Steve E. Humphries
University College London
EndocrinologyGeneticsDiabetes mellitusMedicineBiology
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Publications 1197
#1Agnieszka Mickiewicz (Gdańsk Medical University)H-Index: 1
#2Marta Futema (UCL: University College London)H-Index: 13
Last. Milosz Jaguszewski (Gdańsk Medical University)H-Index: 8
view all 12 authors...
Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin. Methods: FH Individuals were tested for mutations in LDLR and APOB genes. A previously established LDL-C-specific polygenic risk score (PRS) was used to examine the possibil...
#1Sven W. Meckelmann (University of Duisburg-Essen)H-Index: 6
#2Jade I. Hawksworth (Cardiff University)H-Index: 2
Last. You Zhou (Cardiff University)H-Index: 18
view all 24 authors...
: Background - Common chromosome 9p21 SNPs increase coronary heart disease (CHD) risk, independent of "traditional lipid risk factors". However, lipids comprise large numbers of structurally related molecules not measured in traditional risk measurements, and many have inflammatory bioactivities. Here we applied lipidomic and genomic approaches to three model systems, to characterize lipid metabolic changes in common Chr9p21 SNPs which confer ~30% elevated CHD risk associated with altered expres...
#1Federica Laguzzi (KI: Karolinska Institutet)H-Index: 6
#2Damiano Baldassarre (University of Milan)H-Index: 35
Last. Elena TremoliH-Index: 63
view all 14 authors...
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 carotid intima-media thickness (C-IMT) measurements, and correlate this information with self-reported data on alcohol consumption. Between 2002–2004, 1772 men and 1931 women aged 54–79 years with at least three risk factors for cardiovascular disease (CVD) were recruited in Italy, France,...
#1C. Mariano (University of Lisbon)
#1Cibelle Mariano (University of Lisbon)H-Index: 1
Last. Mafalda Bourbon (University of Lisbon)H-Index: 17
view all 8 authors...
Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low-density lipoprotein cholesterol (LDL-C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40%-50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients. Between 1999 and 2017, 731 index patients (311 children and 420 adults) who met the Simon Broom...
#1Urszula Rykaczewska (Karolinska University Hospital)H-Index: 1
#1Urszula Rykaczewska (Karolinska University Hospital)H-Index: 1
Last. Ljubica Perisic Matic (KI: Karolinska Institutet)H-Index: 10
view all 29 authors...
Rationale: Proprotein convertase subtilisins/kexins (PCSKs) are a protease family with unknown functions in vasculature. Previously, we demonstrated PCSK6 upregulation in human atherosclerotic plaq...
3 CitationsSource
#1Roshni Joshi (UCL: University College London)
#2S. Goya Wannamethee (UCL: University College London)H-Index: 69
Last. Nishi Chaturvedi (UCL: University College London)H-Index: 20
view all 18 authors...
AimsElevated low-density lipoprotein cholesterol (LDL-C) is a risk factor for cardiovascular disease; however, there is uncertainty about the role of total triglycerides and the individual triglyce...
#1Alice BonomiH-Index: 9
#3Fabrizio VegliaH-Index: 57
Last. Bruna Gigante (KI: Karolinska Institutet)H-Index: 41
view all 14 authors...
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 identify genetic loci associated with circulating sgp130 and to explore the potential association between variants associated with sgp130 and markers of subclinical atherosclerosis. The study is based on IMPROVE (n = 3703), a cardiovascular multicentre study designed to investigate the det...
#1Uma Ramaswami (Royal Free Hospital)H-Index: 25
#2Marta Futema (UCL: University College London)H-Index: 13
Last. Steve E. Humphries (UCL: University College London)H-Index: 113
view all 15 authors...
Abstract Background and aims For children with heterozygous familial hypercholesterolaemia (HeFH), European guidelines recommend consideration of statin therapy by age 8–10 years for those with a low density lipoprotein cholesterol (LDL-C) >3.5 mmol/l, and dietary and lifestyle advice. Here we compare the characteristics and lipid levels in HeFH children from Norway, UK, Netherlands, Belgium, Czech Republic, Austria, Portugal and Greece. Methods Fully-anonymized data were analysed at the London ...
1 CitationsSource
#1Cibelle MarianoH-Index: 1
Last. Mafalda BourbonH-Index: 17
view all 8 authors...
#1Uma Ramaswami (Royal Free London NHS Foundation Trust)H-Index: 4
#2Steve E. Humphries (UCL: University College London)H-Index: 113
Last. Andrew A. M. Morris (University of Manchester)H-Index: 29
view all 9 authors...
Abstract This consensus statement on the management of children and young people with heterozygous familial hypercholesterolaemia (FH) addresses management of paediatric FH in the UK, identified by cascade testing when a parent is diagnosed with FH and for those diagnosed following incidental lipid tests. Lifestyle and dietary advice appropriate for children with FH; suggested low density lipoprotein cholesterol (LDL-C) targets and the most appropriate lipid-lowering therapies to achieve these a...
2 CitationsSource