S E Humphries

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women
    Steve E Humphries
    Department of Medicine, Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, WC1E 6JF, UK
    J Mol Med (Berl) 84:1005-14. 2006
  2. pmc Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
    Marta Futema
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute Cardiovascular Science, University College London Medicine School, London WC1E 6JF, UK
    J Med Genet 49:644-9. 2012
  3. doi The genetics of coronary heart disease
    Daniel I Swerdlow
    Genetic Epidemiology Group, Department of Epidemiology and Public Health, UCL Institute of Epidemiology and Health Care, University College London, UK
    Br Med Bull 102:59-77. 2012
  4. pmc Angiotensin-converting enzyme genotype and late respiratory complications of mustard gas exposure
    Ali Reza Hosseini-Khalili
    UCL Institute for Human Health and Performance, Ground Floor, Charterhouse Building, UCL Archway Campus, Highgate Hill, Archway, London N19 5LW, UK
    BMC Pulm Med 8:15. 2008
  5. pmc Realising the potential of the family history in risk assessment and primary prevention of coronary heart disease in primary care: ADDFAM study protocol
    Nadeem Qureshi
    Division of Primary Care, University of Nottingham, Nottingham, UK
    BMC Health Serv Res 9:184. 2009
  6. ncbi Cardiovascular disease risk prediction using genetic information (gene scores): is it really informative?
    Steve E Humphries
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    Curr Opin Lipidol 19:128-32. 2008
  7. ncbi Analysis of the association of a heat shock protein70-1 gene promoter polymorphism with myocardial infarction and coronary risk traits
    M K Bolla
    Department of Medicine, University College London Medical School, Rayne Institute, UK
    Dis Markers 13:227-35. 1998
  8. ncbi Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study
    S E Humphries
    Centre for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, Rayne Institute, WC1E 6JJ, London, UK
    Lancet 358:115-9. 2001
  9. ncbi Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, The Royal Free and University College London Medical School, London, UK
    Clin Chem 55:2153-61. 2009
  10. ncbi Free Interleukin (IL)-18 levels, and the impact of IL18 and IL18BP genetic variation, in CHD patients and healthy men
    Simon R Thompson
    Cardiovascular Genetics, Rayne Institute, University College London, WC1E 6JF, UK
    Arterioscler Thromb Vasc Biol 27:2743-9. 2007

Collaborators

Detail Information

Publications174 found, 100 shown here

  1. ncbi Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women
    Steve E Humphries
    Department of Medicine, Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, WC1E 6JF, UK
    J Mol Med (Berl) 84:1005-14. 2006
    ..17) and haplotype frequencies differed markedly in this group. These results extend previous observations to other ethnic groups, and strongly confirm that TCF7L2 genotype is a major risk factor for development of T2D...
  2. pmc Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
    Marta Futema
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute Cardiovascular Science, University College London Medicine School, London WC1E 6JF, UK
    J Med Genet 49:644-9. 2012
    ..An autosomal recessive form of FH is also known, due to homozygous mutations in LDLRAP1. This study assessed the utility of an exome capture method and deep sequencing in FH diagnosis...
  3. doi The genetics of coronary heart disease
    Daniel I Swerdlow
    Genetic Epidemiology Group, Department of Epidemiology and Public Health, UCL Institute of Epidemiology and Health Care, University College London, UK
    Br Med Bull 102:59-77. 2012
    ..Recent major advances in genomic science and technology have opened new avenues of investigation in the pathogenesis of CHD, some of which are leading to clinical translation...
  4. pmc Angiotensin-converting enzyme genotype and late respiratory complications of mustard gas exposure
    Ali Reza Hosseini-Khalili
    UCL Institute for Human Health and Performance, Ground Floor, Charterhouse Building, UCL Archway Campus, Highgate Hill, Archway, London N19 5LW, UK
    BMC Pulm Med 8:15. 2008
    ..We hypothesized that the ACE genotype might influence the severity of late respiratory complications of mustard gas exposure...
  5. pmc Realising the potential of the family history in risk assessment and primary prevention of coronary heart disease in primary care: ADDFAM study protocol
    Nadeem Qureshi
    Division of Primary Care, University of Nottingham, Nottingham, UK
    BMC Health Serv Res 9:184. 2009
    ....
  6. ncbi Cardiovascular disease risk prediction using genetic information (gene scores): is it really informative?
    Steve E Humphries
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    Curr Opin Lipidol 19:128-32. 2008
    ..The efficacy of selected 'candidate' gene loci in risk algorithms, to improve the predictive accuracy for coronary heart disease, remains to be demonstrated...
  7. ncbi Analysis of the association of a heat shock protein70-1 gene promoter polymorphism with myocardial infarction and coronary risk traits
    M K Bolla
    Department of Medicine, University College London Medical School, Rayne Institute, UK
    Dis Markers 13:227-35. 1998
    ..37-0.40), and there was no association of genotype with BMI. Thus there appears to be no strong association of the Hsp70-1 promoter polymorphism with risk of myocardial infarction, BMI or any coronary disease traits analysed here...
