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.

Click here to export results in Word format.

B1241 - Migraine GWAS meta-analysis - 16/09/2011

B number: 
B1241
Principal applicant name: 
Dr Aarno Palotie (Wellcome Trust Sanger Institute, London, UK)
Co-applicants: 
Prof George Davey Smith (University of Bristol, UK)
Title of project: 
Migraine GWAS meta-analysis.
Proposal summary: 

Aims: Migraine is the most common cause of chronic episodic severe headache, and affects 15% of the adult population with considerable burden to individuals and society. Although heritability is estimated to 50-60%, it was not until 2010 that the first genetic variant associated to the common forms of migraine was reported from a genome-wide association study (GWAS) of migraine with aura (Anttila et al, Nat. Genet., 2010). Since then one more GWAS of migraine has been published (Chasman et al, Nat. Genet., 2011), identifying three additional loci. Through this collaborative effort to perform a large-scale meta-analysis of GWAS data for migraine, our main aim is to detect (identify) the genetic mechanisms that underlie migraine. Specific aims include identifying common genetic variants that predispose to the development of migraine and its subtypes (migraine with aura, migraine without aura), as well as several follow-up analyses (see the attached analysis plan).

Hypotheses: We hypothesize that both common and low-frequency variants in the human genome contribute to the susceptibility for migraine, and that a high resolution meta-analysis of GWAS data can identify regions which contain sequence variants predisposing to the trait.

Exposure variables: Genetic variants as identified by GWAS genotyping.

Outcome variables: Presence of self-reported migraine (as identified by answers to questionnaire).

Date proposal received: 
Thursday, 15 September, 2011
Date proposal approved: 
Friday, 16 September, 2011
Keywords: 
GWAS, Neurology
Primary keyword: 

B1242 - Towards early intervention Does maternal behaviour mediate the independent association between antenatal depression and poor child emotional and behavioural outcomes - 15/09/2011

B number: 
B1242
Principal applicant name: 
Dr Rebecca Pearson (University of Bristol, UK)
Co-applicants: 
Dr Jonathan Evans (University of Bristol, UK), Dr Raghu Lingam (University of Bristol, UK), Dr Jon Heron (University of Bristol, UK), Prof Glyn Lewis (University of Bristol, UK)
Title of project: 
Towards early intervention: Does maternal behaviour mediate the independent association between antenatal depression and poor child emotional and behavioural outcomes?
Proposal summary: 

AIMS

The study aims to combine observed and maternal report data gathered as part of ALSPAC to investigate; The independent association between antenatal depression and multiple dimensions of maternal behaviour from 4 weeks to 5 years, whether this association mediates the independent impact of antenatal depression on later emotional/behavioural problems in the child.

Date proposal received: 
Thursday, 15 September, 2011
Date proposal approved: 
Thursday, 15 September, 2011
Keywords: 
Behavioural Problems, Mental Health
Primary keyword: 

B1240 - Reliability of parental recall of speech and language concerns in their child - 15/09/2011

B number: 
B1240
Principal applicant name: 
Ms Virginia Russell (University of Exeter, UK)
Co-applicants: 
Prof Jean Golding (University of Bristol, UK), Miss Laura Miller (University of Bristol, UK)
Title of project: 
Reliability of parental recall of speech and language concerns in their child.
Proposal summary: 

As delayed speech is one area where retrospective reports have been utilised, we seek to compare contemporaneous and retrospective parental accounts of concerns over speech difficulties in preschool children. Comparing original accounts of child behaviour to retrospective accounts is the most powerful design for examining the reliability of retrospective recall.

Hypothesis: That for a child treated with speech and language therapy, or an official intervention, a mother would be more likely to recall concerns from the early years, that had not been reported at the time. That if the child has not had S & L therapy or intervention, mothers will be more likely to 'forget' their initial concerns. In general, we expect that mother's recall will be systematically biased by such an intervention.

Method: Secondary analysis to cross compare contemporaneous reports about worries regarding speech development measured when the study children were age between 18 and 30 months, with retrospective reports concerning whether mothers had had worries about children's speech development when in their early years. The retrospectively recalled worries were reported ten years later. We will determine whether the children had ever had any speech therapy or educational intervention and see if this is correlated with accuracy of recall.

Independent variable:SEN provision and intervention (therapy) , Outcome:Difference between contemporaneous and rerospective recall.

