Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.
作者:
Vikrant,Kumar [1]
;
Richard B,Pouw [2]
;
Matias I,Autio [3]
;
Manfred G,Sagmeister [4]
;
Zai Yang,Phua [5]
;
Lisa,Borghini [6]
;
Victoria J,Wright [7]
;
Clive,Hoggart [7]
;
Bangfen,Pan [3]
;
Antson Kiat Yee,Tan [8]
;
Alexander,Binder [4]
;
Mieke C,Brouwer [9]
;
Ellie,Pinnock [10]
;
Ronald,De Groot [11]
;
Jan,Hazelzet [12]
;
Marieke,Emonts [13]
;
Michiel,Van Der Flier [14]
;
Karl,Reiter [15]
;
Markus M,Nöthen [16]
;
Per,Hoffmann [16]
;
EUCLIDS consortium [17]
;
Luregn J,Schlapbach [7]
;
Evangelos,Bellos [18]
;
Suzanne,Anderson [18]
;
Fatou,Secka [19]
;
Federico,Martinón-Torres [20]
;
Antonio,Salas [10]
;
Colin,Fink [21]
;
Enitan D,Carrol [22]
;
Andrew J,Pollard [23]
;
Lachlan J,Coin [4]
;
Werner,Zenz [9]
;
Diana,Wouters [8]
;
Lay Teng,Ang [24]
;
Martin L,Hibberd [7]
;
Michael,Levin [25]
;
Taco W,Kuijpers [26]
;
Sonia,Davila
作者单位:
Human Genetics, Genome Institute of Singapore, Singapore, Singapore; Duke-National University of Singapore Medical School, Singapore, Singapore.
[1]
Division of Pediatric Immunology, Rheumatology, and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, the Netherlands; Department of Immunopathology, Sanquin Research, Amsterdam, the Netherlands; Landsteiner Laboratory, Amsterdam University Medical Centre, Amsterdam Infection and Immunity Institute, Amsterdam, the Netherlands.
[2]
Human Genetics, Genome Institute of Singapore, Singapore, Singapore; Cardiovascular Research Institute, Centre for Translational Medicine, National University Health System, Singapore.
[3]
Department of General Paediatrics, Medical University of Graz, Graz, Austria.
[4]
Human Genetics, Genome Institute of Singapore, Singapore, Singapore.
[5]
Human Genetics, Genome Institute of Singapore, Singapore, Singapore; Unidade de Xenética, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Spain; GenPoB Research Group, Instituto de Investigación Sanitaria de Santiago, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain.
[6]
Section of Paediatric Infectious Disease, Division of Infectious Disease, Department of Medicine, Imperial College London, London, UK.
[7]
Cancer Stem Cell Biology, Genome Institute of Singapore, Singapore, Singapore.
[8]
Department of Immunopathology, Sanquin Research, Amsterdam, the Netherlands; Landsteiner Laboratory, Amsterdam University Medical Centre, Amsterdam Infection and Immunity Institute, Amsterdam, the Netherlands.
[9]
Micropathology, University of Warwick, Coventry, UK.
[10]
Section of Pediatric Infectious Diseases, Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
[11]
Department of Pediatrics, Erasmus Medical Center-Sophia Children's Hospital, University Medical Center, Rotterdam, the Netherlands.
[12]
Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK; National Institute for Health and Care Research Newcastle Biomedical Research Centre Based at Newcastle Upon Tyne Hospitals National Health Service Trust and Newcastle University, Newcastle Upon Tyne, UK; Paediatric Infectious Diseases and Immunology Department, Newcastle Upon Tyne Hospitals Foundation Trust, Great North Children's Hospital, Newcastle Upon Tyne, UK.
[13]
Section of Pediatric Infectious Diseases, Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Paediatric Infectious Diseases and Immunology, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht, the Netherlands.
[14]
Department of Paediatrics, Division of Paediatric Intensive Care Medicine, Ludwig Maximilian University of Munich and Dr. von Hauner's Children's Hospital, Munich, Germany.
[15]
Institute of Human Genetics, University of Bonn, Bonn, Germany.
[16]
Child Health Research Centre, The University of Queensland, Brisbane, Australia; Paediatric Intensive Care Unit, Queensland Children's Hospital, Brisbane, Australia; Department of Intensive Care and Neonatology and Children`s Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
[17]
Medical Research Council Unit Gambia, Banjul, The Gambia.
[18]
Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain; Genetics, Vaccines, Infectious Diseases, and Pediatrics Research Group, Instituto de Investigación Sanitaria de Santiago, Universidad de Santiago de Compostela, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
[19]
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain; Unidade de Xenética, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Spain; GenPoB Research Group, Instituto de Investigación Sanitaria de Santiago, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain.
[20]
Institute of Infection, Veterinary and Ecological Sciences, University of Liverpool, Liverpool, UK.
[21]
Oxford Vaccine Group, Department of Pediatrics, University of Oxford and the NIHR Oxford Biomedical Research Centre, Oxford, UK.
[22]
Department of Microbiology and Immunology, The Peter Doherty Institute for Infection and Immunity, University of Melbourne, Melbourne, VIC, Australia.
[23]
Infectious Diseases, Genome Institute of Singapore, Singapore, Singapore; Infectious and Tropical Disease, London School of Hygiene & Tropical Medicine, London, UK.
[24]
Division of Pediatric Immunology, Rheumatology, and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, the Netherlands. Electronic address: t.w.kuijpers@amsterdamumc.nl.
[25]
Human Genetics, Genome Institute of Singapore, Singapore, Singapore; Duke-National University of Singapore Medical School, Singapore, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore. Electronic address: gmssmdd@nus.edu.sg.
[26]
主题词
血蛋白质类(Blood Proteins);补体因子H(Complement Factor H);补体系统蛋白质类(Complement System Proteins);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);人类(Humans);脑膜炎双球菌感染(Meningococcal Infections)
DOI
10.1016/j.ajhg.2022.08.001
PMID
36007525
发布时间
2022-12-10
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American journal of human genetics
American journal of human genetics
1680-1691页
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