  8. ncbi Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study
    S E Humphries
    Centre for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, Rayne Institute, WC1E 6JJ, London, UK
    Lancet 358:115-9. 2001
    ..We investigated whether the effect of smoking on coronary heart disease risk is affected by APOE genotype...
  9. ncbi Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, The Royal Free and University College London Medical School, London, UK
    Clin Chem 55:2153-61. 2009
    ..R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes...
  10. ncbi Free Interleukin (IL)-18 levels, and the impact of IL18 and IL18BP genetic variation, in CHD patients and healthy men
    Simon R Thompson
    Cardiovascular Genetics, Rayne Institute, University College London, WC1E 6JF, UK
    Arterioscler Thromb Vasc Biol 27:2743-9. 2007
    ..To investigate free interleukin-18 (fIL-18) levels, and variation within the IL-18 system genes, in heart surgery patients, and healthy men...
  11. ncbi Candidate gene genotypes, along with conventional risk factor assessment, improve estimation of coronary heart disease risk in healthy UK men
    Steve E Humphries
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, United Kingdom
    Clin Chem 53:8-16. 2007
    ..We therefore investigated whether inclusion of a set of common variants in candidate genes along with conventional risk factor (CRF) assessment enhanced coronary heart disease (CHD)-risk algorithms...
  12. ncbi Analysis of gene-environment interaction in coronary artery disease
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London, UK
    Ital Heart J 3:3-5. 2002
  13. ncbi Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, Rayne Building, 5 University Street, London WC1E 6JJ, UK
    J Mol Med (Berl) 84:203-14. 2006
    ..This supports the usefulness of DNA testing to confirm diagnosis of FH for the treatment of hyperlipidaemia and for further cascade screening...
  14. ncbi Loci for CETP, LPL, LIPC, and APOC3 affect plasma lipoprotein size and sub-population distribution in Hispanic and non-Hispanic white subjects: the Columbia University BioMarkers Study
    S E Humphries
    Division of Cardiovascular Genetics, Dept of Medicine, UCL Medical School, Rayne Institute, University Street, London WC1E 6JJ, UK
    Nutr Metab Cardiovasc Dis 12:163-72. 2002
    ..The effect of genetic variation on plasma lipoproteins and their subfraction distribution was examined...
  15. ncbi Interaction between smoking and the stromelysin-1 (MMP3) gene 5A/6A promoter polymorphism and risk of coronary heart disease in healthy men
    S E Humphries
    Centre for Cardiovascular Genetics, Department of Medicine, University College London Medical School, Rayne Institute, 5 University St, London WC1E 6JJ, UK
    Ann Hum Genet 66:343-52. 2002
    ..Men with the stromelysin genotype 5A5A represent 29% of the general population, and their high risk, if smokers, provides a further strong argument for smoking avoidance...
  16. ncbi Genetic risk factors for stroke and carotid atherosclerosis: insights into pathophysiology from candidate gene approaches
    Steve E Humphries
    BHF Laboratories, Department of Medicine, Royal Free and University College London, UK
    Lancet Neurol 3:227-35. 2004
    ..In this review, we assess the robustness of these associations and examine whether there is any evidence of risk modification by factors, such as smoking...
  17. doi Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies
    L Nherera
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medicine School, London WC1E 6JF, UK
    Heart 97:1175-81. 2011
    ..To estimate the probabilistic cost-effectiveness of cascade screening methods in familial hypercholesterolaemia (FH) from the UK NHS perspective...
  18. ncbi Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study
    P J Talmud
    Center for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, London, United Kingdom
    Pediatrics 108:E50. 2001
    ..To examine the genotype:phenotype association in children compared with their parents...
  19. ncbi Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Loboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WCIE 6JJ, UK
    Ann Hum Genet 66:111-24. 2002
    ....
  20. pmc APOE, CETP and LPL genes show strong association with lipid levels in Greek children
    M C Smart
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    Nutr Metab Cardiovasc Dis 20:26-33. 2010
    ....
  21. ncbi Human CRP gene polymorphism influences CRP levels: implications for the prediction and pathogenesis of coronary heart disease
    D J Brull
    Centre for Cardiovascular Genetics, BHF Laboratories at UCL, Royal Free and UCL Medical School, London, UK
    Arterioscler Thromb Vasc Biol 23:2063-9. 2003
    ..C-reactive protein (CRP) concentrations are predictive of cardiovascular disease, and levels are heritable, in part. We identified novel polymorphisms in the CRP gene and assessed their influence on CRP level...
  22. pmc Haplotype and genotype effects of the F7 gene on circulating factor VII, coagulation activation markers and incident coronary heart disease in UK men
    G Ken-Dror
    Centre for Cardiovascular Genetics, BHF Laboratories, The Rayne Building, Department of Medicine, Royal Free and University College Medical School, London, UK
    J Thromb Haemost 8:2394-403. 2010
    ..We examined whether F7 tagging SNPs (tSNPs) and haplotypes were associated with FVII levels, coagulation activation markers (CAMs) and CHD risk in two cohorts of UK men...