Date proposal received: 
Thursday, 15 September, 2011
Date proposal approved: 
Thursday, 15 September, 2011
Keywords: 
Speech & Language
Primary keyword: 

B1239 - Association between parental ages and offspring DNA methylation levels - 08/09/2011

B number: 
B1239
Principal applicant name: 
Dr Mar?a Clara Restrepo-M?ndez (Universidade Federal de Pelotas, Brazil)
Co-applicants: 
Dr Caroline Relton (Newcastle University, UK), Prof George Davey Smith (University of Bristol, UK), Prof Debbie A Lawlor (University of Bristol, UK), Prof Bernado Lessa Horta (Federal University of Pelotas, Europe), Prof Cesa Victora (Federal University of Pelotas, Europe)
Title of project: 
Association between parental ages and offspring DNA methylation levels.
Proposal summary: 

Some findings suggest that offspring of older parents are at an increased risk of various disorders, such as cancer, diabetes type 1, obsessive-compulsive disorder, autism, schizophrenia, and bipolar disorder. The role of epigenetics in these associations is beginning to be explored. The most robust and readily measured epigenetic modification is DNA methylation, which is a normal and mitotically heritable change that regulates gene activity in the absence of underlying changes to DNA sequences. Epigenetic analysis may provide new insights into the mechanisms through which genetic and environmental factors jointly contribute to shape risk profiles. Exploiting differences in levels of DNA methylation and also genetic variants correlated with methylation levels according to parental age might contribute to our understanding of the extent to which associations between parental age and offspring health-related outcomes are explained by socioeconomic or biological factors. Aims and objectives: The overall aim is to examine the association of parental age with offspring DNA methylation levels. Specific objectives are: 1.) Examine the association of maternal and paternal age with offspring DNA methylation patterns. 2.) Compare the association of maternal age and offspring DNA methylation with that of paternal age with offspring DNA methylation. 3.) Examine genetic variation around any methylated sites that are related to parental age to identify genetic variation that might be causally related to that methylation. 4.) If associations are found between maternal / paternal age with offspring DNA methylation we would then explore whether this mediates associations with adverse offspring health outcomes; this would involve standard association analyses methods and also (if possible) genetical genomics approaches.

Date proposal received: 
Thursday, 8 September, 2011
Date proposal approved: 
Thursday, 8 September, 2011
Keywords: 
Epigenetics , Parental age, Maternal Age
Primary keyword: 

B1238 - A candidate gene approach for identifying genetic factors associated with height growth velocity in children - 08/09/2011

B number: 
B1238
Principal applicant name: 
Prof YY Teo (National University of Singapore, Singapore)
Co-applicants: 
Prof Yung-Seng Lee (National University of Singapore, Singapore), Dr Mary Chong (National University of Singapore, Singapore)
Title of project: 
A candidate gene approach for identifying genetic factors associated with height growth velocity in children.
Proposal summary: 

Our primary GWAS study, titled the Singapore Cohort Study of the Risk Factors of Myopia (SCORM), is an extension of the longitudinal survey of 2,000 children that were recruited from the age of 7 years old, and followed up annually until they reached 12 years old. The GWAS data along with longitudinal data on height and weight allow us to investigate the genetic etiology of growth characteristics. By investigating the rate of change of height across these 6 years, or the height growth gradient, we have identified several polymorphisms in growth related candidate genes with suggestive evidence (that beyond multiple testing) that are associated with height gradient.

Aim: To investigate the genetic etiology of height growth, which we believe will be partly or wholly distinct from the genetic etiology of height.

Hypothesis: Candidate genes for growth and appetite/hunger regulation may be associated with childhood growth characteristics.

Exposure variable: Genotypes from SNPs located in the candidate genes for growth and appetite/hunger regulation, after including a buffer region of 10kb on either flanks of each gene.

Outcome variable: Height growth, defined as the gradient of the regression line explaining height (y-axis) and age (x-axis).

Confounding variable: Gender of the child.

Date proposal received: 
Thursday, 8 September, 2011
Date proposal approved: 
Thursday, 8 September, 2011
Keywords: 
Genetics, Height
Primary keyword: 

B1248 - High Bone Mass Study - 01/09/2011

B number: 
B1248
Principal applicant name: 
Dr Jon Tobias (University of Bristol, UK)
Co-applicants: 
Title of project: 
High Bone Mass Study
Proposal summary: 

No outline provided as this is not a full proposal (just a request to use our facilities which has been approved).

Date proposal received: 
Thursday, 1 September, 2011
Date proposal approved: 
Thursday, 1 September, 2011
Keywords: 
Bones
Primary keyword: 

B1237 - Consortium of Adolescents Studies for the Genetics of Smoking and Nicotine Dependence CASGEN - 01/09/2011

B number: 
B1237
Principal applicant name: 
Prof Marcus Munafo (University of Bristol, UK)
Co-applicants: 
Prof George Davey Smith (University of Bristol, UK), Prof John Henderson (University of Bristol, UK), Dr Nic Timpson (University of Bristol, UK), Dr Bruna Galobardes (University of Bristol, UK)
Title of project: 
Consortium of Adolescents Studies for the Genetics of Smoking and Nicotine Dependence (CASGEN).
Proposal summary: 

We are interested in organizing a consortium of adolescent and young adult studies (up to age 24) to carry out a meta-analysis of genetic factors for nicotine dependence and cigarette smoking in adolescence. We are aware of several adolescent studies that have genetic and phenotypic data. However, each study is individually underpowered for genetic analysis. Were we able to accumulate a large enough number of such studies, we might be able to implement a meta-analysis similar to that carried out for adults by Saccone and her collaborators (PLoS Genetics 2010) or Ware and colleagues (SRNT 2011).

