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Article
Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
The UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited disorders using whole genome sequencing (WGS). Here, we address, for f...
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Inborn Errors of Lipoprotein Metabolism Presenting in Childhood
Lipids are highly diverse molecules that are traditionally best known for their role in the formation of biological membranes and cellular systems and as a way to store energy. In the last decade, lipids have ...
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Article
Open AccessIntake of food rich in saturated fat in relation to subclinical atherosclerosis and potential modulating effects from single genetic variants
The relationship between intake of saturated fats and subclinical atherosclerosis, as well as the possible influence of genetic variants, is poorly understood and investigated. We aimed to investigate this rel...
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Article
Open AccessAlcohol consumption in relation to carotid subclinical atherosclerosis and its progression: results from a European longitudinal multicentre study
The association between alcohol consumption and subclinical atherosclerosis is still unclear. Using data from a European multicentre study, we assess subclinical atherosclerosis and its 30-month progression by...
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Article
Open AccessThe overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals
Understanding why individuals with severe mental illness (Schizophrenia, Bipolar Disorder and Major Depressive Disorder) have increased risk of cardiometabolic disease (including obesity, type 2 diabetes and c...
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Article
Open AccessAnalysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study
The genes regulating circulating levels of soluble gp130 (sgp130), the antagonist of the inflammatory response in atherosclerosis driven by interleukin 6, are largely unknown. Aims of the present study were to...
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Article
Open AccessPhenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9.
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Article
Open AccessGenetic variation in CADM2 as a link between psychological traits and obesity
CADM2 has been associated with a range of behavioural and metabolic traits, including physical activity, risk-taking, educational attainment, alcohol and cannabis use and obesity. Here, we set out to determine wh...
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Article
Open AccessPolygenic Hypercholesterolemia and Cardiovascular Disease Risk
Identification of loci and common single-nucleotide polymorphisms (SNPs) that have modest effects on plasma lipids have been used to confirm or refute the causal role of lipid traits in the development of coron.....
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Article
Open AccessGWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of...
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Article
Open AccessAssociation of circulating metabolites with healthy diet and risk of cardiovascular disease: analysis of two cohort studies
Diet may modify metabolomic profiles towards higher or lower cardiovascular disease (CVD) risk. We aimed to identify metabolite profiles associated with high adherence to dietary recommendations - the Alternat...
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Article
Open AccessGenetic Architecture of Familial Hypercholesterolaemia
Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary...
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Article
Common and rare genetic variants and risk of CHD
Much of the progress in cardiovascular genetics in 2016 has been driven by next-generation sequencing studies, and the clinical utility of knowing an individual's genotype for predicting their risk of cardiova...
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Article
Open AccessCommon variants in the genes of triglyceride and HDL-C metabolism lack association with coronary artery disease in the Pakistani subjects
Serum Triglyceride (TG) and High Density Lipoprotein (HDL-C) levels are modifiable coronary artery disease (CAD) risk factors. Polymorphisms in the genes regulating TG and HDL-C levels contribute to the develo...
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Article
Open AccessA 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics
The coronary risk in diabetes (CoRDia) trial (n = 211) compares the effectiveness of usual diabetes care with a self-management intervention (SMI), with and without personalised risk information (including gen...
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Article
Open AccessVariant rs10911021 that associates with coronary heart disease in type 2 diabetes, is associated with lower concentrations of circulating HDL cholesterol and large HDL particles but not with amino acids
An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD) in type 2 diabetes (T2D). Using data from the UCLEB consortium we investigated the relation...
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Article
Open AccessEffectiveness of a self-management intervention with personalised genetic and lifestyle-related risk information on coronary heart disease and diabetes-related risk in type 2 diabetes (CoRDia): study protocol for a randomised controlled trial
Many patients with type 2 diabetes fail to achieve good glycaemic control. Poor control is associated with complications including coronary heart disease (CHD). Effective self-management and engagement in heal...
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Article
Genetic fine map** and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine map** and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants i...
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Article
Open AccessA genome-wide association study identifies multiple loci for variation in human ear morphology
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and...
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Article
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Nature Communications 5: Article number: 4871 (2015); Published 16 September 2014; Updated 12 May 2015 During the production of this Article, errors were introduced in the frequencies of the variants rs964184-...
