not been fully studied mainly due to data unavailability. ALSPAC (Avon Longitudinal Study of Parents and Children) has collected physical fitness (hand grip strength, body DXA scan) and mental health (depression, anxiety, life events, etc.) data from mothers and children longitudinally, along with genetic data. Our aim is to leverage this dataset to better understand how genetic predispositions to muscle strength and cognitive performance contribute to physical fitness and mental health over time.

Reduction in physical fitness and motor function is associated with accelerated aging reflected by changes in DNA methylation, another heritable mark that can be modified by behavioral and environmental factors. Associations of DNA methylation with longitudinal physical fitness and mental health have not been fully understood. Using data from the ALSPAC, we plan to study the longitudinal association of physical fitness and mental health with DNA methylation throughout the genome. Furthermore, we plan to evaluate the biochemical effects of genes and/or DNA methylation marks associated with longitudinal physical fitness and mental health, by studying their associations with levels of different biochemicals (called ‘metabolites’) in child and mother’s blood samples using the metabolomics data in ALSPAC.

Impact of research: 
This research will help us better understand the genetic, epigenetic, and metabolomic associations with physical fitness, muscle strength and mental health from a longitudinal perspective. Reduction in physical fitness and cognitive function is associated with multiple adverse health outcomes and has a potential link with mental illnesses. A better grasp of underlying biological mechanisms through our proposed multi-omics approach can facilitate therapeutic development for age-associated diseases.
Date proposal received: 
Thursday, 3 August, 2023
Date proposal approved: 
Monday, 14 August, 2023
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Muscle weakness, physical fitness, mental illnesses, GWAS, Metabolomics, Statistical methods, Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Epigenetics, Genetic epidemiology, Genome wide association study, Metabolic - metabolism, Physical - activity, fitness, function

B4387 - Sweet child o mine a cohort-based study on adolescents body mass index and the introduction of duties on soft drinks - 21/08/2023

B number: 
B4387
Principal applicant name: 
Andrea Piano Mortari | University of Rome Tor Vergata (Italy)
Co-applicants: 
Ana Gonçalves Soares, PhD, Francesca Marazzi, PhD, Prof. Vincenzo Atella, Prof. Federico Belotti, Matilde Giaccherini, PhD
Title of project: 
Sweet child o' mine: a cohort-based study on adolescents’ body mass index and the introduction of duties on soft drinks
Proposal summary: 

Our project aims to analyse the health consequences of the soda duty introduced in Finland in 1994. In particular, we aim to analyse whether the duty caused a change in kids’ height, weight, BMI and probability of being overweight or obese. We study the effect on the health outcomes of Finnish kids using the 1986 Northern Finland Birth Cohort (NFBC1986 hereafter) and would like to use data of the ALSPAC participants for comparison, given that they were born in a similar period but were not subject to the tax.

Impact of research: 
We aim to inform policymakers about the (un)effectiveness in terms of health consequences of soda and sugar taxes. As a matter of fact, the few studies analysing the health effects of such measures, which are still widely used, often find a null effect on BMI and obesity reduction in children. We plan to disseminate the results at international conferences and in the LongITools and EHEN gatherings.
Date proposal received: 
Wednesday, 2 August, 2023
Date proposal approved: 
Monday, 14 August, 2023
Keywords: 
Health Economics, Obesity, Statistical methods, Econometric models, multivariate regressions, BMI, Environment - enviromental exposure, pollution, Mothers - maternal age, menopause, obstetrics, Social science, Policy evaluation

B4393 - Examining causal bidirectional relationships between mental health and urinary incontinence in women - 21/08/2023

B number: 
B4393
Principal applicant name: 
Kimberley Burrows | Bristol Medical School (PHS) (United Kingdom)
Co-applicants: 
Professor Carol Joinson, Ms Rochelle Knight
Title of project: 
Examining causal bidirectional relationships between mental health and urinary incontinence in women.
Proposal summary: 