We are at an early stage of development - several of the relevant studies have extracted DNA but not conducted genotyping, while others have not even collected material for DNA extraction. An analytical plan has also not yet been developed. Nevertheless, we will follow established protocols (e.g., Saccone et al., 2010) for the meta-analysis of data from multiple cohorts. A protocol and statistical analysis code will be developed and implemented by each cohort. Raw data would not be required - coefficients generated by the analysis code would be sufficient.

The primary aim of this consortium is to elucidate genetic influences on cigarette smoking phenotypes in adolescence and young adulthood, specifically: 1) smoking initiation, and 2) subsequent progression to regular use.

Date proposal received: 
Thursday, 1 September, 2011
Date proposal approved: 
Thursday, 1 September, 2011
Keywords: 
Genetics, Smoking
Primary keyword: 

B1235 - The antecedents and consequences of gambling behaviour in young people - 25/08/2011

B number: 
B1235
Principal applicant name: 
Prof Alan Emond (University of Bristol, UK)
Co-applicants: 
Prof Mark Griffiths (Nottingham Trent University, UK)
Title of project: 
The antecedents and consequences of gambling behaviour in young people.
Proposal summary: 

The overall aims of the ALSPAC gambling study are to investigate the distribution and correlations of gambling in young people, and to describe the developmental trajectories from early childhood of young people with gambling problems.

Specific Objectives of the 20/21yr sweep:

1. To describe the gambling activity and the prevalence of gambling behaviours at 21 years, and their relation to parental gambling patterns.

2. To investigate the change in gambling behaviour between 17 and 21, and in particular to assess whether those 'at risk' at 17 have become problem gamblers at 21.

3. To describe the associations of problem gambling with other risk taking behaviours, alcohol and drug use from 17 to 21yrs.

4. To elucidate the interactions between gambling behaviour, impulsivity, sensation seeking and depression in young people.

Date proposal received: 
Thursday, 25 August, 2011
Date proposal approved: 
Thursday, 25 August, 2011
Keywords: 
Risk Behaviour
Primary keyword: 

B1234 - 1958 Management - 2011 onwards - 19/08/2011

B number: 
B1234
Principal applicant name: 
Prof Paul Burton (University of Leicester, UK)
Co-applicants: 
Prof George Davey Smith (University of Bristol, UK), Dr Susan Ring (University of Bristol, UK)
Title of project: 
1958 Management - 2011 onwards.
Proposal summary: 

This infrastructural project is targeted at strategic development of that component of the 1958 Birth Cohort

(1958BC) that is known as the "Biomedical Resource". It will ensure that optimum utility can be extracted

from the Resource during 2011-2014 and that the 1958BC will then be well placed to maintain and extend its

internationally hailed contribution to research in the biomedical and social sciences. The proposal subsumes

three complementary objectives: (1) secure the basic infrastructure as it now exists, thus ensuring that the

successful systems that have already been implemented can be maintained into the future; (2) enhance the

infrastructure from an administrative and strategic management perspective to ensure that it can face

expected and unexpected future challenges and opportunities both effectively and resiliently; (3) enhance the

infrastructure from a scientific perspective to ensure that both the 1958BC, and UK Bioscience, are best

placed to face the scientific challenges of the future. The new science underpinning this application is

focused entirely on optimising and enhancing the utility of the pre-existing Biomedical Resource - the

proposal contains no hypothesis-driven research and no funding is sought for additional data or sample

collection from study participants. The responsibility for strategic development of the cohort as a whole -

including planning for future data sweeps - will remain with the Centre for Longitudinal Studies (CLS). This

application reflects a considered evolution in the thinking of the funders (MRC, WT, ESRC) about strategic

development of the 1958BC Biomedical Resource and of the systems and policies governing access to it.

Initially, responsibility for access and strategic development lay with the Principal Investigators of the

original grant. But, it later became clear that if resource utility was to be optimised it should be managed and

developed by independent scientists and administrators. In 2008, responsibility for managing the 1958BC

biobank therefore transferred to ALSPAC laboratories at the University of Bristol under a joint grant from

MRC/WT. Then, in 2009, responsibility for oversight and strategic development of the Biomedical Resource

as a whole passed to the independent access committee chaired from the University of Leicester under

another small grant from MRC/WT. Following strategic discussions with MRC, WT and ESRC, the

University of Leicester and University of Bristol now outline a vision for joint management of the Biomedical

Resource, to include its strategic development as an infrastructure, under a grant requesting limited - but

adequate - funding to ensure sustainability.