  23. ncbi Genetic determination of plasma lipids and insulin in the Czech population
    J A Hubacek
    Cardiovascular Genetic, Rayne Institute, Department of Medicine, Royal Free and University College London Medical School, WC1E 6JJ, London, England
    Clin Biochem 34:113-8. 2001
    ..To evaluate the association between plasma lipids and insulin and variation in the genes for apolipoproteins (APO) E (CfoI), B (insertion/deletion), C1 (HpaI), and C3 (C-482T, C3238G) in a population-based Czech Slavonic study...
  24. ncbi W64R mutation in beta-3-adrenergic receptor gene and weight in a large population sample
    S D O'Dell
    Department of Medicine, University College London Medical School, The Rayne Institute, UK
    Int J Obes Relat Metab Disord 22:377-9. 1998
    ..The W64R heterozygous state appears not to be a major contributing factor to obesity in the general population...
  25. ncbi Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding
    B Dorfmeister
    Department of Medicine, Division of Cardiovascular Genetics, UCL, London, UK
    Arterioscler Thromb Vasc Biol 28:1866-71. 2008
    ..The purpose of this study was to identify rare APOA5 variants in 130 severe hypertriglyceridemic patients by sequencing, and to test their functionality, since no patient recall was possible...
  26. ncbi The interleukin-6 -174 G/C promoter polymorphism is associated with risk of coronary heart disease and systolic blood pressure in healthy men
    S E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and University College London Medical School, London, UK
    Eur Heart J 22:2243-52. 2001
    ..K. men...
  27. ncbi IL-6-174G/C genotype is associated with the bone mineral density response to oestrogen replacement therapy in post-menopausal women
    L James
    Department of Orthopaedic Surgery, University College London NHS Trust, Mortimer Street, London, W1N 8AA, UK
    Eur J Appl Physiol 92:227-30. 2004
    ..04)] Although the study was limited by its small sample size, these are the first data to demonstrate the importance of IL-6 genotype in determining response to oestrogen therapy, rather than its physiological withdrawal...
  28. ncbi Contribution of apolipoprotein C-III gene variants to determination of triglyceride levels and interaction with smoking in middle-aged men
    D M Waterworth
    Division of Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College London, UK
    Arterioscler Thromb Vasc Biol 20:2663-9. 2000
    ..Analysis in this large group of healthy men has allowed the identification of a statistically robust APOC3 genotype-smoking interaction, which now warrants further molecular study...
  29. ncbi Effect of microsomal triglyceride transfer protein gene variants (-493G > T, Q95H and H297Q) on plasma lipid levels in healthy middle-aged UK men
    P J Talmud
    Centre for Cardiovascular Genetics, Dept Medicine, Royal Free and University College Medical School, London, UK
    Ann Hum Genet 64:269-76. 2000
    ....
  30. ncbi Variable effects of the APOC3-482C > T variant on insulin, glucose and triglyceride concentrations in different ethnic groups
    D M Waterworth
    Centre for Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College, London, UK
    Diabetologia 44:245-8. 2001
    ..We evaluated the effect of this variant in different ethnic groups with different rates of Type II (non-insulin-dependent) diabetes mellitus and coronary heart disease...
  31. ncbi Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial
    Y Jamshidi
    Centre for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, The Rayne Institute, London, UK
    Atherosclerosis 163:183-92. 2002
    ....
  32. ncbi The significant increase in cardiovascular disease risk in APOEepsilon4 carriers is evident only in men who smoke: potential relationship between reduced antioxidant status and ApoE4
    P J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Rayne Building, University College London, 5 University St, London WC1E 6JF, United Kingdom
    Ann Hum Genet 69:613-22. 2005
    ....
  33. ncbi Interaction of the cholesteryl ester transfer protein I405V polymorphism with alcohol consumption in smoking and non-smoking healthy men, and the effect on plasma HDL cholesterol and apoAI concentration
    V Gudnason
    Department of Medicine, University College London Medical School, Rayne Institute, UK
    Clin Genet 51:15-21. 1997
    ..On the basis of prospective studies carried out on the Icelandic population, non-smoking, alcohol-consuming men who are homozygous for the V405 allele could have from 32% to 40% lower risk of having a heart attack...
  34. ncbi INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects
    A J P Smith
    Department of Medicine, Centre for Cardiovascular Genetics, University College London, London, UK
    Int J Obes (Lond) 31:1753-5. 2007
    ..This suggests that, at the least, the true size of the effect on obesity of this SNP is likely to be considerably less than reported previously...
  35. ncbi Family history is a coronary heart disease risk factor in the Second Northwick Park Heart Study
    E Hawe
    Centre for Cardiovascular Genetics, Dept Medicine, Royal Free and University College London Medical School, Rayne Institute, UK
    Ann Hum Genet 67:97-106. 2003
    ..001. These data demonstrate the complex interaction between genetic and environmental factors in determining CHD risk, and suggest that the causes of the familial clustering of CHD remain largely unexplained...
