Bernard Keavney

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. ncbi Common genetic polymorphisms and coronary heart disease
    Bernard Keavney
    Institute of Human Genetics, Newcastle upon Tyne, England
    Semin Vasc Med 2:233-41. 2002
  2. pmc Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation
    Helen R Griffin
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 4:e4978. 2009
  3. pmc Common variation neighbouring micro-RNA 22 is associated with increased left ventricular mass
    Andrew R Harper
    Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 8:e55061. 2013
  4. ncbi Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Int J Epidemiol 35:935-43. 2006
  5. ncbi Lipid-related genes and myocardial infarction in 4685 cases and 3460 controls: discrepancies between genotype, blood lipid concentrations, and coronary disease risk
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Int J Epidemiol 33:1002-13. 2004
  6. ncbi Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 361:396-8. 2003
  7. ncbi Genetic epidemiological studies of coronary heart disease
    Bernard Keavney
    Institute of Human Genetics and Department of Cardiology, University of Newcastle upon Tyne, UK
    Int J Epidemiol 31:730-6. 2002
  8. ncbi The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertension
    Michelle Baker
    The Institute of Human Genetics, Newcastle University, UK
    Int J Epidemiol 36:1356-62. 2007
  9. ncbi Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene
    Helen Imrie
    Institute of Human Genetics, Central Parkway, Newcastle NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 91:5051-6. 2006
  10. ncbi A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot
    Judith A Goodship
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Circ Cardiovasc Genet 5:287-92. 2012