Date proposal received: 
Friday, 19 August, 2011
Date proposal approved: 
Friday, 19 August, 2011
Keywords: 
Primary keyword: 

B1233 - Investigating interdependencies in causal inference statistical methodology - 18/08/2011

B number: 
B1233
Principal applicant name: 
Dr Roland Ramsahai (University of Cambridge, UK)
Co-applicants: 
Dr Tom Palmer (University of Bristol, UK), Dr Vanessa Didelez (University of Bristol, UK)
Title of project: 
Investigating interdependencies in causal inference (statistical methodology).
Proposal summary: 

Aims: We are pursuing methodological research on the concept of 'interdependencies' in causal inference.

Methods: The concept of an interdependency in causal inference is most similar to that of an interaction in standard statistical analysis. There are a series of papers by Vanderweele and Robins from 2007 onwards which define interdependence between causes to produce an effect, as opposed to statistical interaction. They also derive observable constraints to detect interdependence. Our work seeks to extend their constraints and defined interdependence without any deterministic assumptions, which they use with counterfactuals.

Example: In our example we would like to investigate whether there are interdepencies between adiposity genotypes on their effect on measures of adiposity such as BMI and waist-hip ratio. Specifically, the application investigates the interdependence between the FTO (X_1) and MC4R (X_2) SNPs in causing obesity (Y).

Date proposal received: 
Thursday, 18 August, 2011
Date proposal approved: 
Thursday, 18 August, 2011
Keywords: 
Genetics, Methods
Primary keyword: 

B1230 - Mendelian Randomization to understand the causal relationship between adiponectin and insulin resistance/related traits - 18/08/2011

B number: 
B1230
Principal applicant name: 
Prof Tim Frayling (Peninsula College of Medicine, University of Plymouth, UK)
Co-applicants: 
Dr Dawn Waterworth (GlaxoSmithKline (GSK), USA), Dr Rachel Freathy (Peninsula Medical School, University of Plymouth, UK), Dr Hanieh Yaghootkar (Peninsula College of Medicine, University of Plymouth, UK), Dr Liling Warren (GlaxoSmithKline (GSK), USA)
Title of project: 
Mendelian Randomization to understand the causal relationship between adiponectin and insulin resistance/related traits.
Proposal summary: 

Aim and hypothesis: We propose a project that follows on from the recent GWAS paper from the adipogen consortium, and the related paper led by the GSK team that resequenced the coding regions of the ADIPOQ gene.

We would like to use ADIPOQ genotypes to test the hypothesis that adiponectin causally influences insulin resistance, type 2 diabetes and related traits. We propose a Mendelian randomization approach. The proposal will build on the efforts reported in the main GWAS paper.

We plan to:

1. Use several SNPs in the ADIPOQ locus. These include those that are in partial LD, but that together explain more of the variance in circulating adiponectin levels - as replicated in several studies analysed by the proposers (RISC, CoLaus, WTDundee). We believe that there are at least 3 independent signals at ADIPOQ, captured by 3 or 4 SNPs. These signals are tagged to varying extents in different studies. One SNP in particular is a low frequency, large effect variant that will almost certainly require direct genotyping in most studies. Depending on the GWAS chip used and imputation quality, different studies will likely need to genotype 1-4 SNPs. Some of the critical SNPs are on metabochip.

2. Limit the study to ADIPOQ SNPs. We estimate that the ADIPOQ SNPs explain greater than 3% of the variance in adiponectin levels. With enough studies we should be well powered to perform instrumental variables approaches on traits strongly correlated to adiponectin levels, such as fasting and M value based measures of insulin resistance, and lipids. This approach will have the advantage that we are only dealing with "cis" effects - SNPs most likely only acting on circulating adiponectin levels directly through the encoding gene. We will therefore avoid uncertainties due to pleiotropic effects.

3. Limit the Mendelian randomization tests to only studies with all three sides of the "triangles" in place - SNPs, adiponectin and the "secondary" outcome phenotypes. This approach will allow us to perform the more formal "instrumental variables" approach to mendelian randomization. We have extensive experience performing these analyses and will draft an analysis plan.

4. for all studies involved perform a meta-analysis of instrumental variables based estimates of the correlation between adiponectin and secondary traits.

Exposure variable: genotype at 4 SNPs (please see ablove).