  36. ncbi EPCR Ser219Gly: elevated sEPCR, prothrombin F1+2, risk for coronary heart disease, and increased sEPCR shedding in vitro
    H Ireland
    Cardiovascular Genetics, Department Medicine, University College London, 5 University St, London, WC1E 6JF, UK
    Atherosclerosis 183:283-92. 2005
    ..The increased CHD-risk and thrombin generation appears to be acting through increased shedding of the Gly allele from the cell surface...
  37. ncbi Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men
    D M Waterworth
    Division of Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College London, London, UK
    Biochim Biophys Acta 1637:200-6. 2003
    ..The finding of an elevated 30-min NEFA may be an important mechanistic link between triglyceride-rich lipoprotein (TRL) metabolism and glucose homeostasis...
  38. ncbi Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension
    Yalda Jamshidi
    Centre for Cardiovascular Genetics, Department of Medicine, University College London Medical School, London, UK
    Circulation 105:950-5. 2002
    ....
  39. ncbi Angiotensin-converting enzyme genotype interacts with systolic blood pressure to determine coronary heart disease risk in healthy middle-aged men
    Amal Muthumala
    Centre for Cardiovascular Genetics, Royal Free and UCL Medical School, The Rayne Institute, London, UK
    Hypertension 50:348-53. 2007
    ..78 [1.30 to 2.45]). Thus in the presence of hypertension, common variation in "modifier" genes confers significant CHD risk...
  40. ncbi Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia
    A Taylor
    Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK
    Clin Genet 71:561-8. 2007
    ..Results can be obtained within a week of sample receipt, and the high detection rate and good specificity make this a useful initial DNA diagnostic test for UK patients...
  41. ncbi Relationship between markers of activated coagulation, their correlation with inflammation, and association with coronary heart disease (NPHSII)
    G J Miller
    MRC Cardiovascular Research Group, Wolfson Institute for Preventive Medicine, London, UK
    J Thromb Haemost 6:259-67. 2008
    ..To determine whether activation of coagulation increases in parallel with inflammation and whether coagulation activation markers (CAMs) are independently associated with coronary heart disease (CHD), in the prospective study, NPHSII...
  42. pmc Genetic variation within IL18 is associated with insulin levels, insulin resistance and postprandial measures
    M C Smart
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    Nutr Metab Cardiovasc Dis 21:476-84. 2011
    ..IL-18 expression is up-regulated in atherosclerotic plaques, and higher levels are seen in obese and Type 2 Diabetic individuals. More recently, a possible role for IL-18 in glucose and energy homeostasis has been suggested...
  43. ncbi Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity: an index of compliance
    D J Brull
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and UCL Medical School, London, United Kingdom
    Hypertension 38:444-8. 2001
    ..We report an association between the COL1A1 gene polymorphism and arterial compliance. Alterations in arterial collagen type 1A deposition may play a role in the regulation of arterial compliance...
  44. ncbi Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study
    Francesco Zito
    Centre for Cardiovascular Genetics, Royal Free and University College London Medical School, London WC1E 6JJ, UK
    Atherosclerosis 165:153-8. 2002
    ..To evaluate the contribution of the 46C>T polymorphism of the Factor XII (FXII) gene to risk for coronary heart disease (CHD) in the West of Scotland Coronary Prevention Study (WOSCOPS) of men with high cholesterol...
  45. ncbi Substitution of asparagine for aspartic acid at residue 9 (D9N) of lipoprotein lipase markedly augments risk of ischaemic heart disease in male smokers
    P J Talmud
    Department of Medicine, Division of Cardiovascular Genetics, Royal Free and University College Medical School, Rayne Institute, 5 University Street, London, UK
    Atherosclerosis 149:75-81. 2000
    ..Carriers of N9 appear to be especially vulnerable to the adverse effects of cigarette smoking on IHD risk, but this susceptibility is unrelated to the influence of this variant on plasma TG levels...
  46. ncbi Genetic and environmental determinants of plasma nitrogen oxides and risk of ischemic heart disease
    N Jeerooburkhan
    Centre for Cardiovascular Genetics, Centre for Clinical Pharmacology, University College London Medical School, Rayne Institute, London WC1E 6JJ, UK
    Hypertension 38:1054-61. 2001
    ....
  47. pmc Variants of ADRA2A are associated with fasting glucose, blood pressure, body mass index and type 2 diabetes risk: meta-analysis of four prospective studies
    P J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, 5 University St, London, WC1E 6JF, UK
    Diabetologia 54:1710-9. 2011
    ..We quantified the effect of ADRA2A (encoding α-2 adrenergic receptor) variants on metabolic traits and type 2 diabetes risk, as reported in four studies...
  48. ncbi The effect of fibrinogen genotype on fibrinogen levels after strenuous physical exercise
    D J Brull
    Department of Medicine, Royal Free and UCL Medical School, UK
    Thromb Haemost 87:37-41. 2002
    ..Thus the fibrinogen -455G>A polymorphism influences fibrinogen levels following exercise. The effect of genotype might be clinically relevant at times of hyperfibrinogenaemia such as following an acute inflammatory response...