Urinary incontinence (UI), defined as the complaint of any involuntary leakage of urine is a highly prevalent condition that can have adverse consequences for emotional well-being and quality of life in addition to being of economic importance to health services.
The cause of UI is not completely understood and includes psychological and physiological factors outside the lower urinary tract. The hypersensitivity of the bladder in urinary incontinence has guided researchers to consider psychological factors including anxiety and depression that may be of importance.
The comorbidity between UI and affective disorders including anxiety and depression is well established, but the precise nature of this relationship is unknown. Much of the existing research examining the relationship between UI and anxiety/depression is cross-sectional and is therefore unable to disentangle the temporal relationship between whether poor mental health is a cause or a consequence of UI.
The use of bidirectional MR can help to differentiate causality from correlation by testing the causal effects independently in each direction using single nucleotide polymorphisms (SNPs) found to be robustly associated with each trait in different genome-wide association studies (GWAS).  We will use GWAS summary statistics in a two-sample MR analysis to examine bidirectional causal relationships between anxiety/depression/neuroticism and UI in females. Two subtypes of UI will be explored. Stress urinary incontinence (SUI) is defined as a loss of urine associated with physical exertion, coughing or sneezing whilst urgency urinary incontinence (UUI) is loss of urine associated with a sudden compelling need (an urgency) to void.

Impact of research: 
If causal relationships (unidirectional or bidirectional) exist between anxiety/depression/neuroticism and UI, this could justify changes in the treatment of patients with incontinence and inform the development of new interventions.
Date proposal received: 
Tuesday, 8 August, 2023
Date proposal approved: 
Monday, 14 August, 2023
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Incontinence, Mental health, 2-sample MR, Mendelian randomisation

B4377 - Lifecourse MR Consortium - 11/08/2023

B number: 
B4377
Principal applicant name: 
Genevieve Leyden | Univeristy of Bristol (United Kingdom)
Co-applicants: 
Grace Power , Dr Eleanor Sanderson, Dr David Carslake, Dr Gibran Hemani, Professor George Davey Smith
Title of project: 
Lifecourse MR Consortium
Proposal summary: 

The aim of the Lifecourse-MR consortium is to collate data capturing life-stage specific exposures and investigate their effect on disease risk. As a contributing study in the consortium, GWAS summary statistics will be generated on the ALSPAC cohort for a variety of variables measured in early life and in adulthood. The data generated in this study will be used to help establish putative causal effects of life-stage specific exposures on health and disease.

Impact of research: 
The output of this research will faciliate statistical methods to evaluate genetic effects which vary with age, and help evaluate lifecourse specific effects on disease outcome.
Date proposal received: 
Monday, 7 August, 2023
Date proposal approved: 
Friday, 11 August, 2023
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Cancer, Diabetes, Hypertension, Obesity, Cardiovascular disease, GWAS, Statistical methods, Ageing, BMI, Cardiovascular, Genetic epidemiology, Mendelian randomisation, Statistical methods

B4361 - Young onset colorectal cancer and childhood exposures to the microbiome YOUTHCLUB - 18/08/2023

B number: 
B4361
Principal applicant name: 
Kaitlin Wade | Bristol Medical School, University of Bristol (United Kingdom)
Co-applicants: 
Title of project: 
Young onset colorectal cancer and childhood exposures to the microbiome (YOUTHCLUB)
Proposal summary: 

Colorectal cancer incidence in individuals younger than 50, referred to as early-onset colorectal cancer (eoCRC), has doubled in many countries. Over the next decade, deaths due to eoCRC are expected to rise globally, with eoCRC accounting for over 20% of all colorectal cancers and becoming the leading cause of cancer-related deaths in 20-49 year olds. However, the factors leading to this increase are uncertain. The gut microbiome, which comprises millions of bacteria, fungi and viruses that are housed naturally within our digestive system, may influence the development of colorectal cancer, whereby some microbiota play a role in inflammation, DNA damage and production of cancer-promoting molecules. Recent studies have shown that there are specific genetic mutations associated with colorectal cancer risk, which occur more often in people of younger ages than in older ages. These mutations are also caused by the toxin called colibactin, which is produced by certain gut microbial bacteria. Our study aims to understand whether these bacteria, if present in early life, cause these mutations within our DNA (via colibactin production) and therefore increase the risk of eoCRC.