Primary outcome variable: adiponectin

Secondary outcome variables: T2D statuse, BMI, HDL, triglyceride, waist hip ratio, fasting insulin, fasting glucose

Confounding variables: age, gender, center (if applicable).

Requirements for participation:

1. ability to genotype 1-4 specific SNPs in study (or subset of study that has adiponectin and secondary outcomes measured) - small possibility that the rare SNP will be imputable but not currently possible with Affy6.0 chip and latest 1000G data.

2. SNPs, adiponectin and main secondary outcome measured in at least 500 individuals.

3. Highly preferable - access to STATA - the statistical software package that can implement instrumental variables analyses most readily.

Date proposal received: 
Thursday, 18 August, 2011
Date proposal approved: 
Thursday, 18 August, 2011
Keywords: 
Mendelian Randomisation, Metabolic
Primary keyword: 

B1225 - Genome-wide Interaction study on birth weight and Maternal Smoking - 18/08/2011

B number: 
B1225
Principal applicant name: 
Prof Marjo-Riitta Jarvelin (Imperial College London, UK)
Co-applicants: 
Dr Sylvain Sebert (Imperial College London, UK)
Title of project: 
Genome-wide Interaction study on birth weight and Maternal Smoking
Proposal summary: 

Maternal smoking during pregnancy is the most important modifiable risk factor for reduced birth size and reduces infant birth weight in a dose related manner (US Dept. of Health and Human Services, 2004). The precise biological routes by which exposure to smoking during pregnancy directly or indirectly influences fetal growth remain unknown. Few unreplicated candidate gene studies have suggested that the offspring's genotype can influence the sensitivity to the effects of maternal smoking (Infante-Rivard, et al., 2006; Price, et al., 2010). Genome-wide interaction studies are warranted and only meta-analysis across large cohorts can provide the sample size necessary for adequate statistical power. It will be vital to include as many cohorts as possible.

Heterogeneity in the exposure variable compromises meta-analytic studies of genotype-environment interaction (Palla et al., 2010). Therefore, we first focus on maternal smoking as a binary exposure as it can be measured reliably and consistently across studies. Dosage and timing are likely to be important modifiers and may be less well recorded. Thus, we will perform secondary analyses using these variables in cohorts where such information is available.

We propose a genome-wide meta-analysis of interactions between child genotype and maternal smoking on singleton infant birth weight adjusted for gestational age. The investigation will focus on term deliveries. Gestational age and gender are desirable covariates in the analysis.

Date proposal received: 
Thursday, 11 August, 2011
Date proposal approved: 
Thursday, 18 August, 2011
Keywords: 
GWAS, Smoking, Birth weight, Birth Outcomes
Primary keyword: 

B1229 - Using Mendelian Randomisation to Establish the Causal Role of Cigarette Smoking in Anxiety and Depression - 11/08/2011

B number: 
B1229
Principal applicant name: 
Prof Marcus Munafo (University of Bristol, UK)
Co-applicants: 
Prof Matt Hickman (University of Bristol, UK), Prof John Macleod (University of Bristol, UK), Prof Glyn Lewis (University of Bristol, UK), Prof George Davey Smith (University of Bristol, UK)
Title of project: 
Using Mendelian Randomisation to Establish the Causal Role of Cigarette Smoking in Anxiety and Depression.
Proposal summary: 

Aim :To establish whether cigarette smoking causally influences risk of depression, self-harm and suicide

We will use rs1051730 / rs16966968 as a genetic instrumental variable to establish whether cigarette smoking causes depression, self-harm and suicide.

We hypothesise that the risk allele for heavy smoking will be associated with increased depression and it's sequelae, that this association will be fully accounted for by cigarette smoking, and that this association will not be observed in non-smokers.

Aims: To investigate whether the contribution of cigarette smoking to depression varies with age.

Based on evidence from preclinical studies relating to the sensitivity of the adolescent brain to nicotine, we hypothesise that cigarette smoking increases the risk of depression, and that this risk is greater in adolescence than adulthood.

To investigate the use of linkage of administrative data to corroborate outcome status.

Where available, we will use linked administrative data (e.g., electronic patient records, Hospital Episodes Statistics database) to corroborate outcome / exposure status, and explore whether classifications based on these influence apparent effects of exposure.

Date proposal received: 
Thursday, 11 August, 2011
Date proposal approved: 
Thursday, 11 August, 2011
Keywords: 
Genetics, Mental Health, Smoking
Primary keyword: 

B1228 - Genetics prices and addiction - 11/08/2011

B number: 
B1228
Principal applicant name: 
Dr Emma Tominey (University of York, UK)
Co-applicants: 
Dr Jerome Adda (European University Institute, Europe)
Title of project: 
Genetics, prices and addiction.
Proposal summary: 

An economics literature has examined several determinants of addiction to cigarettes, including family habits, prices and discount rates. One area which is currently underexplored within this setting is the role of genetics in addiction formation. Both prices (Gruber & Zinman, 2001) and genes (Ding et al, 2009; Fletcher & Lehrer, 2011) have been found to drive smoking behaviour, but the interaction has not been explored. Our project will investigate how individuals differ in their response to health policies based on prices, and how genetics play a role in this.