  49. ncbi Common adiponectin gene variants show different effects on risk of cardiovascular disease and type 2 diabetes in European subjects
    D R Gable
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, 5 University Street, London WC1E 6JF, UK
    Ann Hum Genet 71:453-66. 2007
    ..Their influence on risk depends significantly on interactions that are not currently understood with either genetic variation elsewhere or the environment of the sample studied...
  50. ncbi The -344T>C promoter variant of the gene for aldosterone synthase (CYP11B2) is not associated with cardiovascular risk in a prospective study of UK healthy men
    J R Payne
    British Heart Foundation Laboratories, Centre for Cardiovascular Genetics, Royal Free and University College Medical School, Rayne Building, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 174:81-6. 2004
    ..As locally synthesised aldosterone is a potential mediator of CAD, we have sought an association of the -344T>C variant of the aldosterone synthase (CYP11B2) gene with CAD events...
  51. ncbi Lp-PLA2 activity and PLA2G7 A379V genotype in patients with diabetes mellitus
    P T E Wootton
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, Rayne Building, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 189:149-56. 2006
    ..The association of Lp-PLA2 activity with oxLDL/LDL suggests that Lp-PLA2 may be a modulating factor in the process of atherosclerosis...
  52. pmc Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, London WC1E 6JF, UK
    Am J Hum Genet 85:628-42. 2009
    ..These genes provide further insights into lipid metabolism and the likely effects of modifying the encoded targets therapeutically...
  53. ncbi Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges
    Steve Martin
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, WC1E 6JF, London, UK
    Biochim Biophys Acta 1637:217-25. 2003
    ..Our results strongly support the role of APOA5 in determining plasma TG levels in an age-independent manner and highlight the importance of the APOC3/A4/A5 gene cluster in both TG and metabolic homeostasis...
  54. ncbi Human paraoxonase gene cluster polymorphisms as predictors of coronary heart disease risk in the prospective Northwick Park Heart Study II
    Kirsty S Robertson
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WC1E 6JF, UK
    Biochim Biophys Acta 1639:203-12. 2003
    ..004). These effects were independent of classical risk factors. These data demonstrate the importance of stratifying by environmental factors and the use of multiple SNPs for genetic analysis...
  55. ncbi Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels
    Wai Man R Wong
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, UK
    Circ Res 92:969-75. 2003
    ..90+/-0.12 mg/dL) (P=0.035). These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV...
  56. ncbi Insight into the nature of the CRP-coronary event association using Mendelian randomization
    Juan P Casas
    Centre for Clinical Pharmacology, Department of Medicine, BHF Laboratories at University College London, UCL, London, UK
    Int J Epidemiol 35:922-31. 2006
    ..Since the distribution of this polymorphism occurs at random during gamete formation, its association with coronary events should not be biased or confounded...
  57. pmc APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men
    Gie Ken-Dror
    Centre for Cardiovascular Genetics, BHF Laboratories, The Rayne Building, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London, United Kingdom
    Mol Med 16:389-99. 2010
    ..While the common APOE polymorphism explains the majority of the locus genetic determinants of plasma lipid levels, additional SNPs in the APOC1/C2 region may contribute to CHD risk, but these effects require confirmation...
  58. ncbi The impact of ACE genotype on serum ACE activity in a black South African male population
    J R Payne
    Centre for Cardiovascular Genetics, University College London, UK
    Ann Hum Genet 71:1-7. 2007
    ..As such, it cannot be used as a marker of ACE activity in these subjects. In this regard the use of the A22982G gene variant may be more appropriate...
  59. ncbi Candidate gene association studies in abdominal aortic aneurysm disease: a review and meta-analysis
    A R Thompson
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, 5 University Street, London WC1E 6JF, UK
    Eur J Vasc Endovasc Surg 35:19-30. 2008
    ..Candidate gene analysis has been frequently used in attempts to understand the pathological processes involved in many aspects of AAA disease...
  60. ncbi Association between the Ala379Val variant of the lipoprotein associated phospholipase A2 and risk of myocardial infarction in the north and south of Europe
    A M Abuzeid
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WC1E 6JJ, UK
    Atherosclerosis 168:283-8. 2003
    ....
  61. ncbi Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS)
    S E Humphries
    Centre for Genetics of Cardiovascular Disorders, Department of Medicine, UCL Medical School, The Rayne Institute, London, England, UK
    Arterioscler Thromb Vasc Biol 18:526-34. 1998
    ....
  62. ncbi The effect of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene on homocysteine levels in elderly men and women from the British regional heart study
    V Dekou
    Cardiovascular Genetics, Department of Medicine, University College London Medical School, The Rayne Institute, 5 University Street, WC1E 6JJ, London, UK
    Atherosclerosis 154:659-66. 2001
    ..These observations may have a bearing on regional differences in tHcy levels and the variation in CHD risk between regions in the UK...
  63. ncbi Polymorphisms in the thrombopoietin gene are associated with risk of myocardial infarction at a young age
    K E Webb
    Centre for Cardiovascular Genetics, Royal Free and University College Medical School, University College London, The Rayne Institute, 5, University Street, WC1E 6JJ, London, UK
    Atherosclerosis 154:703-11. 2001
    ....
