Nicholas J. Timpson
A5064383725- Genetic Associations and Epidemiology
- Birth, Development, and Health
- Health, Environment, Cognitive Aging
- Nutrition, Genetics, and Disease
- Nutritional Studies and Diet
- Epigenetics and DNA Methylation
- Obesity, Physical Activity, Diet
- Metabolomics and Mass Spectrometry Studies
- Cancer, Lipids, and Metabolism
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Adipokines, Inflammation, and Metabolic Diseases
- Adipose Tissue and Metabolism
- Liver Disease Diagnosis and Treatment
- Diet and metabolism studies
- Folate and B Vitamins Research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Cardiovascular Disease and Adiposity
- Cancer-related molecular mechanisms research
- Bioinformatics and Genomic Networks
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Air Quality and Health Impacts
- Digestive system and related health
University of Bristol
2016-2025
MRC Epidemiology Unit
2016-2025
Medical Research Council
2015-2024
MRC Integrative Epidemiology Unit
2014-2023
University of Milan
2023
Children's Hospital of Philadelphia
2022
University College London
2012-2021
Institute for Fiscal Studies
2021
NIHR Bristol Biomedical Research Centre
2018-2021
Baylor College of Medicine
2021
Results from genome-wide association studies (GWAS) can be used to infer causal relationships between phenotypes, using a strategy known as 2-sample Mendelian randomization (2SMR) and bypassing the need for individual-level data. However, 2SMR methods are evolving rapidly GWAS results often insufficiently curated, undermining efficient implementation of approach. We therefore developed MR-Base ( http://www.mrbase.org ): platform that integrates curated database complete (no restrictions...
Obesity is a serious international health problem that increases the risk of several common diseases. The genetic factors predisposing to obesity are poorly understood. A genome-wide search for type 2 diabetesâsusceptibility genes identified variant in FTO (fat mass and associated) gene predisposes diabetes through an effect on body index (BMI). An additive association with BMI was replicated 13 cohorts 38,759 participants. 16% adults who homozygous allele weighed about 3 kilograms more...
Observational epidemiological studies suffer from many potential biases, confounding and reverse causation, this limits their ability to robustly identify causal associations. Several high-profile situations exist in which randomized controlled trials of precisely the same intervention that has been examined observational have produced markedly different findings. In other sciences, use instrumental variable (IV) approaches one approach strengthening inferences non-experimental situations....
The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by Wellcome Trust Case Control Consortium, we set out to detect replicated association signals through analysis 3757 additional 5346 integration our findings with equivalent other international consortia. We detected susceptibility loci around genes CDKAL1, CDKN2A/CDKN2B, IGF2BP2 confirmed...
Finding individual-level data for adequately-powered Mendelian randomization analyses may be problematic. As publicly-available summarized on genetic associations with disease outcomes from large consortia are becoming more abundant, use of published is an attractive analysis strategy obtaining precise estimates the causal effects risk factors outcomes. We detail necessary steps conducting investigations using data, and present novel statistical methods combining multiple (correlated or...
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high 80×) nearly 10,000 individuals population-based disease collections. In extensively phenotyped cohorts characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel identify alleles associated with levels triglycerides (APOB), adiponectin (ADIPOQ) low-density...
Mendelian randomisation (MR) studies allow a better understanding of the causal effects modifiable exposures on health outcomes, but published evidence is often hampered by inadequate reporting. Reporting guidelines help authors effectively communicate all critical information about what was done and found. STROBE-MR (strengthening reporting observational in epidemiology using mendelian randomisation) assists their MR research clearly transparently. Adopting should readers, reviewers,...
Mendelian randomisation analyses use genetic variants as instrumental variables (IVs) to estimate causal effects of modifiable risk factors on disease outcomes. Genetic typically explain a small proportion the variability in factors; hence can require large sample sizes. However, an increasing number have been found be robustly associated with disease-related outcomes genome-wide association studies. Use multiple instruments improve precision IV estimates, and also permit examination...
<ns4:p>The Avon Longitudinal Study of Parents and Children (ALSPAC) is a prospective population-based study. Initial recruitment pregnant women took place in 1990-1992 the health development index children from these pregnancies their family members have been followed ever since. The eligible sampling frame was constructed retrospectively using linked service records. Additional offspring that were to enrol study welcomed through major drives at ages 7 18 years; opportunistic contacts since...