In stage one of the project, we hypothesise that two mechanisms interact to partially determine the habit formation of smoking and other drug taking for young ALSPAC members. Firstly, young individuals consider the price of cigarettes when deciding whether to smoke. We will exploit price changes along two dimensions. As cohort members age, changes in taxes on cigarettes vary the price. Additionally, the ALSPAC children were born across a 21 month period and consequently for a given age, the price of a cigarette will vary. This will allow us to identify the effect of price changes upon the first age of smoking.

Secondly, an individual's response to their first cigarette will depend among other things, upon their genotype. Variations in both the speed of nicotine metabolism and dopamine and serotonin transmitters create heterogeneous adverse or positive reactions of a first cigarette, and subsequent dependence. We will investigate whether the response to a price change is less effective in individuals with certain genotypes.

In the second phase of the project we will explore the implications for the ALSPAC children of forming an addiction. Nicotine, alcohol or cannabis can themselves have detrimental effects on individuals. Retrospective information on smoking habits, prices and genotype will be combined with outcomes for 16 year old children. We will explore the effect on behavioural outcomes, obesity, expectations for the future, achievement against test scores and criminal activity. The methodology will exploit genetic variations in an instrumental variable setting. Assuming that genotype drives child outcomes only through its effect on smoking dependence allows estimation of the causal effect of addiction.

There are important policy implications inherent in this study. If the responsiveness of drug dependence to price changes varies across genotype, a group of individuals will require stronger intervention methods than prices alone. This is particularly true if we find adverse effects of forming an addiction on later outcomes for children.

Variables

We plan to make use of the genetic information for mothers and children of ALSPAC. The gene CYP2A6 drives the metabolism of nicotine and cotinine as well as other drugs and toxins.[1] There are different variants of activity of CYP2A6, and ALSPAC contains data on two in particular - CYP2A6*2 and CYP2A6*9 - which indicate slow functionality. CYP2A6*2 and CYP2A6*9 was measured for children and mothers. Lerman & Berrettial (2003) note the importance to control for maternal genes in order to separate the effects from the child's inherited genotype and familial smoking behaviour which is driven by parental genes. We would therefore request the genotype data for both generations. We hypothesise that children with differing activity of the gene will have different responses to smoking the first cigarette, and subsequent development of a smoking habit. Smoking is indeed found less likely in individuals with these variants and, for those who do smoke, quantities reported are lower[2]. Also, through its metabolism of other toxins, variants of CYP2A6 may drive the response to other drugs including alcohol and cannabis.

In addition, two genes contained in the ALSPAC genotyping archive which link to dopamine and serotonin transmitters are

SLC6A4 (5HTT) and MAOA. Variants in these genes lead to differential signals of pleasure upon consuming drugs, which again may drive the early stage addiction and dependence to the drugs.

At ages 14 and 16 questionnaires recorded the age ALSPAC children first smoked, drank an alcoholic drink and took drugs, the intensity with which they consumed them and records how the drugs affected them. For example, there is information on whether they felt ill after smoking. We will explore whether the reaction to the first experience of a drug differs by genotype.

The confounding variables are grouped into several categories. We will control for family smoking habits through the history of maternal and partner's reported smoking status. This will be important to the extent that children mimic the smoking behaviour of their parents. Additionally, as smoking behaviour is non-random across socio-economic groups we will control for education and occupation of parents. It is a concern that smoking behaviour is indicative of discount rates, whereby individuals with high discount rates place little weight on future periods relative to the present. To control for this, we will utilise the variables on diet, fitness and gambling.

[1]Hughes et al (1984), Ingelman-Sundberg, Nakajima M, Yamamoto T, Nunoya K, et al.(1996), Messina ES et al (1997), Benowitz NL, Jacob P III (1994).

[2] Schoedel et al (2004).

Date proposal received: 
Thursday, 11 August, 2011
Date proposal approved: 
Thursday, 11 August, 2011
Keywords: 
Alcohol, Genetics, Illicit Drugs, Smoking
Primary keyword: 

B1227 - Plasma protein and fatty acid biomarker discovery and validation programme for psychosis and the prodrome of psychosis - 11/08/2011

B number: 
B1227
Principal applicant name: 
Prof David Cotter (Royal College of Surgeons, Ireland, Europe)
Co-applicants: 
Dr Gerard Cagney (University College Dublin, Europe), Dr Stanley Zammit (University of Bristol, UK), Prof Glyn Lewis (University of Bristol, UK)
Title of project: 
Plasma protein and fatty acid biomarker discovery and validation programme for psychosis and the prodrome of psychosis.
Proposal summary: 

Aims:

1. We aim to identify plasma protein and fatty acid biomarkers of conversion to the prodrome or psychosis at age 17.

2. We aim to test the validity of these biomarkers as predictors of future conversion in the age 12 samples of the same subjects.