  64. ncbi Lipoprotein (a) as a predictor of myocardial infarction in middle-aged men
    M Seed
    Department of Vascular Medicine (MS, Charing Cross Hospital, National Heart and Lung Institute Division of Imperial College School of Medicine, England, London, United Kingdom
    Am J Med 110:22-7. 2001
    ..01) difference in risk between the three levels of Lp(a). CONCLUSIONS: We found that a high Lp(a) level was an independent predictor of the development of coronary heart disease in middle-aged men...
  65. pmc Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes
    D X Pang
    BHF Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, United Kingdom
    Nutr Metab Cardiovasc Dis 23:550-6. 2013
    ..An islet-specific functional polymorphism has been identified, although this does not explain the association between genotype and gene expression in other cell types. This study sought to identify these other functional TCF7L2 variants...
  66. ncbi The endothelial nitric oxide synthase (Glu298Asp and -786T>C) gene polymorphisms are associated with coronary in-stent restenosis
    A H Gomma
    National Heart and Lung Institute, Royal Brompton Hospital, Imperial College of Science, Technology and Medicine, London, UK
    Eur Heart J 23:1955-62. 2002
    ..We have conducted a prospective study to examine the involvement of genetic risk factors (eNOS, ACE, MMP-3, IL-6, and PECAM-1) in restenosis following coronary stent deployment...
  67. ncbi The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels: prospective risk of type 2 diabetes. Results from the Northwick Park Heart Study II
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London, WC1E 6JF, UK
    Diabetologia 49:2337-40. 2006
    ....
  68. ncbi Polymorphisms in the angiotensin converting enzyme gene and growth in the first year of life
    P C Hindmarsh
    Centre for Human Growth and Maturation, Institute of Child Health, London, UK
    Ann Hum Genet 71:176-84. 2007
    ....
  69. ncbi Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Tec
    S E Humphries
    Department of Medicine, University College of London Medical School, Rayne Institute, UK
    Clin Chem 43:427-35. 1997
    ..The application of these techniques to screen for mutations in the LDL receptor gene in patients with familial hypercholesterolemia are described...
  70. ncbi The 4G/5G genetic polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene is associated with differences in plasma PAI-1 activity but not with risk of myocardial infarction in the ECTIM study. Etude CasTemoins de I'nfarctus du M
    S Ye
    Department of Medicine, University College London Medical School, UK
    Thromb Haemost 74:837-41. 1995
    ..Thus homozygosity for the 4G allele may predispose to elevated PAI-1 and impaired fibrinolysis, perhaps requiring interaction with other genetic or environmental factors to influence MI risk...
  71. pmc Impact of angiotensin converting enzyme inhibition on post-coronary artery bypass interleukin 6 release
    D J Brull
    UCL Centre for Cardiovascular Genetics, Rayne Institute, London, UK Department of Medicine, Glasgow Royal Infirmary, Glasgow, UK
    Heart 87:252-5. 2002
    ..Angiotensin 1 converting enzyme (ACE) inhibitors reduce morbidity and mortality after coronary artery bypass graft surgery (CABG). This benefit may result from an anti-inflammatory action...
  72. ncbi Linkage of the cholesteryl ester transfer protein (CETP) gene to LDL particle size: use of a novel tetranucleotide repeat within the CETP promoter
    P J Talmud
    Centre for Genetics of Cardiovascular Disorders, Department of Medicine, UCL Medical School, The Rayne Institute, University Street, London, UK
    Circulation 101:2461-6. 2000
    ..CETP mediates the transfer of cholesteryl ester from HDL to apolipoprotein (apo) B-containing lipoproteins in exchange for TG, promoting reverse cholesterol transfer and remodeling of lipoprotein particles...
  73. ncbi The effect of the Interleukin-6-174G > C promoter gene polymorphism on endothelial function in healthy volunteers
    D J Brull
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Dept of Medicine, Royal Free and University College London Medical School, Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Eur J Clin Invest 32:153-7. 2002
    ..We have examined the effect of the IL6 gene -174G > C promoter polymorphism on endothelial function in a group of healthy subjects...
  74. ncbi Tagging-SNP haplotype analysis of the secretory PLA2IIa gene PLA2G2A shows strong association with serum levels of sPLA2IIa: results from the UDACS study
    Peter T E Wootton
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London WC1E 6JF, UK
    Hum Mol Genet 15:355-61. 2006
    ..The strong impact of PLA2G2A haplotypic variation on sPLA(2)IIa levels will help clarify the causality of this association...
  75. pmc Inflammation, insulin resistance, and diabetes--Mendelian randomization using CRP haplotypes points upstream
    Eric J Brunner
    Department of Epidemiology and Public Health, Royal Free and University College London Medical School, London, United Kingdom
    PLoS Med 5:e155. 2008
    ..Our objective was to examine the nature of the association between CRP phenotype and diabetes development using CRP haplotypes as instrumental variables...
