Research Topics
Genomes and GenesSpecies | Sheila A FisherSummaryAffiliation: King's College London Country: UK Publications
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Publications
Meta-analysis of genome scans of age-related macular degenerationSheila A Fisher
Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, London SE1 9RT, UK
Hum Mol Genet 14:2257-64. 2005..Several of the regions identified here showed only weak evidence for linkage in the individual studies. These results will help prioritize regions for future positional and functional candidate gene studies in AMD...
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...- Independent and population-specific association of risk variants at the IRGM locus with Crohn's diseaseNatalie J Prescott
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London SE1 9RT, UK
Hum Mol Genet 19:1828-39. 2010.... - Power of genetic association studies in the presence of linkage disequilibrium and allelic heterogeneitySheila A Fisher
Division of Genetics and Molecular Medicine, Institute of Psychiatry, King s College London, London, UK
Hum Hered 66:210-22. 2008.... - Meta-analysis of genome-wide linkage studies across autoimmune diseasesPaola Forabosco
King s College London School of Medicine, Department of Medical and Molecular Genetics, London, UK
Eur J Hum Genet 17:236-43. 2009..This study illustrates the concept that linkage and association studies have power to identify very different types of disease-predisposing variants... - Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)Sheila A Fisher
Department of Medical and Molecular Genetics, Guy s King s and St Thomas School of Medicine, King s College London, London, United Kingdom
Hum Mutat 28:406-13. 2007..0026... - Data acquisition for meta-analysis of genome-wide linkage studies using the genome search meta-analysis methodPaola Forabosco
Department of Medical and Molecular Genetics, King s College London School of Medicine at Guy s, King s College and St Thomas Hospitals, London, UK
Hum Hered 64:74-81. 2007..Ranks are then summed across studies, with high summed ranks potentially showing evidence for linkage in the meta-analysis... - Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn diseaseMuddassar M Mirza
Division of Medical and Molecular Genetics, Guy s, King s, and Thomas s School of Medicine, King s College London, Guy s Hospital, London, United Kingdom
Am J Hum Genet 72:1018-22. 2003..0019). These findings suggest that genetic variants at the 5q31 (IBD5) locus may hasten the onset of Crohn disease and cooperate with CARD15 in disease causation... - Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) geneKathy King
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
Genomics 90:493-501. 2007..We show that there is no significant association between variants in the novel NOD2 promoter region and CD... - Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British populationAlexandra V Pearce
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
Int J Colorectal Dis 22:419-24. 2007.... - Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6Sheila A Fisher
Division of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, UK
Eur J Hum Genet 10:259-65. 2002..The existence of sex-specific linkage is further evidence of the complex mechanisms involved in IBD and will facilitate future studies to identify susceptibility genes... - A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5Natalie J Prescott
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
Gastroenterology 132:1665-71. 2007..We investigated this association in independent U.K. cohorts of Crohn's disease and ulcerative colitis... - Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15Kathy King
Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, London, United Kingdom
Hum Mutat 27:44-54. 2006..The strategy developed here may have general application to the assessment of mutation pathogenicity and genetic models in other complex disorders... - Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndromeAkio Tanaka
St John s Institute of Dermatology, King s College London, Guy s Campus, London, UK
Am J Hum Genet 90:511-7. 2012..Collectively, the clinicopathological and molecular findings point to a cancer syndrome and provide evidence implicating a germline mutation in ATR and susceptibility to malignancy in humans... - Meta-analysis of genome-wide linkage studies for multiple sclerosis, using an extended GSMA methodJane Hermanowski
Department of Medical and Molecular Genetics, King s College London School of Medicine at Guy s, King s College and St Thomas Hospitals, London, UK
Eur J Hum Genet 15:703-10. 2007..These regions may provide targets to focus candidate gene studies or to prioritise results from genome-wide association studies... - Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolateSheila A Fisher
Department of Medical and Molecular Genetics, Guy s King s and St Thomas School of Medicine, King s College, London, UK
Br J Ophthalmol 91:576-8. 2007..The contribution of both loci to AMD was investigated in an isolated north-west Russian population... - Associations of allelic variants of the multidrug resistance gene (ABCB1 or MDR1) and inflammatory bowel disease and their effects on disease behavior: a case-control and meta-analysis studyClive M Onnie
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, UK
Inflamm Bowel Dis 12:263-71. 2006.... - Association of DLG5 R30Q variant with inflammatory bowel diseaseMark J Daly
The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA
Eur J Hum Genet 13:835-9. 2005..This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect... - 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... - 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... - 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... - Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairsDavid A van Heel
Department of Gastoenterology, Imperial College London, UK
Hum Mol Genet 13:763-70. 2004..Clustering of adjacent bins was observed for chromosomes 6p, 16, 19p. The meta-analysis has identified novel loci and prioritized genomic regions for further gene identification studies... - 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.... 
