Research Topics
Genomes and Genes
| Mark J CaulfieldSummaryAffiliation: Queen Mary Country: UK Publications
| Collaborators
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Detail Information
Publications
Predicting deleterious nsSNPs: an analysis of sequence and structural attributesRichard J Dobson
Clinical Pharmacology, The William Harvey Research Institute, Bart s and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK
BMC Bioinformatics 7:217. 2006..We show that nsSNP function prediction can be significantly improved by 100% undersampling of the majority class. The learnt rules were then applied to make predictions of function on all nsSNPs within Ensembl...
Genome-wide mapping of human loci for essential hypertensionMark Caulfield
Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London, Queen Mary s School of Medicine, London, UK
Lancet 361:2118-23. 2003..We describe the results of a genome scan for hypertension in a large white European population...- SLC2A9 is a high-capacity urate transporter in humansMark J Caulfield
Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, United Kingdom
PLoS Med 5:e197. 2008..We investigated whether SLC2A9 is a functional urate transporter that contributes to the longstanding association between urate and blood pressure in man... - Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemiaChris Wallace
Clinical Pharmacology and The Genome Centre, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, EC1M 6BQ, UK
Am J Hum Genet 82:139-49. 2008..This finding provides a potential biological mechanism for the recent association of this same allele of the same SNP with increased risk of coronary disease... 
Impact of amlodipine-based therapy among older and younger patients in the Anglo-Scandinavian Cardiac Outcomes Trial-Blood Pressure Lowering Arm (ASCOT-BPLA)David J Collier
Barts and The London, Queen Mary s School of Medicine and Dentistry, UK
J Hypertens 29:583-91. 2011....- Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertensionChris Wallace
Clinical Pharmacology and The Genome Centre, The William Harvey Research Institute, Barts and The London, Queen Mary s School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK
Am J Hum Genet 79:323-31. 2006..This is the first identity-by-descent regression analysis of hypertension to our knowledge, and it demonstrates the value of this approach for the incorporation of additional phenotypic information in genetic studies of complex traits... - ADAMTS7 cleavage and vascular smooth muscle cell migration is affected by a coronary-artery-disease-associated variantXiangyuan Pu
William Harvey Research Institute, Queen Mary University of London, London, UK
Am J Hum Genet 92:366-74. 2013.... - Selection of candidate genes in hypertensionCharles A Mein
The Genome Centre and Clinical Pharmacology, The William Harvey Research Institute, Barts and The London, Charterhouse Square, London, UK
Methods Mol Med 108:107-29. 2005..We review the current state of play in these fields related to hypertension and show, with a particular example, how these data may help target genetic studies in the future... - Information capture using SNPs from HapMap and whole-genome chips differs in a sample of inflammatory and cardiovascular gene-centric regions from genome-wide estimatesChris Wallace
Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Bart s and The London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom
Genome Res 17:1596-602. 2007.... - Blood pressure loci identified with a gene-centric arrayToby Johnson
Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Am J Hum Genet 89:688-700. 2011.... - Influence of matrix metalloproteinase-12 on fibrinogen levelAnna Motterle
William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Atherosclerosis 220:351-4. 2012..3 (95% CI 1.9-20.8), p=0.003] and myocardial infarction [hazard ratio 5.6 (95% CI 1.7-18.3), p=0.005]. In summary, our study in mouse and humans provides in vivo evidence of an effect of MMP12 on fibrinogen level... - Genetic loci influencing kidney function and chronic kidney diseaseJohn C Chambers
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College of London, London, UK
Nat Genet 42:373-5. 2010..0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease... - Predicting coronary risk in the general population--is it necessary to measure high-density lipoprotein cholesterol?Sarah Wilson
Clinical Pharmacology, William Harvey Research Institute, Barts and The London, Queen Mary s School of Medicine and Dentistry, Charterhouse Square, London EC1 M 6BQ, UK
J Cardiovasc Risk 10:137-41. 2003..It is important to quantify the impact of this advice if risk assessments are to be sufficiently accurate to guide treatment decisions... - Increased support for linkage of a novel locus on chromosome 5q13 for essential hypertension in the British Genetics of Hypertension StudyPatricia B Munroe
Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute Barts and the London School of Medicine, Charterhouse Square, London, United Kingdom
Hypertension 48:105-11. 2006..07). We found increased evidence for linkage and borderline-significant evidence for association for a hypertension susceptibility locus on chromosome 5q13 that is worthy of detailed fine mapping and assessment of candidate genes... - Functional analyses of coronary artery disease associated variation on chromosome 9p21 in vascular smooth muscle cellsAnna Motterle
Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK
Hum Mol Genet 21:4021-9. 2012.... - Impact of atorvastatin among older and younger patients in the Anglo-Scandinavian Cardiac Outcomes Trial Lipid-Lowering ArmDavid J Collier
Barts and The London, Queen Mary s School of Medicine and Dentistry, UK
J Hypertens 29:592-9. 2011..The Lipid-Lowering Arm of the Anglo-Scandinavian Cardiac Outcomes Trial allowed an evaluation of the efficacy and safety of atorvastatin among older (≥ 65 years) and younger (<65 years) patients with hypertension... - Recent advances in the identification of genes for human hypertensionAna C B Marcano
Clinical Pharmacology and The Genome Centre, The William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Charterhouse Square, London, EC1M 6BQ, UK
Expert Rev Cardiovasc Ther 3:733-41. 2005.... - Genetics of essential hypertensionCharles A Mein
Clinical Pharmacology and The Genome Centre, The William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK
Hum Mol Genet 13:R169-75. 2004..We also report some of the initial findings from pharmacogenetic studies... - Global sequence properties for superfamily prediction: a machine learning approachRichard J B Dobson
The William Harvey Research Institute, Bart s and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
J Integr Bioinform 6:109. 2009..These approaches can be used to complement profile methods for detecting distant relationships where function is difficult to infer... - Advances in blood pressure genomicsPatricia B Munroe
From the William Harvey Research Institute and Barts National Institute for Health Research Cardiovascular Biomedical Research Unit, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ United Kingdom
Circ Res 112:1365-79. 2013.... - Role of blood pressure and other variables in the differential cardiovascular event rates noted in the Anglo-Scandinavian Cardiac Outcomes Trial-Blood Pressure Lowering Arm (ASCOT-BPLA)Neil R Poulter
Imperial College London, London, UK
Lancet 366:907-13. 2005..86 and 0.77, respectively). Our aim was to assess to what extent these differences were due to significant differences in blood pressures and in other variables noted after randomisation... - Ethnic differences in blood pressure response to first and second-line antihypertensive therapies in patients randomized in the ASCOT TrialAjay K Gupta
ICCH, Imperial College London, London, UK
Am J Hypertens 23:1023-30. 2010..Some studies suggest that blood pressure (BP)-lowering effects of commonly used antihypertensive drugs differ among ethnic groups. However, differences in the response to second-line therapy have not been studied extensively... - Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension studyStephen J Newhouse
Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and the London School of Medicine, London, UK
Hum Mol Genet 14:1805-14. 2005.... - Prevention of coronary and stroke events with atorvastatin in hypertensive patients who have average or lower-than-average cholesterol concentrations, in the Anglo-Scandinavian Cardiac Outcomes Trial--Lipid Lowering Arm (ASCOT-LLA): a multicentre randomisPeter S Sever
Imperial College, London, UK
Drugs 64:43-60. 2004..1 mmol/L after 3 years of follow-up. INTERPRETATION: The reductions in major cardiovascular events with atorvastatin are large, given the short follow-up time. These findings may have implications for future lipid-lowering guidelines... - Prevention of coronary and stroke events with atorvastatin in hypertensive patients who have average or lower-than-average cholesterol concentrations, in the Anglo-Scandinavian Cardiac Outcomes Trial--Lipid Lowering Arm (ASCOT-LLA): a multicentre randomisPeter S Sever
Imperial College, London, UK
Lancet 361:1149-58. 2003..1 mmol/L after 3 years of follow-up. INTERPRETATION: The reductions in major cardiovascular events with atorvastatin are large, given the short follow-up time. These findings may have implications for future lipid-lowering guidelines... - Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general populationMartin D Tobin
Department of Health Sciences and Genetics, University of Leicester, UK