Collaborators

Detail Information

Publications39

  1. ncbi Common genetic polymorphisms and coronary heart disease
    Bernard Keavney
    Institute of Human Genetics, Newcastle upon Tyne, England
    Semin Vasc Med 2:233-41. 2002
    ....
  2. pmc Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation
    Helen R Griffin
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 4:e4978. 2009
    ..Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility...
  3. pmc Common variation neighbouring micro-RNA 22 is associated with increased left ventricular mass
    Andrew R Harper
    Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 8:e55061. 2013
    ..We thus investigated the relationship between common genetic polymorphisms surrounding miR-22 and left ventricular mass in a family-based association study...
  4. ncbi Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Int J Epidemiol 35:935-43. 2006
    ....
  5. ncbi Lipid-related genes and myocardial infarction in 4685 cases and 3460 controls: discrepancies between genotype, blood lipid concentrations, and coronary disease risk
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Int J Epidemiol 33:1002-13. 2004
    ..Various associations between CHD risk and genes that moderately affect plasma lipid levels have been described, but previous studies have typically involved too few 'cases' to assess these associations reliably...
  6. ncbi Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 361:396-8. 2003
    ..7). When differences in risk between different genotypes are not extreme (as with this APOE polymorphism), reliable assessment of hypothesised gene-environment interactions will often require the study of many thousands of disease cases...
  7. ncbi Genetic epidemiological studies of coronary heart disease
    Bernard Keavney
    Institute of Human Genetics and Department of Cardiology, University of Newcastle upon Tyne, UK
    Int J Epidemiol 31:730-6. 2002
  8. ncbi The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertension
    Michelle Baker
    The Institute of Human Genetics, Newcastle University, UK
    Int J Epidemiol 36:1356-62. 2007
    ..We hypothesized that a primary effect of AGT variants on arterial stiffness (and thus pulse pressure) might explain such heterogeneity, and tested for such an effect in a family study...
  9. ncbi Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene
    Helen Imrie
    Institute of Human Genetics, Central Parkway, Newcastle NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 91:5051-6. 2006
    ..However, the relative importance of polymorphisms in CYP11B1 and CYP11B2 in determining these phenotypes is unknown...
  10. ncbi A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot
    Judith A Goodship
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Circ Cardiovasc Genet 5:287-92. 2012
    ..In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified...
  11. pmc Genotype at the P554L variant of the hexose-6 phosphate dehydrogenase gene is associated with carotid intima-medial thickness
    Thahira J Rahman
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 6:e23248. 2011
    ..We performed a genetic association study in 854 members of 224 families to assess the relationship between polymorphisms in the gene coding for hexose-6 phosphate dehydrogenase (H6PD) and carotid intima-medial thickness...
  12. ncbi Common variation at the 11-β hydroxysteroid dehydrogenase type 1 gene is associated with left ventricular mass
    Thahira J Rahman
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Circ Cardiovasc Genet 4:156-62. 2011
    ..We assessed the association between polymorphisms in the HSD11B1 gene and left ventricular mass (LVM) in 248 families ascertained through a proband with hypertension...
  13. doi Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes
    Julian Palomino-Doza
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Hypertension 52:980-5. 2008
    ..Other suggestive associations were found, but these were nonsignificant after correction for multiple testing. These genetic data suggest that drugs affecting P2X receptor signaling may have promise as clinical antihypertensive agents...
  14. ncbi Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study
    Michelle Baker
    Institute of Human Genetics, Central Parkway, Newcastle NE1 3BZ, UK
    Diabetes 54:2492-6. 2005
    ..These data show that genetic variants at the POMC locus influence body fat distribution within the normal range, suggesting a novel role for POMC in metabolic regulation...
  15. pmc STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression
    Michael S Cunnington
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    BMC Med Genet 10:135. 2009
    ..However, other large studies have not implicated STK39 in hypertension. We determined whether reported SNPs influenced STK39 expression in vivo, or were associated with BP in a large British Caucasian cohort...
  16. doi Plasma potassium level is associated with common genetic variation in the beta-subunit of the epithelial sodium channel
    Nicole Gaukrodger
    Institute of Human Genetics, New Castle University, UK
    Am J Physiol Regul Integr Comp Physiol 294:R1068-72. 2008
    ..Interaction between the rs889299 SNP and functional SNPs in other genes influencing aldosterone-responsive distal tubular electrolyte transport may be important in the etiology of essential hypertension...
  17. pmc Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
    Helen R Griffin
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Heart 96:1651-5. 2010
    ..Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1...
  18. pmc INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families
    Darroch H Hall
    Institute of Human Genetics DH, TR, BK, and School of Mathematics and Statistics PJA, Newcastle University, UK
    BMC Med Genet 7:83. 2006
    ..We tested this polymorphism for association with body mass related phenotypes in a large family study whose mean BMI was consistent with moderate overweight...
  19. ncbi Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass
    Darroch Hall
    Institute of Human Genetics, Newcastle University, UK
    J Hypertens 29:690-5. 2011
    ..We examined the relationship between common genetic polymorphisms in the CD36 gene and left-ventricular mass...
  20. pmc Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot
    Julian Palomino Doza
    Institute of Genetic Medicine, Newcastle University, Newcastle, UK
    BMC Genet 14:57. 2013
    ..The aim of this study was to investigate the role of genetic variation in ROCK1 on the risk of TOF...
  21. pmc Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression
    Michael S Cunnington
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS Genet 6:e1000899. 2010
    ..Our study suggests that modulation of ANRIL expression mediates susceptibility to several important human diseases...
  22. ncbi Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle, UK
    J Clin Endocrinol Metab 90:1072-7. 2005
