Steve E. Humphries
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View article: The COPI coatomer regulates several steps of HDL metabolism
The COPI coatomer regulates several steps of HDL metabolism Open
Background Reverse cholesterol transport by high density lipoproteins (HDL) is considered as an anti-atherogenic metabolic pathway. Hepatocytes determine the efficacy of this pathway by the production of apolipoprotein A-I (apoA-I) and its…
View article: Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)
Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS) Open
Aims Familial hypercholesterolemia (FH) significantly increases cardiovascular risk from childhood yet remains widely underdiagnosed. This cross-sectional study aimed to evaluate existing paediatric FH diagnostic criteria in real-world coh…
View article: Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing Open
Patient experiences of receiving AFs were primarily positive and there is support for offering AFs routinely. Considerations for offering AFs in clinical practice include adapting approaches tailored to individual conditions and greater su…
View article: Genetic Determinants of the Familial Hypercholesterolaemia Phenotype
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype Open
Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the developmen…
View article: Influence of Common Gene Variants on Lipid Levels and Risk of Coronary Heart Disease in Afro-Caribbeans
Influence of Common Gene Variants on Lipid Levels and Risk of Coronary Heart Disease in Afro-Caribbeans Open
A lower mortality rate from coronary artery disease (CAD) and a more favourable lipid profile have been reported in Afro-Caribbeans compared with people of European ancestry. The aim of this study was to determine whether common lipid vari…
View article: Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families?
Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families? Open
Purpose of review Universal Screening programmes to identify subjects with familial hypercholesterolaemia (FH) have been the subject of much recent interest. However, any screening programme can cause harm as well as having potential benef…
View article: Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials
Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials Open
Statins, ezetimibe and statins-ezetimibe are all effective treatments for children with HeFH, but the magnitude of LDL-C reductions varies and may depend on treatment dosage and combination. No safety or tolerability issues were found. Lon…
View article: Challenges and opportunities for identifying people with familial hypercholesterolemia in the UK: Evidence from the National FH PASS database
Challenges and opportunities for identifying people with familial hypercholesterolemia in the UK: Evidence from the National FH PASS database Open
In Wales and Wessex less than a third of relatives of an index are tested for FH. Improvements are likely possible by integrating geographically dispersed families into cascade testing, services directly contacting relatives where possible…
View article: Variants in LPA are associated with mutation-negative Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project
Variants in LPA are associated with mutation-negative Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project Open
View article: Update on the United Kingdom Paediatric FH Register: Working towards new evidence on when children with Familial Hypercholesterolaemia should start lipid lowering therapies
Update on the United Kingdom Paediatric FH Register: Working towards new evidence on when children with Familial Hypercholesterolaemia should start lipid lowering therapies Open
View article: Polymorphic Assessment of the Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Variant Rs11591147 in Relation to Coronary Artery Disease in Pakistani Subjects
Polymorphic Assessment of the Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Variant Rs11591147 in Relation to Coronary Artery Disease in Pakistani Subjects Open
Coronary artery disease (CAD) is caused by the narrowing of coronary arteries because of plaque formation in response to multiple genetic and environmental factors. Many genetic markers associated with CAD susceptibility have been identifi…
View article: Prediction of individual lifetime cardiovascular risk and potential treatment benefit: development and recalibration of the LIFE-CVD2 model to four European risk regions
Prediction of individual lifetime cardiovascular risk and potential treatment benefit: development and recalibration of the LIFE-CVD2 model to four European risk regions Open
Aims The 2021 European Society of Cardiology prevention guidelines recommend the use of (lifetime) risk prediction models to aid decisions regarding initiation of prevention. We aimed to update and systematically recalibrate the LIFEtime-p…
View article: Targeting better safety: next steps for CRISPR therapeutics
Targeting better safety: next steps for CRISPR therapeutics Open
This presentation contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 that involve substantial risks and uncertainties, including statements regarding the safety, tolerability, a…
View article: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study Open
View article: How many FH genetic tests were performed by the UK Genetic Laboratory Hubs in 2022?
How many FH genetic tests were performed by the UK Genetic Laboratory Hubs in 2022? Open
View article: How many individuals with Familial Hypercholesterolaemia (FH) need to be identified to achieve the NHS 2019 Long Term Plan ambition?
How many individuals with Familial Hypercholesterolaemia (FH) need to be identified to achieve the NHS 2019 Long Term Plan ambition? Open
View article: Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank
Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank Open
View article: Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis Open
Background Cascade testing the relatives of people with familial hypercholesterolaemia is an efficient approach to identifying familial hypercholesterolaemia. The cascade-testing protocol starts with identifying an index patient with famil…
View article: Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank Open
Background Most people with autosomal dominant familial hypercholesterolaemia (FH) remain undetected, which represents a missed opportunity for coronary heart disease prevention. Objective To evaluate the performance of two-stage adult pop…
View article: Variants in LPA are associated with mutation-negative familial hypercholesterolaemia: Genome wide association study in the 100,000 genomes project
Variants in LPA are associated with mutation-negative familial hypercholesterolaemia: Genome wide association study in the 100,000 genomes project Open
View article: Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank—Brief Report
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank—Brief Report Open
Background: Familial hypercholesterolemia (FH) is a monogenic disease that causes high low-density lipoprotein cholesterol (LDL-C) and higher risk of premature coronary heart disease. The prevalence of FH-causing variants and their associa…
View article: A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia Open
View article: Hemin-driven chromatin remodelling by atherosclerotic risk gene<i>SMARCA4</i>switches human blood-derived macrophages from leukocyte disposal to erythrocyte disposal
Hemin-driven chromatin remodelling by atherosclerotic risk gene<i>SMARCA4</i>switches human blood-derived macrophages from leukocyte disposal to erythrocyte disposal Open
Background Putative genetic risk loci for atherosclerotic vascular disease include SMARCA4 , a chromatin remodeling gene important for gene activation. Its causal role in atherosclerosis has been uncertain. Intraplaque hemorrhage (IPH) is …
View article: Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study
Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study Open
Background: Smoking is associated with carotid intima-media thickness (C-IMT). However, knowledge about how genetics may influence this association is limited. We aimed to perform nonhypothesis driven gene-smoking interaction analyses to i…
View article: How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis
How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis Open
View article: Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis
Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis Open
View article: How should high cholesterol, mutation negative children, identified through the child-parent screening project be managed?
How should high cholesterol, mutation negative children, identified through the child-parent screening project be managed? Open
View article: A machine learning model to aid detection of familial hypercholesterolaemia
A machine learning model to aid detection of familial hypercholesterolaemia Open
2. TEXT ABSTRACT AND KEYWORDS Background and Aims People with monogenic familial hypercholesterolaemia (FH) are at an increased risk of premature coronary heart disease and death. Currently there is no population screening strategy for FH,…
View article: LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank
LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank Open
Background : Monogenic familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) concentrations due to monogenic mutations in LDLR , APOB , PCSK9 , and APOE …
View article: Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care
Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care Open
Although familial hypercholesterolemia (FH) screening within primary care is considered cost-effective, which screening approach is cost-effective has not been established. This study determines the cost-effectiveness of six case-finding s…