- Genetic Associations and Epidemiology
- Birth, Development, and Health
- Obesity, Physical Activity, Diet
- Sleep and related disorders
- Gestational Diabetes Research and Management
- BRCA gene mutations in cancer
- Photodynamic Therapy Research Studies
- Nutrition, Genetics, and Disease
- Liver Disease Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- Epigenetics and DNA Methylation
- Nanoplatforms for cancer theranostics
- Cardiovascular Disease and Adiposity
- Pregnancy and preeclampsia studies
- Sleep and Wakefulness Research
- Health, Environment, Cognitive Aging
- Circadian rhythm and melatonin
- Genetic and phenotypic traits in livestock
- Genomics and Rare Diseases
- Vestibular and auditory disorders
- Genetic factors in colorectal cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Head and Neck Cancer Studies
- Nutritional Studies and Diet
- Nonmelanoma Skin Cancer Studies
University of Exeter
2015-2024
Royal Devon and Exeter Hospital
2015-2024
The University of Sydney
2022-2024
Confluence Life Sciences (United States)
2023
Exeter Hospital
2019-2022
NIHR Exeter Clinical Research Facility
2019-2022
Institute of Neurobiology
2022
University College London
2022
King's College London
2022
ORCID
2021
Abstract Being a morning person is behavioural indicator of person’s underlying circadian rhythm. Using genome-wide data from 697,828 UK Biobank and 23andMe participants we increase the number genetic loci associated with being 24 to 351. 85,760 individuals activity-monitor derived measures sleep timing find that chronotype associate timing: mean 5% carrying most morningness alleles 25 min earlier than fewest. The are enriched for genes involved in regulation, cAMP, glutamate insulin...
Abstract Sleep is an essential state of decreased activity and alertness but molecular factors regulating sleep duration remain unknown. Through genome-wide association analysis in 446,118 adults European ancestry from the UK Biobank, we identify 78 loci for self-reported habitual ( p < 5 × 10 −8 ; 43 at 6 −9 ). Replication observed PAX8 , VRK2 FBXL12/UBL5/PIN1 CHARGE study n = 47,180; 6.3 −4 ), 55 signals show sign-concordant effects. The further associate with accelerometer-derived...
<b>Objective</b> To determine whether height and body mass index (BMI) have a causal role in five measures of socioeconomic status. <b>Design</b> Mendelian randomisation study to test for effects differences stature BMI on Mendelian exploits the fact that genotypes are randomly assigned at conception thus not confounded by non-genetic factors. <b>Setting</b> UK Biobank. <b>Participants</b> 119 669 men women British ancestry, aged between 37 73 years. <b>Main outcome...
Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, HLA loci. We aimed to more completely incorporate alleles, their interactions, and recently discovered into an improved T1D GRS (termed the "T1D GRS2") better discriminate subtypes predict in newborn screening studies.
Abstract Sleep is an essential human function but its regulation poorly understood. Using accelerometer data from 85,670 UK Biobank participants, we perform a genome-wide association study of 8 derived sleep traits representing quality, quantity and timing, validate our findings in 5,819 individuals. We identify 47 genetic associations at P < 5 × 10 −8 , which 20 reach stricter threshold −10 . These include 26 novel with measures quality nocturnal duration. The majority identified...
<h3>Importance</h3> Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits observationally associated with weight, but the causal nature these associations is uncertain. <h3>Objective</h3> To test for genetic evidence body mass index (BMI) related weight. <h3>Design, Setting, Participants</h3> Mendelian randomization whether BMI potentially causally offspring Data from 30 487 in 18 studies were analyzed....
Previous studies have suggested that modern obesogenic environments accentuate the genetic risk of obesity. However, these proven controversial as to which, if any, measures environment susceptibility high body mass index (BMI).
Depression is more common in obese than non-obese individuals, especially women, but the causal relationship between obesity and depression complex uncertain. Previous studies have used genetic variants associated with BMI to provide evidence that higher body mass index (BMI) causes depression, not tested whether this driven by metabolic consequences of nor for differences men women.We performed a Mendelian randomization study using 48 791 individuals 291 995 controls UK Biobank, test...
More than 100,000 genetic variants are classified as disease causing in public databases. However, the true penetrance of many these rare alleles is uncertain and might be over-estimated by clinical ascertainment. Here, we use data from 379,768 UK Biobank (UKB) participants European ancestry to assess pathogenicity putatively clinically important variants. Although harder genotype accurately common variants, were able classify high quality 1,244 4,585 (27%) relevant (MAF < 1%) genotyped on...
Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role maternal genetic variation. We aimed to identify variants associated with that could highlight potentially relevant determinants growth. meta-analysed data up 8.7 million SNPs in 86 577 women European descent from Early Growth Genetics (EGG) Consortium and UK Biobank. used structural equation modelling (SEM) analyses mother-child pairs quantify separate effects....
Abstract Large studies such as UK Biobank are increasingly used for GWAS and Mendelian randomization (MR) studies. However, selection into dropout from may bias genetic phenotypic associations. We examine factors affecting participation in four optional components up to 451,306 participants. identify variants associated with participation, MR estimate effects of phenotypes on correlations compare across different 32 were one the ( P < 6 × 10 −9 ), including loci links intelligence...
Low level chronic exposure to toxicants is associated with a range of adverse health effects. Understanding the various factors that influence chemical burden an individual critical importance public strategies. We investigated relationships between socioeconomic status (SES) and bio-monitored concentration in five cross-sectional waves U.S. National Health Nutrition Examination Survey (NHANES). utilised adjusted linear regression models investigate association 179 poverty income ratio (PIR)...
Nearly 50 million people worldwide suffer from age-related macular degeneration (AMD), which causes severe loss of central vision. A single-nucleotide polymorphism in the gene for complement regulator factor H (FH), a Tyr-to-His substitution at position 402, is linked to ∼50% attributable risks AMD. We present crystal structure region FH containing polymorphic amino acid His402 complex with an analogue glycosaminoglycans (GAGs) that localize on cell surface. The demonstrates direct...
Recent genetic studies have identified some alleles that are associated with higher BMI but lower risk of type 2 diabetes, hypertension, and heart disease. These “favorable adiposity” collectively insulin levels subcutaneous–to–visceral adipose tissue ratio may protect from disease through storage capacity. We aimed to use data 164,609 individuals the UK Biobank five other replicate associations between a score 11 favorable adiposity variants disease, test for interactions genetics, effects...
In Brief Objectives: The aims of this study were to estimate the prevalence Ménière's disease and investigate its relationship with: demographic factors; symptoms conditions that are known or hypothesized be associated with disease; other physical diseases; mental health. Design: authors used cross-sectional data from UK Biobank compare 1376 self-reported participants over 500,000 without Ménière's. set has comprehensive anthropometric measures, questionnaire investigating health,...