Research Topics
Genomes and Genes
| Martin FarrallSummaryAffiliation: University of Oxford Country: UK Publications
| Collaborators
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Detail Information
Publications
Gearing up for genome-wide gene-association studiesMartin Farrall
Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Hum Mol Genet 14:R157-62. 2005..Expectations are understandably high and it is timely to review the promise and pitfalls of this strategy...- Interpreting gene-association studiesMartin Farrall
Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK
Hum Mol Genet 14:2489. 2005 
Genetic variants associated with Lp(a) lipoprotein level and coronary diseaseRobert Clarke
Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom
N Engl J Med 361:2518-28. 2009..The genetic determinants of the Lp(a) lipoprotein level and their relevance for the risk of coronary disease are incompletely understood...- Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9pHelen M Broadbent
Department of Cardiovascular Medicine, University of Oxford, UK
Hum Mol Genet 17:806-14. 2008..A large antisense non-coding RNA gene (ANRIL) collocates with the high-risk haplotype, is expressed in tissues and cell types that are affected by atherosclerosis and is a prime candidate gene for the chromosome 9p CAD locus... 
Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17Martin Farrall
Department of Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom
PLoS Genet 2:e72. 2006..The region on Chromosome 17 provides a compelling target within which to identify novel genes underlying CAD. Understanding the genetic aetiology of CAD may lead to novel preventative and/or therapeutic strategies...- Meta-analysis and imputation refines the association of 15q25 with smoking quantityJason Z Liu
Department of Statistics, University of Oxford, Oxford, UK
Nat Genet 42:436-40. 2010..Our fine-mapping approach identified a SNP showing the highest significance, rs55853698, located within the promoter region of CHRNA5. Conditional analysis also identified a secondary locus (rs6495308) in CHRNA3... - Aryl hydrocarbon receptor nuclear translocator-like (BMAL1) is associated with susceptibility to hypertension and type 2 diabetesPeng Y Woon
Wellcome Trust Centre for Human Genetics and Department of Cardiovascular Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom
Proc Natl Acad Sci U S A 104:14412-7. 2007..This comparative genetics finding translated from mouse and rat models to human provides evidence of a causative role of Bmal1 variants in pathological components of the metabolic syndrome... - Genetic susceptibility to coronary artery disease: from promise to progressHugh Watkins
Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK
Nat Rev Genet 7:163-73. 2006..Recent findings particularly highlight the link between CAD and inflammation and immunity, and highlight the biological insights to be gained from a genetic understanding of the world's biggest killer... - Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndromePamela J Kaisaki
The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Diabetes 53:1900-4. 2004..We conclude that INPPL1 variants may impact susceptibility to disease and/or to subphenotypes involved in the metabolic syndrome in some diabetic patients... - Angiotensin I-converting enzyme polymorphisms, ACE level and blood pressure among Nigerians, Jamaicans and African-AmericansNourdine Bouzekri
Department of Biological Anthropology, University of Oxford, Oxford, UK
Eur J Hum Genet 12:460-8. 2004..We did observe, however, that the overtransmitted haplotypes among hypertensives were drawn from a single clade, suggesting that susceptibility may cluster in patterns not captured directly by our markers... - Quantitative genetic variation: a post-modern viewMartin Farrall
Department of Cardiovascular Medicine, University of Oxford, The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
Hum Mol Genet 13:R1-7. 2004..It is hoped that these advances will enhance our understanding of the genetic basis of complex inherited diseases... - Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomaliesSibel Ugur Iseri
Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford, United Kingdom
Hum Mutat 30:1378-86. 2009..We suggest including FOXE3 in the diagnostic genetic screening for these anomalies... - Measured haplotype analysis of the aldosterone synthase gene and heart sizeBongani 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... - 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... - Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic strokeCeline Bellenguez
Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Nat Genet 44:328-33. 2012..28-1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes... - Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysisBongani 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... - Thirty-five common variants for coronary artery disease: the fruits of much collaborative labourJohn F Peden
Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
Hum Mol Genet 20:R198-205. 2011.... - Functional annotations of diabetes nephropathy susceptibility loci through analysis of genome-wide renal gene expression in rat models of diabetes mellitusYaoMin Hu
The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
BMC Med Genomics 2:41. 2009.... - 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... - Glutathione S-transferase variants and hypertensionChristian Delles
British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK
J Hypertens 26:1343-52. 2008..We have recently demonstrated reduced expression of glutathione S-transferase mu type 1 (Gstm1) in a rat model of hypertension. Here, we examine the association between GSTM variants and hypertension in human... - A genome-wide association study of global gene expressionAnna L Dixon
National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK
Nat Genet 39:1202-7. 2007..We have created a downloadable database to facilitate use of our findings in the mapping of complex disease loci... - 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 C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertensionMichelle 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... - Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertensionBongani 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)... - High-resolution genetic mapping of the ACE-linked QTL influencing circulating ACE activityFlorent Soubrier
INSERM U 525, Faculté de Médecine Pitié Salpêtrière, Universite Paris VI, 91 Bd de l Hopital, 75013 Paris, France
Eur J Hum Genet 10:553-61. 2002..The approaches developed will be applicable to the fine-mapping of other quantitative trait loci in humans... - Quantitative trait genetic linkage analysis of body mass index in familial coronary artery diseaseClaudia Specchia
Department of Cardiovascular Research, Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy
Hum Hered 66:19-24. 2008..Methods: Multipoint linkage analysis for BMI was conducted using both a variance component approach and a model-free regression method, and the resulting LOD scores were compared... - 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... - 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... - 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.... - Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genesJulian 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... - A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15Stephan Menzel
King s College London School of Medicine, Division of Gene and Cell Based Therapy, King s Denmark Hill Campus, London SE5 9PJ, UK
Nat Genet 39:1197-9. 2007..The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance... - 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... - Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotidesRoger Cox
Medical Research Council, Mammalian Genetics Unit, Harwell, Didcot OX11 0RD, UK
Hum Mol Genet 11:2969-77. 2002..These results point to the importance of analysing diverse populations with different gene genealogies in gene-association studies... - 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... - Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretionBernard 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... - 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.... - Finding associations in dense genetic maps: a genetic algorithm approachTaane G Clark
Department of Epidemiology and Public Health, Imperial College, St Mary s Campus, Norfolk Place, London W2 1PG, UK
Hum Hered 60:97-108. 2005..We demonstrate our method and the flexibility of logic tree structure with variable nodal lengths on simulated data from a coalescent model, as well as data from a candidate gene study of quantitative genetic variation... - Polymorphisms in genes involved in folate metabolism as risk factors for oedematous severe childhood malnutrition: a hypothesis-generating studyKwesi G Marshall
Tropical Metabolism Research Unit, Tropical Medicine Research Institute, University of the West Indies, Mona, Jamaica
Ann Trop Paediatr 26:107-14. 2006.... - 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... - Glutathione S-transferase polymorphisms may be associated with risk of oedematous severe childhood malnutritionKwesi G Marshall
Tropical Metabolism Research Unit, University of the West Indies, Mona, Jamaica
Br J Nutr 96:243-8. 2006..Such studies may improve our understanding of the causes of clinical heterogeneity in malnutrition... - Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin geneNathalie Vionnet
INSERM U525, Centre National de Genotypage, 2, rue Gaston Crémieux, 91006 Evry Cedex, France
Diabetes 55:3166-74. 2006..50 [0.27-0.92], P = 0.026). The overall significance for this variant (nominal P = 0.011) suggests that ADIPOQ might be involved in the development of diabetic nephropathy... - Association between angiotensin-converting enzyme gene polymorphisms and diabetic nephropathy: case-control, haplotype, and family-based study in three European populationsSamy Hadjadj
CHU de Poitiers, Department of Diabetology, Poitiers University Hospital, Poitiers, France
J Am Soc Nephrol 18:1284-91. 2007..This study population is suitable to search for additional candidate genes for DN... - 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... - Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS studySimona Barlera
Department of Cardiovascular Research, Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy
Eur J Hum Genet 15:221-7. 2007..5). Our findings provide new and confirmatory information about genomic regions involved in the quantitative variation of Lp(a) and serve as a basis for further studies of candidate genes in these regions... - 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... - Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthmaMiriam F Moffatt
National Heart and Lung Institute, Imperial College, London SW3 6LY, UK
Nature 448:470-3. 2007..The results indicate that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma... - Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adultsSwee Lay Thein
King s College London School of Medicine, Division of Gene and Cell Based Therapy, King s College Hospital, London SE5 9PJ, United Kingdom
Proc Natl Acad Sci U S A 104:11346-51. 2007..The results support a key role for the HBS1L-related genetic variants in HbF control and illustrate the biological complexity of the mechanism of 6q QTL as a modifier of fetal hemoglobin levels in the beta hemoglobinopathies... - Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family studyMichelle 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... - Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) geneHelen 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... - 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... - 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... - The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humansStephan Menzel
King s College London School of Medicine, Division of Gene and Cell Based Therapy, London, United Kingdom
Blood 110:3624-6. 2007..These results support the notion that changes of F-cell abundance can be an indicator of more general shifts in hematopoietic patterns in humans...