Date proposal received: 
Thursday, 11 August, 2011
Date proposal approved: 
Thursday, 11 August, 2011
Keywords: 
Mental Health, PLIKS, Proteomics
Primary keyword: 

B1224 - The sources of vitamin A D and energy in the diets of pre-school children - 04/08/2011

B number: 
B1224
Principal applicant name: 
Dr Pauline Emmett (University of Bristol, UK)
Co-applicants: 
Dr Kate Northstone (University of Bristol, UK)
Title of project: 
The sources of vitamin A & D, and energy in the diets of pre-school children.
Proposal summary: 

Aim: To assess the sources of vitamin A and D in the diets of 18 & 43 month old children in comparison to energy intake in core & non-core foods. To provide evidence for dietary recommendations with regard to Vitamin A & D intakes.

Hypothesis: Core foods will supply more of the nutrients than non-core foods but less of the energy.

Dietary Vitamin D levels will be related to Vitamin D status as measured in blood samples collected at 43 months (This will only be done if blood levels of Vitamin D are already available or we can raise separate funds).

The quality of the diet with respect to Vitamins A and D will be related to socioeconomic postion and family make up.

Variables required: Dietary diary data for the children in focus subsample at age 18 & 43 months. Antropometric measurement for these children at both ages and blood levels of Vitamin D if available.

Date proposal received: 
Thursday, 4 August, 2011
Date proposal approved: 
Thursday, 4 August, 2011
Keywords: 
Nutrition, Diet, Vitamin D
Primary keyword: 

B1222 - The effect of snoring mouth breathing apnoea adenoidectomy and tonsillectomy on face shape PhD - 04/08/2011

B number: 
B1222
Principal applicant name: 
Prof Stephen Richmond (University of Cardiff, UK)
Co-applicants: 
Prof John Henderson (University of Bristol, UK), Prof Karen Bonuck (Albert Einstein College of Medicine, USA)
Title of project: 
The effect of snoring, mouth breathing, apnoea, adenoidectomy and tonsillectomy on face shape (PhD).
Proposal summary: 

Aims: To explore the effect of sleep disordered breathing in early childhood on face shape at age 15 years and to evaluate the effect of adenoidectomy and tonsillectomy on face shape.

Hypothesis: Sleep disordered breathing in early childhood, tonsillectomy and adenoidectomy have no effect on face shape in late adolescence.

Background: Sleep disorder breathing manifesting as mouth breathing, snoring and sleep apnoea has been of interest to orthodontists for decades as restricted nasal breathing tends to result in significant facial changes particularly increased face height with retrusive chin. However, removal of adenoids and tonsils has been reported as having a significant effect on obstructive breathing and if conducted early will normalise dentofacial morphology. Most of the previous studies have involved small samples (less than 20) and the facial parameters determined by lateral skull radiographs. The ALSPAC resource provides the opportunity to explore a longitudinal data set with detailed facial morphometry measures in late childhood on a large, representative sample of children.

We will explore the effect of sleep disordered breathing at ages 0-6 years on three-dimensional face shape at 15 years of age.

The principal outcome measures will be changes in upper and lower face heights as well as prominence of the nose maxilla and mandible. Differences in the 22 facial landmarks (x, y and z) between the various groups will be evaluated as well as comparison of mean three-dimensional facial shells for each subgroup. This should provide a comprehensive evaluation of the effects of sleep disorder breathing and removal of adenoids and tonsils on face shape.

Date proposal received: 
Thursday, 4 August, 2011
Date proposal approved: 
Thursday, 4 August, 2011
Keywords: 
Face Shape , Sleep, Sleep Patterns
Primary keyword: 

B1221 - The role of environmentally induced epigenetic variation in childhood ALL susceptibility - 04/08/2011

B number: 
B1221
Principal applicant name: 
Dr Caroline Relton (Newcastle University, UK)
Co-applicants: 
Dr Gordon Strathdee (Newcastle University, UK), Dr Jill McKay (Newcastle University, UK), Prof George Davey Smith (University of Bristol, UK)
Title of project: 
The role of environmentally induced epigenetic variation in childhood ALL susceptibility
Proposal summary: 

The objective of this project will be to determine the ability of early life exposures to induce leukaemia-associated DNA methylation changes in apparently normal cells, which may increase the individual's likelihood of subsequently developing childhood leukaemia. Identification of such links might provide a plausible biological mechanism by which early life exposures could increase leukaemia risk and provide a rational basis for future dietary/environmental interventions aimed at reducing the development of abnormal DNA methylation and thus reducing the risk of leukaemia.

