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3 results on '"Gavin Band"'

1. Reappraisal of known malaria resistance loci in a large multicenter study

Author

Malcolm E. Molyneux, Peter Siba, Andre Ndi, Valentina D. Mangano, Cao Quang Thai, Vysaul Nyirongo, Subulade A. Olaniyan, Angie Green, Mahamadou A. Thera, Timothy M. E. Davis, Síle F. Molloy, Kathryn Fitzpatrick, Giorgio Sirugo, Edith C. Bougouma, Chris Drakeley, Anthony Enimil, Angela Allen, Olukemi K. Amodu, Christina Hubbart, Nuno Sepúlveda, Nguyen Hoan Phu, M Jallow, Carolyne M. Ndila, Stanley Usen, Kimberly J. Johnson, Hugh Reyburn, Taane G. Clark, Dominic P. Kwiatkowski, Si Quang Le, Tobias O. Apinjoh, Kalifa Bojang, Jennifer R Evans, Michael D. Wilson, Lee Hart, Sophie Uyoga, Angeliki Kerasidou, Eric A. Achidi, Steve Allen, Kirk A. Rockett, Pascal Michon, Ivo Mueller, Anna E. Jeffreys, Belco Poudiougou, Anita Ghansah, Norbert Peshu, Fatoumatta Sisay-Joof, David Kachala, Sodiomon B. Sirima, David J. Conway, Geraldine M. Clarke, Regina N. Mugri, Moses Laman, Aaron Vanderwal, Miguel A. Sanjoaquin, Sibiry Sissoko, Ousmane Touré, Laurens Manning, Chris C. A. Spencer, Matti Pirinen, David Modiano, Sarah J. Dunstan, Harin Karunajeewa, Alexander Macharia, Tran Tinh Hien, Tsiri Agbenyega, Gavin Band, Kate Rowlands, Salimata Konate, Rachel Craik, L. Amenga-Etego, Nguyen Ngoc Quyen, Kwadwo A. Koram, Amadou Niangaly, Margaret Pinder, Alphaxard Manjurano, Terrie E. Taylor, Ogobara K. Doumbo, Eleanor M. Riley, Jeremy Farrar, Victoria Cornelius, Kevin Marsh, and Thomas N. Williams

Subjects
medicine.medical_specialty, Genome-wide association study, Glucosephosphate Dehydrogenase, Polymorphism, Single Nucleotide, Article, Papua New Guinea, Plasma Membrane Calcium-Transporting ATPases, Polymorphism (computer science), ABO blood group system, parasitic diseases, Epidemiology, Genetics, medicine, Humans, Malaria, Falciparum, Africa South of the Sahara, Genetic Association Studies, Disease Resistance, biology, Transmission (medicine), Case-control study, Plasmodium falciparum, medicine.disease, biology.organism_classification, 3. Good health, Glucosephosphate Dehydrogenase Deficiency, Logistic Models, Vietnam, Genetic Loci, Case-Control Studies, Malaria
Abstract

Many human genetic associations with resistance to malaria have been reported, but few have been reliably replicated. We collected data on 11,890 cases of severe malaria due to Plasmodium falciparum and 17,441 controls from 12 locations in Africa, Asia and Oceania. We tested 55 SNPs in 27 loci previously reported to associate with severe malaria. There was evidence of association at P < 1 × 10(-4) with the HBB, ABO, ATP2B4, G6PD and CD40LG loci, but previously reported associations at 22 other loci did not replicate in the multicenter analysis. The large sample size made it possible to identify authentic genetic effects that are heterogeneous across populations or phenotypes, with a striking example being the main African form of G6PD deficiency, which reduced the risk of cerebral malaria but increased the risk of severe malarial anemia. The finding that G6PD deficiency has opposing effects on different fatal complications of P. falciparum infection indicates that the evolutionary origins of this common human genetic disorder are more complex than previously supposed.