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNALars G Fritsche
Institute of Human Genetics, University of Regensburg, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany
Nat Genet 40:892-6. 2008..Our data suggest that ARMS2 has a key role in AMD, possibly through mitochondria-related pathways...- Genetic variation in myosin IXB is associated with ulcerative colitisAdriaan A van Bodegraven
Department of Gastroenterology, VU University Medical Centre, Amsterdam, The Netherlands
Gastroenterology 131:1768-74. 2006..These findings suggested the current study investigating a possible further role for MYO9B variation in inflammatory bowel disease... - The -174G allele of the interleukin-6 gene confers susceptibility to systemic arthritis in children: a multicenter study using simplex and multiplex juvenile idiopathic arthritis familiesEmma M Ogilvie
University College London, London, UK
Arthritis Rheum 48:3202-6. 2003..The significant excess transmission to patients with age at onset >5 years but not to those with age at onset < or =5 years suggests that there may be genetic heterogeneity between the 2 groups... - Relationship between p53 codon 72 polymorphism and susceptibility to sunburn and skin cancerJane M McGregor
Department of Photobiology, St Johns Institute of Dermatology, Guy s, Kings and St Thomas School of Medicine, St Thomas Hospital, London, U K
J Invest Dermatol 119:84-90. 2002..016), irrespective of the mutant status of the concomitant allele. Together these data infer functional differences between polymorphic forms of p53 that are likely to be relevant to skin carcinogenesis... - Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3Liisa Koivukoski
Department of Endocrinology, , Lund University, SE 205 02 Malm, Sweden
Hum Mol Genet 13:2325-32. 2004..We conclude that modest or non-significant linkage on chromosomes 3p14.1-q12.3 and 2p12-q22.1 in each individual study translates into genome-wide significant or highly suggestive linkages to HT and DBP in our GSMA analysis... - Diverse effects of the CARD15 and IBD5 loci on clinical phenotype in 630 patients with Crohn's diseaseClive M Onnie
Division of Genetics and Molecular Medicine, King s College London School of Medicine, Guy s Hospital, London, UK
Eur J Gastroenterol Hepatol 20:37-45. 2008..We studied 630 well-characterized patients to clarify the genotype/phenotype relationship in CD... - 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.... - Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effectSophia Steer
Guy's, King's and St Thomas' School of Medicine, London, UK
Arthritis Rheum 52:358-60. 2005 - 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... - Combined evidence from three large British Association studies rejects TUCAN/CARD8 as an IBD susceptibility geneSheila A Fisher
Gastroenterology 132:2078-80. 2007 - Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease riskAndrea Rivera
Institute of Human Genetics, University of Regensburg, Germany
Hum Mol Genet 14:3227-36. 2005..Our data show a disease odds ratio of 57.6 (95% CI: 37.2, 89.0) conferred by homozygosity for risk alleles at both CFH and LOC387715 when compared with the baseline non-risk genotype... - Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn diseaseSheila A Fisher
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, United Kingdom
Hum Mutat 27:778-85. 2006.... - The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel diseaseAndrew P Cuthbert
Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, England, United Kingdom
Gastroenterology 122:867-74. 2002....