Robin N. Beaumont
A5076542409- Genetic Associations and Epidemiology
- Birth, Development, and Health
- Pregnancy and preeclampsia studies
- Gestational Diabetes Research and Management
- Obesity, Physical Activity, Diet
- Genomics and Rare Diseases
- Sleep and related disorders
- Epigenetics and DNA Methylation
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Liver Disease Diagnosis and Treatment
- Cardiovascular Disease and Adiposity
- Circadian rhythm and melatonin
- Sleep and Wakefulness Research
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Folate and B Vitamins Research
- Genetic and phenotypic traits in livestock
- Pancreatic function and diabetes
- Reproductive Biology and Fertility
- Prenatal Screening and Diagnostics
- Cancer-related gene regulation
- Genetic factors in colorectal cancer
University of Exeter
2016-2025
Royal Devon and Exeter Hospital
2015-2024
Phillips Exeter Academy
2024
Engineering Service Center und Handel (Germany)
2024
Exeter Hospital
2019-2022
ORCID
2021
Cardiff University
2020
Advanced Neural Dynamics (United States)
2020
Royal Devon & Exeter NHS Foundation Trust
2017-2018
University College of the North
1999
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...
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...
Abstract Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown milder subclinical phenotypes population cohorts. Here, we show that carrying multiple (2−5) rare across 599 dominant DD has an additive adverse effect on numerous cognitive socioeconomic traits UK Biobank, which can be partially counterbalanced by higher educational attainment polygenic score (EA-PGS). Phenotypic deviators from expected EA-PGS could...
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...
Variation in human lifespan is 20 to 30% heritable twins but few genetic variants have been identified. We undertook a Genome Wide Association Study (GWAS) using age at death of parents middle-aged UK Biobank participants European decent (n=75,244 with father's and/or mother's data, excluding early deaths). Genetic risk scores for 19 phenotypes (n=777 proven variants) were also tested. In GWAS, nicotine receptor locus(CHRNA3, previously associated increased smoking and lung cancer) was...