12 Result(s)
within
Steve E. Humphries
Cardiology
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Chapter
Use of DNA technology in the diagnosis of occult atherosclerotic disease
Cardiovascular disease (CVD) is a major contributor to mortality in western industrialised countries [1]. Its principle cause is atherosclerosis, with clinical effects only becoming apparant after years of asy...
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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
Utility of genetic determinants of lipids and cardiovascular events in assessing risk
Genetic testing is an attractive tool for CHD risk prediction; however, the process of harnessing genetic information to improve population health is in its infancy. In this article, Dr Holmes and colleagues d...
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A genetic instrument for Mendelian randomization of fibrinogen
Mendelian randomization studies on fibrinogen commonly use a single genetic variant as an instrument, but this may explain only a small proportion of the total phenotypic variance. We examined the contribution...
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Article
Genetic Risk Factors and Mendelian Randomization in Cardiovascular Disease
Cardiovascular disease encompasses several diverse pathological states that place a heavy burden on individual and population health. The aetiological basis of many cardiovascular disorders is not fully unders...
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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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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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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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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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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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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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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...
