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Article
The Molecular Genetics of Pediatric Lipid Disorders: Recent Progress and Future Research Directions
ABSTRACT: Over the last 10 years, the explosion of molecular biology and molecular genetic techniques have allowed major advances in the diagnosis and management of a wide variety of human disorders. These ran...
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Article
Open AccessAn interaction between the interleukin-6 -174G>C gene variant and urinary protein excretion influences plasma oxidative stress in subjects with type 2 diabetes
Microalbuminuria and subsequent progression to proteinuria and nephropathy is associated with increased oxidative stress, increased inflammatory cytokines and increased cardiovascular (CVD) risk. The common fu...
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Article
Open AccessDoes angiotensin-1 converting enzyme genotype influence motor or cognitive development after pre-term birth?
Raised activity of the renin-angiotensin system (RAS) may both amplify inflammatory and free radical responses and decrease tissue metabolic efficiency and thus enhance cerebral injury in the preterm infant. T...
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Article
Variation in the Interleukin-6 Gene Is Associated with Impaired Cognitive Development in Children Born Prematurely: A Preliminary Study
The pro-inflammatory cytokine IL-6 may be neurocytopathogenic, and elevated levels are associated with impaired neurological outcome among children born prematurely. However, the precise mechanisms underlying ...
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Article
Open AccessThe association of telomere length with paternal history of premature myocardial infarction in the European Atherosclerosis Research Study II
Inter-individual variability in telomere length is highly heritable and has been correlated with risk of coronary heart disease (CHD). Our aim was to determine the association of mean leukocyte telomere length...
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Article
Open AccessAngiotensin-converting enzyme genotype and late respiratory complications of mustard gas exposure
Exposure to mustard gas frequently results in long-term respiratory complications. However the factors which drive the development and progression of these complications remain unclear. The Renin Angiotensin S...
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Article
Open AccessRealising the potential of the family history in risk assessment and primary prevention of coronary heart disease in primary care: ADDFAM study protocol
Coronary heart disease (CHD) is the leading cause of death in the developed world, and its prevention a core activity in current UK general practice. Currently, family history is not systematically integrated ...
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Article
Open AccessTelomeres are shorter in myocardial infarction patients compared to healthy subjects: correlation with environmental risk factors
Shorter telomeres have been reported in premature myocardial infarction (MI) patients. Our work aimed at confirming the association of shorter telomere with MI in two case–control studies and in familial hyper...
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Article
Open AccessAPOE/C1/C4/C2 Gene Cluster Genotypes, Haplotypes and Lipid Levels in Prospective Coronary Heart Disease Risk Among UK Healthy Men
The role of common APOE variants on plasma lipids, particularly low density lipoprotein (LDL) levels, and coronary heart disease (CHD) risk is well known; the influence of variation in the other nearby apolipopro...
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Article
Open AccessHuman Genetic Evidence for Involvement of CD137 in Atherosclerosis
Atherosclerosis is an inflammatory disease and the main cause of cardiovascular disease. Inflammation promotes plaque instability and clinical disease, such as myocardial infarction, stroke and peripheral vasc...
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Article
Open AccessA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele ...
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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-...
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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
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
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 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 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 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
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 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...