  76. ncbi Common promoter variant in cyclooxygenase-2 represses gene expression: evidence of role in acute-phase inflammatory response
    Anastasia Papafili
    Centre for Respiratory Research, Department of Medicine, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Arterioscler Thromb Vasc Biol 22:1631-6. 2002
    ..Cyclooxygenase (COX)-2 is a key regulatory enzyme in the synthesis of prostanoids associated with trauma and inflammation. We investigated the COX-2 gene for functional variants that may influence susceptibility to disease...
  77. ncbi Association between periodontitis and common variants in the promoter of the interleukin-6 gene
    L Nibali
    Periodontology Unit, University College London, Eastman Dental Institute, London, UK
    Cytokine 45:50-4. 2009
    ..This association is stronger for LAgP than for other periodontal disease phenotypes...
  78. ncbi ApoCIII gene variants modulate postprandial response to both glucose and fat tolerance tests
    D M Waterworth
    Division of Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College London, UK
    Circulation 99:1872-7. 1999
    ..The apoCIII variations examined were C3238G (SstI) in the 3'-UTR, C1100T in exon 3, C-482T in the insulin response element (IRE), and T-2854G in the apoCIII-AIV intergenic region...
  79. ncbi Polymorphism of the heme oxygenase-1 gene and cerebral aneurysms
    L Morgan
    Victor Horsley Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK
    Br J Neurosurg 19:317-21. 2005
    ..However, because of the relatively small sample size and modest statistical significance, the data must be interpreted with caution and the association needs to be confirmed in further samples...
  80. ncbi Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
    A Taylor
    Great Ormond Street Hospital for Children, London, UK
    Clin Genet 77:572-80. 2010
    ..Even in subjects with a low clinical suspicion of FH, and in those of Indian origin, mutation testing has an acceptable detection rate...
  81. ncbi Interleukin-6 (IL-6) and the prognosis of abdominal aortic aneurysms
    K G Jones
    Department of Vascular Surgery, Imperial College at Charing Cross Hospital, Rayne Institute, London, UK
    Circulation 103:2260-5. 2001
    ..In explant culture, aneurysm biopsies secrete large amounts of interleukin-6 (IL-6), and among aneurysm patients, the circulating concentration of IL-6 appears to be increased...
  82. ncbi Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression
    S Ye
    Division of Cardiovascular Genetics, Department of Medicine, University College London Medical School, London WC1E 6JJ, United Kingdom
    J Biol Chem 271:13055-60. 1996
    ..Thus, the common 5A/6A polymorphism of the human stromelysin-1 promoter appears to play an important role in regulating stromelysin-1 gene expression and may be involved in the progression of coronary heart disease...
  83. ncbi Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
    F Mailly
    Department of Medicine, University College London Medical School, UK
    Hum Mutat 10:465-73. 1997
    ..Failure to identify the mutation in 11 alleles might reflect the inadequacy of the method or the possibility that mutations lie within regions of the gene not screened in the study because of lack of availability of sequence...
  84. ncbi Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23028 subjects
    Juan P Casas
    Centre for Clinical Pharmacology, BHF Laboratories at UCL, London, UK
    Circulation 109:1359-65. 2004
    ..To evaluate the role of polymorphisms in the eNOS gene in IHD, we considered all available studies in a meta-analysis...
  85. ncbi A common interleukin 18 haplotype is associated with higher body mass index in subjects with diabetes and coronary heart disease
    Simon R Thompson
    Department of Cardiovascular Genetics, The Rayne Institute, London, UK
    Metabolism 56:662-9. 2007
    ..Therefore, variation within IL18, previously shown to be associated with lower IL18 levels, is influencing measures of obesity both in men with type 2 diabetes mellitus and those with advanced coronary heart disease...
  86. pmc Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk
    Fotios Drenos
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University St, London WC1E 6JF, UK
    Hum Mol Genet 18:2305-16. 2009
    ..Broader and deeper integrated analyses, linking genomic with transcriptomic, proteomic and metabolomic analysis, as well as clinical events could, in principle, better delineate CHD causing pathways amenable to treatment...
  87. ncbi Interleukin-6 -174G>C polymorphism and risk of coronary heart disease in West of Scotland coronary prevention study (WOSCOPS)
    Federica Basso
    Centre for Cardiovascular Genetics, BHF Laboratories, Royal Free and University College London Medical School, London, UK
    Arterioscler Thromb Vasc Biol 22:599-604. 2002
    ..These results demonstrate the importance of the inflammatory system in determining the risk of CHD and support the nonlipid effect of statins on risk...
  88. ncbi The functional interaction on in vitro gene expression of APOA5 SNPs, defining haplotype APOA52, and their paradoxical association with plasma triglyceride but not plasma apoAV levels
    Jutta Palmen
    Division of Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK
    Biochim Biophys Acta 1782:447-52. 2008
    ..We conclude that APOA5 expression, and not circulating plasma apoAV levels, is causatively associated with plasma TG levels...
  89. ncbi C-reactive protein gene variant and the human left ventricular growth response to exercise: data from The LARGE Heart Study
    Jack J Mann
    Centre for Cardiovascular Genetics, BHF Laboratories, Royal Free and University CollegeMedical School, London, UK
    J Cardiovasc Pharmacol 55:26-9. 2010
    ..68 mg/L higher than carriers of the C allele...