Published
2014
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2. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Author

Nicholas W. Wood, Chris C. A. Spencer, Konrad Koss, Heike I. Grabsch, Ananth C. Viswanathan, Simon C. Potter, Thomas L. Vaughan, Brian J. Reid, Céline Bellenguez, Kimberley Howarth, Claire Brooks, Michael Gibbons, Geoffrey Liu, David Ferry, Ian Tomlinson, Chuka U. Nwokolo, John de Caestecker, Barrie Rathbone, Francesco Lescai, Anna Rautanen, Weimin Ye, Nicholas I. Church, Nigel C. Bird, Laura J. Hardie, Peter H. Watson, Ross McManus, Peter Donnelly, David Cunningham, Peter Sasieni, Aiden Corvin, Cisca Wijmenga, Sarah Edkins, Amy Strange, Sheldon C. Cooper, Audrey Duncanson, Harvey A. Risch, Ian Sargeant, Christopher Macdonald, Pradeep Bhandari, Sarah E. Hunt, Matthew D. Rutter, John V. Reynolds, Nigel Trudgill, Rebecca Harrison, Anna H. Wu, Scott Sanders, Christopher G. Mathew, Mark S. Anderson, Raf Bisschops, Cathryn Edwards, Avazeh Tashakkori-Ghanbaria, Praful Patel, Wong Ho Chow, Anouk Van Der Winkel, Panos Deloukas, Kishor Vaidya, Manoj Nanji, Nichola L. Gellatly, Leena Peltonen, Iain A. Murray, Matthew A. Brown, Deborah Glancy, Marilie D. Gammon, Robert Plomin, Julie Hapeshi, Elia Stupka, Janusz Jankowski, Liam J. Murray, Alan G. Casson, Hugh McMurtry, Haythem Ali, Douglas A. Corley, Kausila Krishnadath, Hugh Barr, David Johnston, Derek Alderson, Ruth E Langley, Elvira Bramon, Saj Wajed, Sharon Love, Peter D. Siersema, Ernst J. Kuipers, Simon Panter, Mark R. Middleton, Ian D. Penman, Peter Isaacs, Krish Ragunath, David K. Levine, Paul Atherfold, Maikel P. Peppelenbosch, Joost P.H. Drenth, Claire Palles, Art Tucker, Stephen Attwood, Cordelia Langford, Rui Zhang, Matti Pirinen, Colin Freeman, Stephen Sawcer, Stuart MacGregor, Hugh S. Markus, S Paterson, Anna M. Nicholson, M Griffin, Nicola Burch, Colin Rodgers, Helen Winter, Anjan Dhar, Zhan Su, Emma Gray, Jantine W. P. M. van Baal, Richard C. Trembath, David Monk, Paul Mullins, Danielle Morris, Ashref Tawil, Serge Dronov, Hans Prenen, Yeng Ang, Dermot Kelleher, Gavin Band, Leslie Bernstein, Weronica E. Ek, H Smart, Luc J. W. van der Laan, Colin N. A. Palmer, Jenefer M. Blackwell, Wilbert H.M. Peters, David C. Whiteman, Tore Lind, Gosia Trynka, Helen Dallal, Paul Moayyedi, Russell D. Petty, Richard S. Gillies, Nicholas J. Shaheen, Chris Haigh, Sue Cullen, Gareth E. Davies, Julia Brown, Jean-Baptiste Cazier, Juan P. Casas, Yvonne Romero, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Gastroenterology and Hepatology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Gastroenterology & Hepatology, and Surgery