Impact of research: 
The project is focused on unravelling the role of the childhood microbiome in the development of early-onset colorectal cancer (eoCRC). The proposal focuses on eoCRC because (i) the incidence and mortality due to eoCRC are rapidly raising, making this cancer type a leading cause of cancer-related deaths worldwide; (ii) the rise in eoCRC cases is not limited to any specific region or population, thus, making it a global health issue; (iii) there are no accurate diagnostic methods for detecting eoCRC and there are no effective intervention approaches for preventing eoCRC; (iv) prior work provides strong evidence supporting the role of the paediatric microbiome in eoCRC, which warrants multiple avenues of investigation; and (v) there is no similar evidence of the neonate microbiome being involved in any other type of human cancer. This project will therefore provide a novel global multi-omic resource for studying normal colorectal epithelium and eoCRC, comprehensive understanding of the role of early life microbiome-driven mutagenic and carcinogenic exposures in the development of eoCRC, an experimental map of the mutagenic and carcinogenic roles of the microbiome and an evaluation of the potential opportunities for intervention.
Date proposal received: 
Wednesday, 9 August, 2023
Date proposal approved: 
Thursday, 10 August, 2023
Keywords: 
Multi-disciplinary - bioinformatics, epidemiology (most relevant for the work being conducted with ALSPAC), mouse and organoid models, mathematical modelling and artificial intelligence., Cancer, Gastrointestinal, Cell culture, Computer simulations/modelling/algorithms, DNA sequencing, Statistical methods, Biological samples -e.g. blood, cell lines, saliva, etc., Childhood - childcare, childhood adversity, Genomics, Microbiome, Cancer

B4388 - IGF-1 levels and height trajectory in childhood an observational and Mendelian randomization study - 06/10/2023

B number: 
B4388
Principal applicant name: 
Despoina Manousaki | Research Center of the CHU Sainte-Justine (Canada)
Co-applicants: 
Benjamin De La Barrera, Basile Jumentier, PhD, Kaossarath Fagbemi, Raphael Avocegamou
Title of project: 
IGF-1 levels and height trajectory in childhood: an observational and Mendelian randomization study
Proposal summary: 

Insulin-like Growth Factor 1 (IGF-1) is a critical peptide hormone that plays a pivotal role in growth, development, and cellular regulation. It is primarily synthesized in the liver under the stimulation of growth hormone (GH) and acts as a key mediator of GH's growth-promoting effects. IGF-1 plays a fundamental role in various physiological processes, including cellular proliferation, differentiation, and tissue growth. Its actions are particularly prominent during the pre-adolescent and adolescent stages, where it influences longitudinal bone growth and overall somatic development.
The role of IGF-1 in growth regulation has garnered significant attention in the field of developmental biology. Previous research has demonstrated a positive correlation between circulating IGF-1 levels and height in various populations. Higher levels of IGF-1 have been associated with increased linear growth during childhood and adolescence. Randomized controlled trials of GH treatment in individuals with idiopathic short stature (ISS) , aiming to increase IGF-1 levels and final adult height have yielded conflicting results. Consequently, understanding the causal relationship between IGF-1 levels and height SDS across different ages can provide valuable insights into the mechanisms underlying growth and height variation.
In recent years, genetic studies have made significant strides in elucidating the genetic basis of complex traits, including height. Polygenic Risk Scores (PRS) are genetic risk scores that capture the cumulative effect of multiple genetic variants associated with complex traits, such as IGF-1 levels. As such, these PRS provide a comprehensive assessment of an individual's genetic predisposition to higher or lower IGF-1 levels. Also, using genetic variants from large IGF-1 genome-wide association study (Sinnott Armstrong et al, 2021) as instruments for IGF-1, we have generated preliminary results using Mendelian randomization, showing strong evidence of a causal effect of IGF1 on height. We are seeking to replicate these results by undertaking a one-sample Mendelian randomization study in ALSPAC
Body composition has been shown to influence growth patterns and height disparities among populations. Body Mass Index (BMI) has been suggested as a potential confounding factor in the IGF-1-height relationship. Investigating the relationship between a PRS for IGF-1 and height can help us better understand the contribution of IGF-1 to height variation and may reveal mediating effects of weight and potential gene-environment interactions affecting growth patterns.
This study aims to contribute to the growing body of evidence on the associations between IGF-1 levels, IGF-1 PRS, and height SDS, in ALSPAC. Understanding the impact of IGF-1 and of its genetic predictor on height variation at different ages, while accounting for BMI can offer valuable insights into the pathophysiology of growth.

