Steve E. Humphries

Research interests

Publications

• World Health Organization cardiovascular disease risk charts: revised models to estimate risk in 21 global regions

  The Lancet Global Health · 2019 · https://doi.org/10.1016/s2214-109x(19)30318-3

• An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

  Diabetes · 2017 · https://doi.org/10.2337/db16-1253

• Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

  Nature Communications · 2016 · https://doi.org/10.1038/ncomms11270

• PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

  The Lancet Diabetes & Endocrinology · 2016 · https://doi.org/10.1016/s2213-8587(16)30396-5

• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Nature Communications · 2016 · https://doi.org/10.1038/ncomms11491

• Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

  European Heart Journal · 2015 · https://doi.org/10.1093/eurheartj/ehv157

• Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

  Nature Genetics · 2015 · https://doi.org/10.1038/ng.3437

• The UK10K project identifies rare variants in health and disease

  Nature · 2015 · 10.1038/nature14962

• Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

  Nature Communications · 2015 · https://doi.org/10.1038/ncomms9111

• Mendelian randomization of blood lipids for coronary heart disease

  European Heart Journal · 2014 · https://doi.org/10.1093/eurheartj/eht571

• Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study

  The Lancet Diabetes & Endocrinology · 2014 · https://doi.org/10.1016/s2213-8587(14)70113-5

• Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

  European Heart Journal · 2014 · https://doi.org/10.1093/eurheartj/ehu274

• Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

  European Heart Journal · 2014 · https://doi.org/10.1093/eurheartj/ehu274

• Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

  BMJ · 2014 · https://doi.org/10.1136/bmj.g4164

• Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

  European Heart Journal · 2013 · https://doi.org/10.1093/eurheartj/eht273

• The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

  The Lancet Diabetes & Endocrinology · 2013 · https://doi.org/10.1016/s2213-8587(13)70191-8

• Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism

  Journal of the American College of Cardiology · 2012 · https://doi.org/10.1016/j.jacc.2012.01.078

• Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

  The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2011.12.022

• Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.866

• Fourth Joint Task Force of the European Society of Cardiology and other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts)

  European Journal of Cardiovascular Prevention & Rehabilitation · 2007 · https://doi.org/10.1097/01.hjr.0000277983.23934.c9

• Apo B versus cholesterol in estimating cardiovascular risk and in guiding therapy: report of the thirty‐person/ten‐country panel

  Journal of Internal Medicine · 2006 · https://doi.org/10.1111/j.1365-2796.2006.01616.x

• A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

  Atherosclerosis · 2003 · https://doi.org/10.1016/s0021-9150(02)00330-1

• Human CRP Gene Polymorphism Influences CRP Levels

  Arteriosclerosis Thrombosis and Vascular Biology · 2003 · https://doi.org/10.1161/01.atv.0000084640.21712.9c

• Angiotensin Converting Enzyme Insertion/Deletion Polymorphism Is Associated with Susceptibility and Outcome in Acute Respiratory Distress Syndrome

  American Journal of Respiratory and Critical Care Medicine · 2002 · https://doi.org/10.1164/rccm.2108086

• Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study

  The Lancet · 2001 · https://doi.org/10.1016/s0140-6736(01)05330-2

• Interleukin-6 Gene −174G>C and −572G>C Promoter Polymorphisms Are Strong Predictors of Plasma Interleukin-6 Levels After Coronary Artery Bypass Surgery

  Arteriosclerosis Thrombosis and Vascular Biology · 2001 · https://doi.org/10.1161/hq0901.094280

• Inflammation, obesity, stress and coronary heart disease: is interleukin-6 the link?

  Atherosclerosis · 2000 · https://doi.org/10.1016/s0021-9150(99)00463-3

• The ACE gene and muscle performance

  Nature · 2000 · https://doi.org/10.1038/35001141

• Human angiotensin I-converting enzyme gene and endurance performance

  Journal of Applied Physiology · 1999 · https://doi.org/10.1152/jappl.1999.87.4.1313

• Angiotensin-converting-enzyme gene insertion/deletion polymorphism and response to physical training

  The Lancet · 1999 · https://doi.org/10.1016/s0140-6736(98)07131-1

• Human gene for physical performance

  Nature · 1998 · https://doi.org/10.1038/30374

• The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis.

  Journal of Clinical Investigation · 1998 · https://doi.org/10.1172/jci2629

Current projects

No projects listed.