    ..Further fine-mapping studies across the CYP11B1 locus are required to localize the causative variant(s) for the biochemical phenotype; this may also identify susceptibility alleles for hypertension and left ventricular hypertrophy...
  23. pmc Prevalence of left ventricular dysfunction in a UK community sample of very old people: the Newcastle 85+ study
    Fahad Yousaf
    Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK
    Heart 98:1418-23. 2012
    ..We used domiciliary echocardiography to estimate the prevalence of LV systolic and diastolic dysfunction in 87-89 year olds and the proportion remaining undiagnosed...
  24. doi Genetic mechanisms mediating atherosclerosis susceptibility at the chromosome 9p21 locus
    Michael S Cunnington
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Curr Atheroscler Rep 13:193-201. 2011
    ..Investigation of potential disease mechanisms at this locus is therefore a focus of intense interest. In this review, we discuss the progress that has been made in the study of mechanisms and highlight the outstanding research questions...
  25. pmc High-throughput 13-parameter immunophenotyping identifies shifts in the circulating T-cell compartment following reperfusion in patients with acute myocardial infarction
    Jedrzej Hoffmann
    Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom
    PLoS ONE 7:e47155. 2012
    ..However, despite multiple trials, reperfusion injury has not been successfully dealt with so far. In mouse models, CD4(+) T lymphocytes (T cells) have been shown to be crucial instigators of reperfusion injury...
  26. pmc The interleukin-1 cluster, dyslipidaemia and risk of myocardial infarction
    Bernard Keavney
    BHF Professor of Cardiology, Institute of Human Genetics, Newcastle University, Newcastle, UK
    BMC Med 8:6. 2010
    ..See the associated research paper by Brown et al: http://www.biomedcentral.com/1741-7015/8/5...
  27. ncbi Commentary: Katan's remarkable foresight: genes and causality 18 years on
    Bernard Keavney
    University of Newcastle, Institute of Human Genetics, Central Parkway, Newcastle upon Tyne, UK
    Int J Epidemiol 33:11-4. 2004
  28. doi Assessment of a large panel of candidate biomarkers of ageing in the Newcastle 85+ study
    Carmen Martin-Ruiz
    Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK
    Mech Ageing Dev 132:496-502. 2011
    ..As future data accrues on health outcomes within the cohort, it will become possible also to evaluate the predictive value of these and others of the candidate biomarkers...
  29. doi Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
    Rachel Emma Dickinson
    Institute of Cellular Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
    Blood 118:2656-8. 2011
    ..This disorder therefore constitutes a new genetic form of heritable immunodeficiency and leukemic transformation...
  30. pmc An Induced Pluripotent Stem Cell Model of Hypoplastic Left Heart Syndrome (HLHS) Reveals Multiple Expression and Functional Differences in HLHS-Derived Cardiac Myocytes
    Yan Jiang
    Institute of Genetic Medicine and Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom Soochow University, Su Zhou, China Princess Al Jawhara Center of Excellence in Research, King Abdulaziz University, Jeddah, Saudi Arabia Centre for Biomedical Image Analysis, Faculty of Informatics, Masaryk University, Brno, Czech Republic Institute of Cardiovascular Science, Manchester Academic Health Science Centre, CoreTechnology Facility, Manchester, United Kingdom School of Biomedical Sciences, University of Durham, Durham, United Kingdom Department of Human Genetics, University of Kragujevac, Kragujevac, Serbia
    Stem Cells Transl Med 3:416-23. 2014
    ....
  31. ncbi Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk
    Alexander Thompson
    Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, England CB1 8RN
    JAMA 299:2777-88. 2008
    ..The importance of the cholesteryl ester transfer protein (CETP) pathway in coronary disease is uncertain. Study of CETP genotypes can help better understand the relevance of this pathway to lipid metabolism and disease risk...
  32. ncbi Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein
    Mark A Vickers
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, UK
    Cardiovasc Res 53:1029-34. 2002
    ..We hypothesised that plasma CRP would be a heritable phenotype that would be influenced by genotype at this polymorphism...
  33. pmc Correction of population stratification in large multi-ethnic association studies
    David Serre
    Genome Quebec Innovation Centre, McGill University, Montreal, Quebec, Canada
    PLoS ONE 3:e1382. 2008
    ..Unfortunately such a recruitment strategy is likely to complicate the study design and to generate concerns regarding population stratification...
  34. ncbi Association of apolipoprotein E genotypes with lipid levels and coronary risk
    Anna M Bennet
    Department of Public Health and Primary Care, University of Cambridge, Cambridge, England
    JAMA 298:1300-11. 2007
    ..Previous reviews of associations of apolipoprotein E (apoE) genotype and coronary disease have been dominated by smaller studies that are liable to biases...
  35. ncbi Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysis
    Bongani M Mayosi
    Department of Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom
    Stroke 36:2215-9. 2005
    ..We have used a family-based genetic association design to assess the heritability of carotid IMT and to investigate the hypothesized association of carotid IMT with the IL-6 to -174G/C polymorphism...
  36. pmc Angiotensin converting enzyme insertion or deletion polymorphism and coronary restenosis: meta-analysis of 16 studies
    Francois Bonnici
    Clinial Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Radcliffe Infirmary, Oxford OX2 6HE
    BMJ 325:517-20. 2002
    ..To assess the association between genotype at the insertion or deletion polymorphism of the angiotensin converting enzyme gene and risk of coronary restenosis after percutaneous coronary intervention...
  37. ncbi Toll the bell for another genetic association?
    Bernard Keavney
    Eur Heart J 27:2489-90. 2006
  38. ncbi Measured haplotype analysis of the aldosterone synthase gene and heart size
    Bongani M Mayosi
    Department of Cardiovascular Medicine, University of Oxford, The Wellcome Trust Centre for Human Genetics, Oxford, UK
    Eur J Hum Genet 11:395-401. 2003
    ..These results point to the importance of analysing the full extent of genetic variation that captures the haplotype structure of a locus in gene association studies...
  39. doi Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension
    Bongani M Mayosi
    Department of Medicine, University of Cape Town, J Floor Old Main Building, Groote Schuur Hospital, Anzio Road Observatory, Cape Town 7925, W Cape, South Africa
    Eur Heart J 29:525-30. 2008
    ..To localize chromosomal regions (or quantitative trait loci) that harbour genetic variants influencing the variability of electrocardiographic (ECG) and echocardiographic left ventricular hypertrophy (LVH)...