Impact of research: 
Our study can explain whether IGF-1 levels have a causal effect on height at different stages in childhood and adolescence. This information can further support or refute the use of growth hormone in children idiopathic short stature.
Date proposal received: 
Thursday, 3 August, 2023
Date proposal approved: 
Thursday, 10 August, 2023
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Computer simulations/modelling/algorithms, DNA sequencing, GWAS, Qualitative study , GWAS, Mendelian randomisation

B4346 - Genomic methods to investigate the timing of childbirth in humans - 01/08/2023

B number: 
B4346
Principal applicant name: 
Bo Jacobsson | Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg
Co-applicants: 
Pol Sole-Navais, PhD, Julius Juodakis, PhD, Karin Ytterberg, Msc, Hedvig Sundelin, MsC, Ylva Folkesson
Title of project: 
Genomic methods to investigate the timing of childbirth in humans
Proposal summary: 

The duration of gestation is critical for neonatal survival, with early deliveries (<37 gestational weeks) being the leading cause of death in children under five years of age. Despite the global burden, relatively little is known about the processes that determine the timing of childbirth. In part, this limited progress is due to the difficulty in extrapolating findings from animal model systems to humans. However, studies of human genetic variation are starting to shed light on the biology of human labor and the timing of childbirth.

Recent work from our group and others has established robust genetic associations with the timing of childbirth. An easy solution for increasing the number of discovered genes is to increase sample size. However, additional gestational duration associated genes may be discovered from more complex models, in relatively small sample sizes. At the same time, the careful inspection of the known genes may aid in the overall understanding of the biology behind the timing of childbirth.

Impact of research: 
We believe our results will improve the biological understanding of the timing of childbirth, and potentially enable the development of therapeutic hypotheses to prevent preterm birth or as labor induction agents.
Date proposal received: 
Thursday, 13 July, 2023
Date proposal approved: 
Tuesday, 1 August, 2023
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Pregnancy - e.g. reproductive health, postnatal depression, birth outcomes, etc., Statistical methods, Birth outcomes, Genetic epidemiology, Genetics, Genome wide association study, Mothers - maternal age, menopause, obstetrics, Methods - e.g. cross cohort analysis, data mining, mendelian randomisation, etc., Offspring

B4383 - Variance in adult height explained by blood-based DNA methylation - 01/08/2023

B number: 
B4383
Principal applicant name: 
Paul Yousefi | MRC Integrative Epidemiology Unit, University of Bristol
Co-applicants: 
Matthew Suderman, Robert Hillary, Alesha Ann Hatton
Title of project: 
Variance in adult height explained by blood-based DNA methylation
Proposal summary: 

Height is a complex trait that is underscored by a combination of genetic and environmental factors. A large number of studies have defined the genetic basis of human height. Recent statistical genetics efforts have shown that ~40% of the variance in height can be explained by the combined additive effects of >10,000 individual variants. In this study, we will examine the utility of blood DNA methylation (DNAm) in capturing additional trait variance and in understanding the molecular architecture of height.

Impact of research: 
The primary academic beneficiaries of this project will be epidemiologists and biological scientists who will gain insight into the role of the epigenome and it's relationship the phenotypic architecture of height. Academics at all career stages, from PhD students to senior academics will have the opportunity to engage with and benefit from the research proposed.
Date proposal received: 
Wednesday, 26 July, 2023
Date proposal approved: 
Tuesday, 1 August, 2023
Keywords: 
Molecular genetics and genomics, Microarrays, Epigenetics

B4381 - The Effects of Pre- and Postnatal Exposure to Paternal Anxiety on their Offspring - 31/07/2023

B number: 
B4381
Principal applicant name: 
Peter J. Lawrence | University of Southampton (UK)
Co-applicants: 
Francesca Zecchinato, MSc, Jana Kreppner, Dr
Title of project: 
The Effects of Pre- and Postnatal Exposure to Paternal Anxiety on their Offspring
Proposal summary: 