Specific aims: (i)Measure DNA methylation in a panel of genes (that we have previously identified as showing variation in childhood leukaemia cases) in cord blood DNA from a large, intensively characterised birth cohort and relate these findings to a wide range of exposures reported to influence leukaemia risk. (ii)Conduct allele-specific analysis of variation in DNA methylation to determine the allelic distribution of DNA methylation and whether this includes the appearance of highly methylated alleles, similar to those observed in full blown leukaemia.

Date proposal received: 
Thursday, 4 August, 2011
Date proposal approved: 
Thursday, 4 August, 2011
Keywords: 
Cancer, Epigenetics
Primary keyword: 

B1202 - Association of the mu-opioid receptor and DRD2 genes with body weight in parents and children - 02/08/2011

B number: 
B1202
Principal applicant name: 
Dr Charlotte Hardman (University of Bristol, UK)
Co-applicants: 
Prof Peter Rogers (University of Bristol, UK), Prof Marcus Munafo (University of Bristol, UK)
Title of project: 
Association of the mu-opioid receptor and DRD2 genes with body weight in parents and children.
Proposal summary: 

In the literature there currently exist two diametrically opposite hypotheses; while one school of thought argues that obesity is associated with hyper-responsivity or excessive 'wanting' for food, another line of argument postulates that obese individuals are in fact hypo-sensitive to the rewarding properties of food. This latter hypothesis is informed by evidence that the dopaminergic system is downregulated in the obese, which, in turn, is believed to lead to chronic over-consumption of food as a means to compensate for the deficit. Aims and hypotheses: With respect to the above proposed studies investigating the opioid and dopaminergic systems, in the first instance it will be of critical importance to demonstrate that the candidate genes (OPRM1 and DRD2) are associated with obesity. The proposed pilot work will enable us to determine whether associations exist between OPRM1, DRD2, and obesity and we feel that these data will add a major strength to our subsequent grant proposal. On the other hand, if we were to find support for the null hypothesis, that these genes are not associated with obesity, then we would not pursue this line of enquiry. Either way, we feel that the scientific quality of our proposal will be greatly enhanced through the procurement of this pilot data from the ALSPAC cohort. We aim to examine data from ALSPAC on genotype (OPRM1, DRD2) and body fatness in the children and mothers. Specifically, we are interested in data on BMI waist circumference and body fatness at all available time points within the ALSPAC cohort. Our analyses will determine the extent to which OPRM1 and DRD2 genotypes are associated with these variables, both cross-sectionally and longitudinally.

Date proposal received: 
Thursday, 7 July, 2011
Date proposal approved: 
Tuesday, 2 August, 2011
Keywords: 
Genetics, Obesity
Primary keyword: 

B1199 - The genetics of cerebral asymmetry and handedness - 02/08/2011

B number: 
B1199
Principal applicant name: 
Prof William Brandler (University of Oxford, UK)
Co-applicants: 
Sylvia Paracchini (Not used 0, Not used 0), Anthony P Monaco (Not used 0, Not used 0), Andrew Morris (Not used 0, Not used 0)
Title of project: 
The genetics of cerebral asymmetry and handedness.
Proposal summary: 

Based on the results of our GWAS, we are interested in further dissecting the relationship between handedness and neurodevelopmental disorders such as dyslexia. We found an association between relative hand skill and PCSK6, specifically in individuals with dyslexia. Inclusion of individuals from ALSPAC with SLI and ADHD resulted in a stronger association. We are proposing to analyse the ALSPAC GWAS data for the pegboard measure specifically in those individuals we previously identified as having dyslexia, specific language impairment (SLI), or attention deficit hyperactivity disorder (ADHD).

We would first analyse those individuals defined as having dyslexia (N=238) genome-wide, then perform a meta-analysis with our own GWAS data. Following this, we can then replicate individual SNPs in our sample of unrelated dyslexic cases characterised with the pegboard measure (N=385). We will then extend the analysis to the larger group classified for neurodevelopmental disorders including SLI, ADHD and comorbid cases.

Our hypothesis is that the genetic basis of handedness, cerebral asymmetry and neurodevelopment are interlinked. SNPs associated with handedness in individuals with a neurodevelopmental disorder such as dyslexia may therefore be different to associated SNPs in a general population cohort.

Date proposal received: 
Thursday, 7 July, 2011
Date proposal approved: 
Tuesday, 2 August, 2011
Keywords: 
Genetics, Handedness
Primary keyword: 

Pages