Subjects
Male, Linkage disequilibrium, Genome-wide association study, GASTROESOPHAGEAL-REFLUX DISEASE, Barrett’s Esophagus, Gastroenterology, Linkage Disequilibrium, Major Histocompatibility Complex, 0302 clinical medicine, Gene Frequency, Metaplasia, Molecular gastro-enterology and hepatology Membrane transport and intracellular motility [IGMD 2], POPULATION, Gastro-esophageal reflux disease (GERD), Genetics, education.field_of_study, Single nucleotide polymorphisms (SNPs), Middle Aged, CANCER, 3. Good health, Esophageal adenocarcinoma (EAC), medicine.anatomical_structure, 030220 oncology & carcinogenesis, OBESITY, Adenocarcinoma, Female, 030211 gastroenterology & hepatology, medicine.symptom, Molecular gastro-enterology and hepatology Translational research [IGMD 2], Adult, medicine.medical_specialty, SUSCEPTIBILITY LOCI, Population, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, Genome-wide association (GWA) study, Barrett Esophagus, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Esophagus, GENOME-WIDE ASSOCIATION, education, METAANALYSIS, Aged, Models, Genetic, ADENOCARCINOMA, medicine.disease, digestive system diseases, Genetic Loci, Case-Control Studies, Barrett's esophagus, RISK-FACTORS, METAPLASIA, Human medicine, Chromosomes, Human, Pair 16, Genome-Wide Association Study
Abstract

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (P combined = 4.09 × 10-9; odds ratio (OR) = 1.21, 95% confidence interval (CI) =1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (P combined = 2.74 × 10-10; OR = 1.14, 95% CI = 1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus. © 2012 Nature America, Inc. All rights reserved.

Published
2012
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3. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Author

