- Genetic Associations and Epidemiology
- Metabolomics and Mass Spectrometry Studies
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Birth, Development, and Health
- Congenital heart defects research
- Bioinformatics and Genomic Networks
- Atherosclerosis and Cardiovascular Diseases
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Nutrition, Genetics, and Disease
- Diet, Metabolism, and Disease
- Cancer-related molecular mechanisms research
- Pancreatic function and diabetes
- Lipoproteins and Cardiovascular Health
- Epigenetics and DNA Methylation
- Hormonal Regulation and Hypertension
- Lipid metabolism and disorders
- Cancer, Lipids, and Metabolism
- Adipokines, Inflammation, and Metabolic Diseases
- Alcohol Consumption and Health Effects
- Adipose Tissue and Metabolism
- Liver Disease Diagnosis and Treatment
- Metabolism, Diabetes, and Cancer
- Cholesterol and Lipid Metabolism
University of Oxford
2016-2025
Centre for Human Genetics
2016-2025
John Radcliffe Hospital
2012-2025
University of Cambridge
2017-2024
Reserve Bank of India
2024
British Heart Foundation
2018
Center for Non-Communicable Diseases
2017
University of Leicester
2017
University of Pennsylvania
2017
University College of Medical Sciences
2017
An increased level of Lp(a) lipoprotein has been identified as a risk factor for coronary artery disease that is highly heritable. The genetic determinants the and their relevance are incompletely understood.We used novel gene chip containing 48,742 single-nucleotide polymorphisms (SNPs) in 2100 candidate genes to test associations 3145 case subjects with 3352 control subjects. Replication was tested three independent populations involving 4846 additional 4594 subjects.Three chromosomal...
Genome-wide association studies have identified a region on chromosome 9p that is associated with coronary artery disease (CAD). The also type 2 diabetes (T2D), risk factor for CAD, although different SNPs were reported to be each in separate studies. We undertaken case–control study 4251 CAD cases and 4443 controls four European populations using previously (‘literature’) tagging SNPs. replicated the literature (P = 8×10−13; OR 1.29; 95% CI: 1.20–1.38) showed strong consistent detected by...
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes
Given the anthropometric differences between men and women previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip waist-to-hip-ratio (133,723 individuals) took forward 348 SNPs into follow-up (additional 137,052 total 94 studies. Seven loci displayed significant (FDR<5%), including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA,...
Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces risk coronary heart disease is not known. Human mutations that inactivate a gene encoding drug target can mimic action an inhibitory and thus be used to infer potential effects drug.We sequenced exons NPC1L1 in 7364 patients with 14,728 controls without who were European, African, or South Asian ancestry. We...
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk presence numbers neutral variants, even phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare as they have deleterious that present at higher frequencies well a substantial reduction variation. To explore potential Finnish founder population low-frequency (0.5–5%)...