  90. ncbi Association between IL6 gene variants -174G>C and -572G>C and serum IL-6 levels: interactions with social position in the Whitehall II cohort
    Saskia C Sanderson
    Department of Epidemiology and Public Health Whitehall II, 1 19 Torrington Place, University College London, London WC1E 6BT, UK
    Atherosclerosis 204:459-64. 2009
    ..To examine the impact of -174G>C and -572G>C variants in the promoter region of the IL6 gene, and their interactions with social position, on interleukin-6 (IL-6) levels in the Whitehall II cohort...
  91. ncbi Analysis of gene-environment interactions by "stressing-the-genotype" studies: the angiotensin converting enzyme and exercise-induced left ventricular hypertrophy as an example
    Hugh Montgomery
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London, UK
    Ital Heart J 3:10-4. 2002
    ..The use of these "stress-the-genotype" approaches to explore gene-environment interactions are likely to be the key to understanding the causes determining both coronary artery disease and other multi-factorial disorders...
  92. ncbi Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth
    David M Flavell
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, University College London, London, UK
    J Mol Med (Berl) 84:126-31. 2006
    ..Change in blood pressure accounted for a proportion of LV growth. These data suggest that increased myocardial FA availability may reduce exercise-induced LV growth...
  93. ncbi Vitamin D receptor genotypes influence quadriceps strength in chronic obstructive pulmonary disease
    Nicholas S Hopkinson
    Respiratory Muscle Laboratory, Royal Brompton Hospital, London, United Kingdom
    Am J Clin Nutr 87:385-90. 2008
    ..Its etiology is multifactorial, and evidence is growing that it is partly determined by genetic susceptibility...
  94. ncbi Pharmacogenetics: progress, pitfalls and clinical potential for coronary heart disease
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories Rayne Building, Royal Free and University College London Medical School, London WC1E 6JF, UK
    Vascul Pharmacol 44:119-25. 2006
    ..The full potential of this field will only be realised with much further work...
  95. ncbi The association of left ventricular mass with blood pressure, cigarette smoking and alcohol consumption; data from the LARGE Heart study
    John R Payne
    Centre for Cardiovascular Genetics, BHF Laboratories, Royal Free and University College Medical School, 5 University Street, London, UK
    Int J Cardiol 120:52-8. 2007
    ..The aim of this study was to examine the possible influence of lifestyle on left ventricular mass in a large group of young men...
  96. ncbi Genetic testing for cardiovascular disease susceptibility: a useful clinical management tool or possible misinformation?
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London, UK
    Arterioscler Thromb Vasc Biol 24:628-36. 2004
    ..Here we review some of the particular issues and concerns raised by CVD-risk genetic testing, and suggest areas of further research to address these issues...
  97. pmc Separating the mechanism-based and off-target actions of cholesteryl ester transfer protein inhibitors with CETP gene polymorphisms
    Reecha Sofat
    Centre for Clinical Pharmacology, Department of Medicine, University College London, London, United Kingdom
    Circulation 121:52-62. 2010
    ..We hypothesized that common single-nucleotide polymorphisms in the CETP gene could help distinguish mechanism-based from off-target actions of CETP inhibitors to inform on the validity of CETP as a therapeutic target...
  98. ncbi Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism: a randomized controlled trial with losartan
    S G Myerson
    Centre for Cardiovascular Genetics, University College London, London, UK
    Circulation 103:226-30. 2001
    ..We sought to confirm ACE genotype-associated exertional LV growth and to clarify the role of the AT(1) receptor in this association...
  99. ncbi The role of apolipoprotein E in cognitive decline after cardiac operation
    L Steed
    Department of Psychiatry and Behavioural Sciences, Centre for Cardiovascular Genetics, University College London, England
    Ann Thorac Surg 71:823-6. 2001
    ..The objective of the current study was to replicate this earlier work using an increased sample size. The increased sample also enabled an analysis by individual genotype in cognitive decline after coronary artery bypass grafting...
  100. ncbi Characterization of the lipid-binding properties and lipoprotein lipase inhibition of a novel apolipoprotein C-III variant Ala23Thr
    H Liu
    Cardiovascular Genetics Division, Department of Medicine, Royal Free and University College London Medical School, London WC1E 6JJ, UK
    J Lipid Res 41:1760-71. 2000
    ....
  101. ncbi Enhanced bridging function and augmented monocyte adhesion by lipoprotein lipase N9: insights into increased risk of coronary artery disease in N9 carriers
    Rachel M Fisher
    Department of Medicine, Royal Free and University College Medical School, Rayne Institute, 5 University Street, London WC1E 6JJ, UK
    Atherosclerosis 166:243-51. 2003
    ..Thus once on the cell surface, LPL-N9 enhances bridging, as assessed both by LDL binding and internalisation, and monocyte adhesion. This augmented LPL-N9 bridging provides a mechanism for the reported increased CAD risk in N9 carriers...