Paul A. Weston, Emma Gray, Robert W. Ike, Sarah Rogers, Wolfgang Weger, Justin Paschall, Andreas Ruether, Anthony W. Ryan, James T. Elder, Robert Andrews, Ciara Coleman, Amy Perlmutter, Marin Aurand, Eva Riveira-Muñoz, Kati Kainu, G. Mark Lathrop, Per Hoffmann, Peter C.M. van de Kerkhof, Suzannah Bumpstead, Thomas Illig, Matthew W. Gillman, Gavin Band, Enno Christophers, Agnieszka Zawirska, Giuseppe Novelli, Jenefer M. Blackwell, Wilson Liao, Christopher G. Mathew, Steven J. Schrodi, Henry W. Lim, Sara Widaa, Lena Samuelsson, Cordelia Langford, Sari Suomela, Andre Franke, Jonathan Barker, Lotus Mallbris, Leena Peltonen, Ross McManus, Judith G.M. Bergboer, Radhi Ravindrarajah, Colin N. A. Palmer, O. T. McCann, Ggoncalo R. Abecasis, Ravi Hiremagalore, Tiziana Lepre, Rajan P. Nnair, Garrett Hellenthal, Brian Kirby, Richard D. Pearson, Linda E. Campbell, Stefan Schreiber, Eva Ellinghaus, Michael E. Weale, Sampath Prahalad, Stephen L. Guthery, Johann E. Gudjonsson, Janusz Jankowski, Simon C. Potter, Judith Fischer, Werner Kurrat, Michael J. Cork, Sean Ennis, Åsa Torinsson Naluai, Peter Donnelly, Raimund Erbel, Gosia Trynka, Audrey Duncanson, Martin den Heijer, Cindy Helms, Christian Gieger, Markward Ständer, Ulrike Hüffmeier, Mark I. McCarthy, Wolfgang Salmhofer, Yanming Li, Juan P. Casas, Nilesh J. Samani, Ramon M. Pujol, Peter Wolf, James Tt Eelder, Joost Schalkwijk, Katarina Wolk, Matthew Waller, Alan D. Irvine, Petra Badorf, Gemma Martin-Ezquerra, Dafna D. Gladman, Rotraut Mössner, Matthew A. Brown, Patrick L.J.M. Zeeuwen, Jonathan Nn Barker, Anne Barton, H.-Erich Wichmann, Hannah Blackburn, Emiliano Giardina, Wolfgang Küster, Heiko Traupe, Richard B. Warren, Aiden Corvin, Jennifer M. Gardner, Joe McPartlin, Alan Menter, Anna Rautanen, Jane Worthington, John J. Voorhees, Andrew Henschel, Külli Kingo, Proton Rahman, Jennifer Liddle, Hugh S. Markus, Catherine H. Smith, Cisca Wijmenga, Vinod Chandran, Richard Ttrembath, Ananth C. Viswanathan, Hyun Min Kang, David E. Goldgar, Fawnda Pellett, Joyce Leman, Jesús Lascorz, M. Perez, Sarah Edkins, Ulpu Saarialho-Kere, Alexandros Onoufriadis, Stephan Weidinger, Amy Strange, Funda Schürmeier-Horst, Michael H. Allen, Angelika Hofer, Lam C. Tsoi, Karl-Heinz Jöckel, Jun Ding, Adrian Hayday, Trilokraj Tejasvi, Mary J. Malloy, Susanne Moebus, Kristina Callis Duffin, Rachid Tazi-Ahnini, Zhan Su, Gerald G. Krueger, Trevor Markham, Richard C. Trembath, Philip E. Stuart, Gonçalo R. Abecasis, Nicholas Craddock, Céline Bellenguez, Serge Dronov, Clive R. Pullinger, Eleni Giannoulatou, A. David Burden, Damjan Vukcevic, Andrew Miner, Cheryl F. Rosen, L. Barnes, Sarah L. Spain, Mona Ståhle, Naomi Hammond, Rhian Gwilliam, Sarah E. Hunt, Frank O. Nestle, Xavier Estivill, Panos Deloukas, Phil Gallagher, Annica Inerot, Judith Conroy, Helen S. Young, Stephen J. Sawcer, Bruce F. Bebo, Isis Ricaño-Ponce, Juha Kere, Pamela Whittaker, John P. Kane, Anne M. Bowcock, Christopher E.M. Griffiths, W.H. Irwin McLean, Tilo Henseler, Juliane Winkelmann, Michael Weichenthal, Tõnu Esko, Ulrich Mrowietz, Jo Knight, Bing Jian Feng, André Reis, Sulev Kõks, Elvira Bramon, Nicholas W. Wood, Alagurevathi Jayakumar, Colin Freeman, Carlo Perricone, Yun Li, Chris C. A. Spencer, Pui Kwok, Robert Plomin, Ann B. Begovich, Francesca Capon, Carol Wise, Andres Metspalu, Caitriona Cusack, Oliver FitzGerald, Matti Pirinen, Michelle Ricketts, Rajan P. Neir, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Subjects
Candidate gene, T-Lymphocytes, Genome-wide association study, Disease, DEAD-box RNA Helicases, 0302 clinical medicine, T-CELL DEVELOPMENT, Receptors, Immunologic, MULTIPLE COMMON, Oligonucleotide Array Sequence Analysis, Skin, GENE-EXPRESSION, Genetics, 0303 health sciences, GTPase-Activating Proteins, CELIAC-DISEASE, COMMON VARIANTS, 3. Good health, 030220 oncology & carcinogenesis, DEAD Box Protein 58, STAT3 Transcription Factor, Biology, Polymorphism, Single Nucleotide, White People, Article, TH17 DIFFERENTIATION, SIGNALING PATHWAYS, 03 medical and health sciences, Psoriasis, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, 030304 developmental biology, Genetic association, Innate immune system, INTERFERON-GAMMA, Membrane Proteins, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], NEGATIVE REGULATOR, medicine.disease, Immunity, Innate, Genetic architecture, CARD Signaling Adaptor Proteins, Core Binding Factor Alpha 3 Subunit, Settore MED/03 - Genetica Medica, Genetic Loci, Guanylate Cyclase, Genome-Wide Association Study
Abstract

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as RUNX3, TAGAP and STAT3). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (DDX58), macrophage activation (ZC3H12C) and nuclear factor (NF)-κB signaling (CARD14 and CARM1). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense. © 2012 Nature America, Inc. All rights reserved.

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