Anxiety disorders (AD) are the most prevalent psychiatric condition in the general population worldwide, and it is estimated that between 6.57 and 13.54% of new fathers suffer from an AD (Leiferman et al., 2021), a considerably higher proportion than the prevalence for anxiety in men generally estimated by the World Health Organization (World Health Organization, 2017; range between 2.2 − 3.8%). The mental health of children is robustly associated with the mental health of their parents (Jami et al., 2021). In particular, children whose parents suffer from ADs, compared to children whose parents do not, have a higher risk of struggling with their mental health (e.g., Connell & Goodman, 2002; Micco et al., 2009; Lawrence et al., 2019). However, the specific role played by fathers in children's mental health difficulties has been under-investigated, and the particular risk posed by paternal anxiety for offspring mental health difficulties is not well understood.

Impact of research: 
This research will add to the existing literature on the father-specific contribution to the intergenerational transmission of psychopathology and will help disentangle direct (e.g., post-natal) from latent (e.g., pre-natal) effects of paternal anxiety on the development of their offspring.
Date proposal received: 
Tuesday, 25 July, 2023
Date proposal approved: 
Monday, 31 July, 2023
Keywords: 
Mental health - Psychology, Psychiatry, Cognition, Mental health, Statistical methods, Parenting

B4382 - Blood-based epigenome-wide analyses of chronic low-grade inflammation - 01/08/2023

B number: 
B4382
Principal applicant name: 
Paul Yousefi | MRC Integrative Epidemiology Unit, University of Bristol
Co-applicants: 
Matthew Suderman, Robert Hillary
Title of project: 
Blood-based epigenome-wide analyses of chronic low-grade inflammation
Proposal summary: 

Chronic inflammation is a hallmark of ageing and age-related disease states. The effectiveness of inflammatory proteins such as C-reactive protein (CRP) in assessing long-term inflammation is hindered by it's high within person variability. DNA methylation (DNAm) signatures of CRP may act as more reliable markers of chronic inflammation. This project will develop a series of DNAm predictors of CRP in the Generation Scotland Cohort and evaluate their performance in ALSPAC parents and children as well as several other UK based study populations.

Impact of research: 
The primary academic beneficiaries of this project will be epidemiologists and biological scientists who will gain insight into the role of the epigenome and it's relationship with chronic inflammation. Researchers in the field of chronic disease epidemiology will benefit from determining whether DNA methylation can provide a more stable surrogate of inflammation than a single CRP measure. Academics at all career stages, from PhD students to senior academics will have the opportunity to engage with and benefit from the research proposed.
Date proposal received: 
Wednesday, 26 July, 2023
Date proposal approved: 
Monday, 31 July, 2023
Keywords: 
Epidemiology, Inflammation , Microarrays, Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc.

B4384 - Innovating the collection of self-reported data with voice input - 04/08/2023

B number: 
B4384
Principal applicant name: 
Louise Millard | Department of Population Health Sciences, Bristol Medical School
Co-applicants: 
Title of project: 
Innovating the collection of self-reported data with voice input
Proposal summary: 

Cohorts like ALSPAC typically collect data on their participants over several years, but since data collection is usually both expensive and burdensome these data collection events tend to take place every few years, measuring or recording information at a particular instance in time e.g. via questionnaires or clinic visits. Hence, these data contain a limited amount of information on phenotypic variability across the life-course, and restricts the research questions that can be asked using these data. There is much more scope to exploit existing and emerging technologies to collect data ‘continuously’ over the longer term in cost-effective and less burdensome ways.

Digital health devices have been successfully used to collect data on specific traits over a number of days (e.g. physical activity measured with accelerometers), but these devices tend to each focus on particular traits such that collecting data in this way is expensive (having to buy specific devices to collect specific phenotypes), and many types of phenotypes do not lend themselves to this type of data collection, in particular, those that can only (currently) be collected via self-report. Recent advances in artificial intelligence and voice recognition technologies means it is now feasible to use voice-based systems to collect self-reported data continuously over several days or weeks in a less burdensome way. However, to date, voice-based data collection has not been exploited for collecting health data.

