Institution
Wellcome Trust Centre for Human Genetics
Facility•Oxford, United Kingdom•
About: Wellcome Trust Centre for Human Genetics is a facility organization based out in Oxford, United Kingdom. It is known for research contribution in the topics: Population & Genome-wide association study. The organization has 2122 authors who have published 4269 publications receiving 433899 citations.
Topics: Population, Genome-wide association study, Single-nucleotide polymorphism, Gene, Locus (genetics)
Papers published on a yearly basis
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University College London1, Imperial College London2, Clinical Trial Service Unit3, University of Oxford4, St Bartholomew's Hospital5, Wellcome Trust Centre for Human Genetics6, University of Glasgow7, Universidade Federal de Pelotas8, University of South Australia9, UCL Institute of Child Health10, European Bioinformatics Institute11, Charité12, University of Lübeck13, Max Planck Society14, Innsbruck Medical University15, Bradford Royal Infirmary16, University of Bristol17, St George's, University of London18, University of Edinburgh19, University of Lausanne20, University of Nicosia21, Cyprus University of Technology22, Utrecht University23, University of Turin24, Cancer Epidemiology Unit25, University of Cambridge26, Russian Academy27, Jagiellonian University28, Lithuanian University of Health Sciences29, University of Copenhagen30, Marshfield Clinic31, Children's Hospital of Philadelphia32, Group Health Research Institute33, Mayo Clinic34, Vanderbilt University35, George Washington University36, University of Newcastle37, Population Health Research Institute38, University Medical Center Groningen39, Leiden University Medical Center40, Uppsala University41, Stanford University42, Science for Life Laboratory43, Erasmus University Medical Center44, Greifswald University Hospital45, University of Regensburg46, University of London47, Robertson Centre for Biostatistics48, university of lille49, French Institute of Health and Medical Research50, University of Nantes51, University of Essex52, Brigham and Women's Hospital53, Fred Hutchinson Cancer Research Center54, University of Colorado Denver55, Pennsylvania State University56, Geisinger Health System57, University of Pennsylvania58
TL;DR: PCSK9 variants associated with lower LDL cholesterol were also associated with circulating higher fasting glucose concentration, bodyweight, and waist-to-hip ratio, and an increased risk of type 2 diabetes.
296 citations
TL;DR: Structural and functional aspects emerging from the characterization of two main components (NS3 and NS5 proteins) of the flavivirus replication complex are reviewed to shed light on the design and development of antiviral drug leads.
296 citations
TL;DR: This is the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a approximately 10-cM grid of microsatellite markers and indicates that there is unlikely to be a major gene involved in ADHD susceptibility in this sample.
Abstract: Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.
295 citations
TL;DR: The results establish firmly that a history of infectious mononucleosis significantly increases the risk of multiple sclerosis.
Abstract: Background: Multiple sclerosis (MS) appears to develop in genetically susceptible individuals as a result of environmental exposures. Epstein-Barr virus (EBV) infection is an almost universal finding among individuals with MS. Symptomatic EBV infection as manifested by infectious mononucleosis (IM) has been shown in a previous meta-analysis to be associated with the risk of MS, however a number of much larger studies have since been published.Methods/Principal Findings: We performed a Medline search to identify articles published since the original meta-analysis investigating MS risk following IM. A total of 18 articles were included in this study, including 19390 MS patients and 16007 controls. We calculated the relative risk of MS following IM using a generic inverse variance with random effects model. This showed that the risk of MS was strongly associated with IM (relative risk (RR) 2.17; 95% confidence interval 1.97-2.39; p<10(-54)).Discussion: Our results establish firmly that a history of infectious mononucleosis significantly increases the risk of multiple sclerosis. Future work should focus on the mechanism of this association and interaction with other risk factors.
295 citations
University of Leicester1, University of Melbourne2, Walter and Eliza Hall Institute of Medical Research3, Brigham and Women's Hospital4, GlaxoSmithKline5, Mahidol University6, University of Arizona7, University of Oxford8, University of British Columbia9, University of Cambridge10, Imperial College London11, Greifswald University Hospital12, University of Edinburgh13, University of Liverpool14, Sir Charles Gairdner Hospital15, Swiss Tropical and Public Health Institute16, Science for Life Laboratory17, University of Helsinki18, University of Tampere19, University of Bergen20, Johns Hopkins University21, Laval University22, University Medical Center Groningen23, Icahn School of Medicine at Mount Sinai24, Anschutz Medical Campus25, Peking University26, Uppsala University27, Wellcome Trust Centre for Human Genetics28, Merck & Co.29, University of Aberdeen30, University of Münster31, University of Nottingham32, University of Dundee33, Autonomous University of Barcelona34, VA Boston Healthcare System35, University of California, San Francisco36, Princeton University37, Turku University Hospital38, University of Split39, University of Basel40, University of Western Australia41, Wellcome Trust Sanger Institute42, St George's, University of London43, National Institute for Health Research44
TL;DR: In this paper, a genome-wide association study in 400,102 individuals of European ancestry was conducted to define 279 lung function signals, 139 of which are new and the combined effect of these variants showed generalizability across smokers and never smokers, and across ancestral groups.
Abstract: Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in independent populations. Furthermore, the combined effect of these variants showed generalizability across smokers and never smokers, and across ancestral groups. We highlight biological pathways, known and potential drug targets for COPD and, in phenome-wide association studies, autoimmune-related and other pleiotropic effects of lung function-associated variants. This new genetic evidence has potential to improve future preventive and therapeutic strategies for COPD.
295 citations
Authors
Showing all 2127 results
| Name | H-index | Papers | Citations |
|---|---|---|---|
| Mark I. McCarthy | 200 | 1028 | 187898 |
| John P. A. Ioannidis | 185 | 1311 | 193612 |
| Gonçalo R. Abecasis | 179 | 595 | 230323 |
| Simon I. Hay | 165 | 557 | 153307 |
| Robert Plomin | 151 | 1104 | 88588 |
| Ashok Kumar | 151 | 5654 | 164086 |
| Julian Parkhill | 149 | 759 | 104736 |
| James F. Wilson | 146 | 677 | 101883 |
| Jeremy K. Nicholson | 141 | 773 | 80275 |
| Hugh Watkins | 128 | 524 | 91317 |
| Erik Ingelsson | 124 | 538 | 85407 |
| Claudia Langenberg | 124 | 452 | 67326 |
| Adrian V. S. Hill | 122 | 589 | 64613 |
| John A. Todd | 121 | 515 | 67413 |
| Elaine Holmes | 119 | 560 | 58975 |