Hypertension 51:1658-64. 2008..Notably, variants in KCNJ1, which causes Bartter syndrome type 2, were strongly associated, potentially providing a novel target for intervention... - Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's diseaseSheila A Fisher
Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
Nat Genet 40:710-2. 2008..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases... - Chromosome 2p shows significant linkage to antihypertensive response in the British Genetics of Hypertension StudySandosh Padmanabhan
BHF Glasgow Cardiovascular Research Centre, University of Glasgow, United Kingdom
Hypertension 47:603-8. 2006..We have demonstrated for the first time identification of a significant locus by partitioning different pathways of hypertension using drug response... - Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiencyMarianne Barr
British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, UK
Hypertension 49:113-9. 2007..This study strongly suggests that the impaired 11beta-hydroxylase efficiency associated previously with the CYP11B2 -344 and intron conversion variants is because of linkage with these newly identified polymorphisms in CYP11B1... - Potential synergy between lipid-lowering and blood-pressure-lowering in the Anglo-Scandinavian Cardiac Outcomes TrialPeter Sever
Clinical Pharmacology and Therapeutics, Imperial College London, International Centre for Circulatory Health, 59 North Wharf Road, London W2 1PG, UK
Eur Heart J 27:2982-8. 2006.... - Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
Science 316:1336-41. 2007..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes... - Reduction in cardiovascular events with atorvastatin in 2,532 patients with type 2 diabetes: Anglo-Scandinavian Cardiac Outcomes Trial--lipid-lowering arm (ASCOT-LLA)Peter S Sever
International Centre for Circulatory Health, NHLI, Faculty of Medicine, Imperial College London, St. Mary's Campus, 59 N. Wharf Road, London W2 1PG, U.K
Diabetes Care 28:1151-7. 2005..Allocation to atorvastatin prevented approximately 9 diabetic participants from suffering a first major cardiovascular event or procedure for every 1,000 treated for 1 year... - Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertensionAna Carolina Braga Marçano
J Med Genet 44:603-5. 2007..In particular, a haplotype of three genetic polymorphisms (rs2276047, rs9886 and an insertion/deletion polymorphism in intron 1) was found to be strongly associated with increased susceptibility to hypertension... - Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsPaul R Burton
Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
Nat Genet 39:1329-37. 2007.... - The Anglo-Scandinavian Cardiac Outcomes Trial lipid lowering arm: extended observations 2 years after trial closurePeter S Sever
International Centre for Circulatory Health, Imperial College London, 59 North Wharf Road, London W2 1PG, UK
Eur Heart J 29:499-508. 2008..To determine the cardiovascular benefits in those originally assigned atorvastatin in the Anglo-Scandinavian Cardiac Outcomes Trial-2.2 years after closure of the lipid-lowering arm of the trial (ASCOT-LLA)... - Prevention of cardiovascular events with an antihypertensive regimen of amlodipine adding perindopril as required versus atenolol adding bendroflumethiazide as required, in the Anglo-Scandinavian Cardiac Outcomes Trial-Blood Pressure Lowering Arm (ASCOT-BBjorn Dahlof
Department of Medicine, Sahlgrenska University Hospital Ostra, SE 416 85 Goteborg, Sweden
Lancet 366:895-906. 2005..Our aim, therefore, was to compare the effect on non-fatal myocardial infarction and fatal CHD of combinations of atenolol with a thiazide versus amlodipine with perindopril... - The Anglo-Scandinavian Cardiac Outcomes Trial: blood pressure-lowering limb: effects in patients with type II diabetesJan Ostergren
Department of Medicine, Karolinska University Hospital Solna, Stockholm, Sweden
J Hypertens 26:2103-11. 2008.... - Genome-wide association analysis identifies 20 loci that influence adult heightMichael N Weedon
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter EX1 2LU, UK
Nat Genet 40:575-83. 2008..Finally, our results provide insights into the genetic architecture of a classic quantitative trait... - Common variants near MC4R are associated with fat mass, weight and risk of obesityRuth J F Loos
MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Nat Genet 40:768-75. 2008.... - Two-dimensional genome-scan identifies novel epistatic loci for essential hypertensionJordana Tzenova Bell
Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Hum Mol Genet 15:1365-74. 2006..This approach has discovered novel loci for hypertension and offers a unique potential to use existing data to uncover novel regions involved in complex human diseases...