Impact of research: 
This project will demonstrate the value of using voice technologies to collect self-reported data intensively over a number of days in epidemiology cohort studies. It will also provide understanding on the acceptability and usability of this approach, and the accuracy of the collected data.
Date proposal received: 
Wednesday, 26 July, 2023
Date proposal approved: 
Monday, 31 July, 2023
Keywords: 
Statistics/methodology, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Statistical methods, Voice-based data collection on wearable devices, using systems like Amazon Alexa and the Google Assistant., Cohort studies - attrition, bias, participant engagement, ethics, Nutrition - breast feeding, diet, Social science

B4380 - Exploring bidirectionality and genetic confounding of the associations between excessive screen time and mental health in adoles - 31/07/2023

B number: 
B4380
Principal applicant name: 
Laura Howe | MRC Integrative Epidemiology Unit at the University of Bristol (United Kingdom)
Co-applicants: 
Jiayao Xu, Amanda Hughes, Annie Herbert, Marcus Munafo, Jessie Baldwin
Title of project: 
Exploring bidirectionality and genetic confounding of the associations between excessive screen time and mental health in adoles
Proposal summary: 

Digital technology has become an indispensable aspect of children's lives, providing unparalleled prospects for learning, entertainment, and social interaction. Nonetheless, the excessive and problematic utilization of digital devices has emerged as a prominent global concern. Based on the statement of the American Academy of Paediatrics (AAP), children aged two years or older were recommended to limit the amount of total entertainment screen time to no more than two hours. Excessive screen time may lead to harmful health outcomes among children and adolescents, including mental health problems.
However, whether the link between screen time and mental health is causal is questionable. There may be bidirectional associations, with poor mental health affecting screen time and vice versa. And associations may be affected by gene-environment correlations/genetic confounding.

Impact of research: 
Improved understanding of the causal relationship between screen time and mental health
Date proposal received: 
Thursday, 20 July, 2023
Date proposal approved: 
Monday, 24 July, 2023
Keywords: 
Epidemiology, Mental health

B4379 - Heatwaves wellbeing questionnaires to inform adaptation - 22/08/2023

B number: 
B4379
Principal applicant name: 
Eunice Lo | University of Bristol (United Kingdom)
Co-applicants: 
Title of project: 
Heatwaves wellbeing questionnaires to inform adaptation
Proposal summary: 

This is part of a work package is Eunice Lo's fellowship proposal to the Royal Society. It will investigate the wellbeing effect of heat on humans, because wellbeing is difficult to model due to a lack of long-term data.

Impact of research: 
Informing adaptation policies aimed to protect people's wellbeing during extreme episodes of heat.
Date proposal received: 
Monday, 17 July, 2023
Date proposal approved: 
Tuesday, 18 July, 2023
Keywords: 
Climate and health, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Statistical methods, Environment - enviromental exposure, pollution

B4378 - Developing and piloting heat wave questionnaires in ALSPAC - 08/08/2023

B number: 
B4378
Principal applicant name: 
Eunice Lo | Cabot Inst, UoB
Co-applicants: 
Professor Ulrika Maude, Nic Timpson, kate Northstone
Title of project: 
Developing and piloting heat wave questionnaires in ALSPAC
Proposal summary: 

Extreme heat (> 40°C heat) is becoming more and more commonplace in the UK meanging overheating in homes and buildings is a key risk. It is important to understand how this affects people’s physical and mental health, wellbeing and behaviour during heatwaves so that strategies can be developed to help people adapt.

Most research in the UK related to heat and health is focused on outdoor temperatures and population-scale health outcomes (e.g., mortality in South-West England) rather than people’s experiences and perceptions of heat, which varies between individuals and the buildings they live in.

We will fill these gaps by working with ALSPAC to develop and test a questionnaire that will ask participants about their experience and behaviour during a heatwave. The data collected from this plot will not be linked back to any ofther data but will help us to understand how heat might affect the health and wellbeing ofdifferent people, help to inform the development of early warnings and contribute to a fellowship application leading to more detailed research in ALSPAC.

Impact of research: 
Enable the development of early warnings and adaptation strategies in the event of heat waves. Novel research that will help to understand the lived experience of a population during a heat wave. TO our knowledge this has not been done to date.
Date proposal received: 
Sunday, 16 July, 2023
Date proposal approved: 
Tuesday, 18 July, 2023
Keywords: 
Epidemiology, Questionnaire development, Environment - enviromental exposure, pollution

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