Genomes and Genes
Affiliation: Addenbrooke's Hospital
- Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibilityMiles Parkes
Inflammatory Bowel Disease Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 2QQ, UK
Nat Genet 39:830-2. 2007..We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 x 10(-4), combined P = 2.1 x 10(-10)) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13...
- Genome-wide association scanning highlights two autophagy genes, ATG16L1 and IRGM, as being significantly associated with Crohn's diseaseDunecan C O Massey
Cambridge IBD Genetics Research Group, Addenbrooke s Hospital and University of Cambridge, Cambridge, UK
Autophagy 3:649-51. 2007..It seems highly plausible that variation in these genes holds the key to understanding exactly which bacteria drive the intestinal inflammation of CD and the mechanism by which they do this...
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's diseaseJeffrey C Barrett
Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Nat Genet 40:955-62. 2008..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
- Evidence from genetics for a role of autophagy and innate immunity in IBD pathogenesisMiles Parkes
Cambridge University Hospital, Cambridge, UK
Dig Dis 30:330-3. 2012....
- Genetic association between NLRP3 variants and Crohn's disease does not replicate in a large UK panelGregory J Lewis
IBD Genetics Research Unit, Department of Gastroenterology, Addenbrooke s Hospital, Hills Road, Cambridge, UK
Inflamm Bowel Dis 17:1387-91. 2011..3 kb downstream of NLRP3. Independent replication is required to verify these findings...
- IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel diseaseMark Tremelling
IBD Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge, England, UK
Gastroenterology 132:1657-64. 2007..We tested for association between IL23R and IBD in a large independent UK panel to determine the size of the effect and explore subphenotype correlation and interaction with CARD15...
- Complex insertion/deletion polymorphism in NOD1 (CARD4) is not associated with inflammatory bowel disease susceptibility in East Anglia panelMark Tremelling
IBD Research Group, Addenbrooke s Hospital, University of Cambridge, United Kingdom
Inflamm Bowel Dis 12:967-71. 2006..Our aim was to ascertain the contribution of ND1 + 32656 variants to IBD in a large independent United Kingdom dataset and to identify any subphenotype association within CD and ulcerative colitis (UC)...
- Contribution of TNFSF15 gene variants to Crohn's disease susceptibility confirmed in UK populationMark Tremelling
East Anglia IBD Research Group, Cambridge University Department of Medicine, Addenbrookes Hospital, Cambridge, UK
Inflamm Bowel Dis 14:733-7. 2008..Recent reports of an association between TNFSF15 variants and CD have been modestly replicated in European populations, suggesting heterogeneity at this locus with stronger CD association in Japanese than European populations...
- Genetic variants in TNF-alpha but not DLG5 are associated with inflammatory bowel disease in a large United Kingdom cohortMark Tremelling
Department of Gastroenterology, Addenbrookes Hospital, Cambridge, UK
Inflamm Bowel Dis 12:178-84. 2006..We studied these variants to seek evidence of association with IBD in a large independent dataset...
- Mucosal genome-wide methylation changes in inflammatory bowel diseaseJames Cooke
IBD Genetics Research Unit, Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Inflamm Bowel Dis 18:2128-37. 2012..Here our aim was to study the impact of differences in methylation patterns in the intestine with regard to inflammatory bowel disease (IBD) susceptibility and activity...
- Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factorMaria Ban
Department of Clinical Neuroscience, Addenbrooke s, Hospital, University of Cambridge, Cambridge, UK
Eur J Hum Genet 17:1309-13. 2009....
- 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....
- Genetics of inflammatory bowel disease: clues to pathogenesisHu Zhang
IBD Genetics Research Group, Addenbrooke s Hospital, Cambridge University, UK
Br Med Bull 87:17-30. 2008..Substantial progress has been made in the last 2 years in characterizing the susceptibility genes involved...
- Genetic insights into common pathways and complex relationships among immune-mediated diseasesMiles Parkes
1 Inflammatory Bowel Disease Research Group, Department of Medicine, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 0QQ, UK 2
Nat Rev Genet 14:661-73. 2013..Interestingly, risk alleles conferring the largest effect sizes are usually disease-specific. These factors help to explain why early evidence of extensive 'sharing' is not always reflected in epidemiological overlap. ..
- Genome-wide association studies and Crohn's diseaseJames C Lee
Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, UK
Brief Funct Genomics 10:71-6. 2011..In this article we will summarize the principal discoveries that have been made in CD genetics and explain how these have contributed to our improved understanding of disease pathogenesis...
- Genome-wide association scans identify multiple confirmed susceptibility loci for Crohn's disease: lessons for study designMark Tremelling
Inflammatory Bowel Disease Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Inflamm Bowel Dis 13:1554-60. 2007....
- Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated diseaseTim Raine
Department of Medicine, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Gut 64:250-9. 2015..We aimed to characterise whole transcriptomes for each common T lymphocyte subset resident within the gut mucosa, and use these to infer biological insights and highlight candidate genes of interest within GWAS risk loci...
- Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathwayJames C Lee
Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Cell 155:57-69. 2013..Thus, we uncover a shared genetic contribution to prognosis in distinct diseases that operates via a FOXO3-driven pathway modulating inflammatory responses...
- DNA methylation analysis in the intestinal epithelium-effect of cell separation on gene expression and methylation profileAndreas C Jenke
Department of Paediatric Gastroenterology, Hepatology and Nutrition, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
PLoS ONE 8:e55636. 2013..We investigated the influence of two frequently used protocols to isolate intestinal epithelium cells (IECs) from 6 healthy individuals...
- Common pathways in Crohn's disease and other inflammatory diseases revealed by genomicsDunecan Massey
IBD Genetics Research Group, Department of Gastroenterology, Box 201A, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Gut 56:1489-92. 2007..Genetics may not provide all the answers but it will, in highlighting the pathways relevant to the pathogenesis of Crohn's disease and other inflammatory conditions, at least indicate which questions need answering...
- The genetics of inflammatory bowel diseaseBijay Baburajan
Department of Gastroenterology, Addenbrooke s Hospital, Cambridge CB2 2QQ
Hosp Med 64:599-602. 2003..NOD2 was recently identified as a major susceptibility gene for Crohn's disease. This and a number of other strong genetic leads are discussed...
- Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47Carl A Anderson
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
Nat Genet 43:246-52. 2011..The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis...
- 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...
- 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...
- 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....
- Prevalence of CARD15/NOD2 mutations in Caucasian healthy peopleJean Pierre Hugot
INSERM Avenir U763 AP HP Université Paris 7, Hopital Robert Debre, Paris, France
Am J Gastroenterol 102:1259-67. 2007..This high risk may support the opinion that CARD15/NOD2 variants are strong CD risk factors at the individual and population levels...