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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Volume 9, No. 1, Article 6966, Year 2019
Notification
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Description
Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA – a NF-kB subunit, master regulator of the response to infection – under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes. © 2019, The Author(s).
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC6502852/bin/41598_2019_43292_MOESM1_ESM.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC6502852/bin/41598_2019_43292_MOESM2_ESM.pdf
Authors & Co-Authors
Borghini, Lisa
Singapore, Singapore City
A-star, Genome Institute of Singapore
Png, Eileen
Singapore, Singapore City
A-star, Genome Institute of Singapore
Binder, Alexander
Austria, Graz
Medizinische Universität Graz
Wright, Victoria J.
United Kingdom, London
Imperial College London
Pinnock, Ellie
United Kingdom, Coventry
University of Warwick
de Groot, Ronald C.A.
Netherlands, Nijmegen
Radboud University Medical Center
Hazelzet, Jan A.
Netherlands, Rotterdam
Erasmus Mc
Emonts, Marieke
United Kingdom, Newcastle
Newcastle University
United Kingdom, Newcastle
The Newcastle Upon Tyne Hospitals Nhs Foundation Trust
van der Flier, Michiel
Netherlands, Nijmegen
Radboud University Medical Center
Schlapbach, Luregn J.
Australia, Brisbane
The University of Queensland
Australia, Brisbane
Children’s Health Queensland
Switzerland, Bern
University of Bern
Anderson, Suzanne T.B.
Gambia, Banjul
Medical Research Council Laboratories Gambia
Secka, Fatou
Gambia, Banjul
Medical Research Council Laboratories Gambia
Salas, Antonio
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Fink, Colin G.
United Kingdom, Coventry
University of Warwick
Carrol, Enitan D.
United Kingdom, Liverpool
University of Liverpool
Pollard, Andrew J.
United Kingdom, Oxford
University of Oxford Medical Sciences Division
Coin, Lachlan J.M.
Australia, Brisbane
The University of Queensland
Kuijpers, T. W.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Martinón-Torres, Federico
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Zenz, Werner M.
Austria, Graz
Medizinische Universität Graz
Levin, Michael L.
United Kingdom, London
Imperial College London
Hibberd, Martin Lloyd
Singapore, Singapore City
A-star, Genome Institute of Singapore
United Kingdom, London
London School of Hygiene & Tropical Medicine
Dávila, Sonia
Singapore, Singapore City
A-star, Genome Institute of Singapore
Singapore, Singapore City
National University of Singapore
Singapore, Singapore City
Duke-nus Medical School
Gormley, Stuart
United Kingdom, London
Imperial College London
Hamilton, Shea
United Kingdom, London
Imperial College London
Herberg, Jethro Adam
United Kingdom, London
Imperial College London
Hourmat, Bernardo
United Kingdom, London
Imperial College London
Hoggart, Clive J.
United Kingdom, London
Imperial College London
Kaforou, Myrsini
United Kingdom, London
Imperial College London
Sancho-Shimizu, Vanessa
United Kingdom, London
Imperial College London
Abdulla, Amina F.
United Kingdom, London
Imperial College London
Agapow, Paul Michael
United Kingdom, London
Imperial College London
Bartlett, Maeve
United Kingdom, London
Imperial College London
Bellos, Evangelos
United Kingdom, London
Imperial College London
Eleftherohorinou, Hariklia
United Kingdom, London
Imperial College London
Galassini, Rachel
United Kingdom, London
Imperial College London
Inwald, David Philip
United Kingdom, London
Imperial College London
Mashbat, Meg
United Kingdom, London
Imperial College London
Menikou, Stephanie
United Kingdom, London
Imperial College London
Mustafa, Sobia
United Kingdom, London
Imperial College London
Nadel, Simon
United Kingdom, London
Imperial College London
Rahman, Rahmeen
United Kingdom, London
Imperial College London
Thakker, Clare
United Kingdom, London
Imperial College London
Bokhandi, Sumit S.
United Kingdom, Poole
University Hospitals Dorset Nhs Foundation Trust
Power, Sue
United Kingdom, Poole
University Hospitals Dorset Nhs Foundation Trust
Barham, Heather
United Kingdom, Poole
University Hospitals Dorset Nhs Foundation Trust
Pathan, Nazima
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
Ridout, Jenna A.
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
White, Deborah K.
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
Thurston, Sarah
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
Faust, Saul N.
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Patel, Sanjay Valabh
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
McCorkell, Jenni
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Davies, Patrick R.F.
United Kingdom, Nottingham
Nottingham University Hospitals Nhs Trust
Cratev, Lindsey
United Kingdom, Nottingham
Nottingham University Hospitals Nhs Trust
Navarra, Helen
United Kingdom, Nottingham
Nottingham University Hospitals Nhs Trust
Carter, Stephanie
United Kingdom, Nottingham
Nottingham University Hospitals Nhs Trust
Ramaiah, Raghu
United Kingdom, Leicester
University Hospitals of Leicester Nhs Trust
Patel, Rekha
United Kingdom, Leicester
University Hospitals of Leicester Nhs Trust
Tuffrey, Catherine
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
Gribbin, Andrew
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
McCready, Sharon
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
Peters, Mark John
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
Hardy, Katie
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
Standing, Fran
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
O’Neill, Lauran
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
Abelake, Eugenia
United Kingdom, Portsmouth
Portsmouth Hospitals University Nhs Trust
Deep, Akash
United Kingdom, London
King's College Hospital Nhs Foundation Trust
Nsirim, Eniola
United Kingdom, London
King's College Hospital Nhs Foundation Trust
Willis, Louise
United Kingdom, Oxford
University of Oxford Medical Sciences Division
Young, Zoe
United Kingdom, Oxford
University of Oxford Medical Sciences Division
Royad, C.
United Kingdom, Kettering
Kettering General Hospital Nhs Foundation Trust
White, Sonia
United Kingdom, Kettering
Kettering General Hospital Nhs Foundation Trust
Fortune, Peter Marc
United Kingdom, Manchester
Manchester University Nhs Foundation Trust
Hudnott, Phil
United Kingdom, Manchester
Manchester University Nhs Foundation Trust
González, Fernando Álvez
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Barral-Arca, Ruth
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Cebey-López, Miriam
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Currás-Tuala, María José
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
García, Natalia
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Vicente, Luisa García
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Gõmez-Carballa, Alberto
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Rial, Jose Gómez
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Beiroa, Andrea Grela
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Grande, Antonio Justicia
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Iglesias, Pilar Leboráns
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Santos, Alba Elena Martínez
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Martinón-Torres, Nazareth
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Sánchez, José María
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Pérez, Belén Mosquera
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Pacheco, Pablo Obando
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Pardo-Seco, Jacobo
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Pischedda, Sara
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Calle, Irene Rivero
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Rodríguez-Tenreiro, Carmen
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Redondo Collazo, Lorenzo
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Fernández, Sonia Serén
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Silva, María Del Sol Porto
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Vega, Ana Karina
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Spain, Santiago
Instituto de Investigación Sanitaria de Santiago
Spain, Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela
Reyes, Susana Beatriz
Spain, Murcia
Hospital Clínico Universitario Virgen de la Arrixaca
Torre, Andrés Concha
Spain, Oviedo
Hospital Universitario Central de Asturias
Sánchez, Francisco Giménez
Spain, Almeria
Complejo Hospitalario Torrecardenas de Almeria
Rojo, Pablo
Spain, Madrid
Hospital Universitario 12 de Octubre
Navarro, Marisa Luisa
Spain, Madrid
Hospital General Universitario Gregorio Marañón
Prieto, Luis M.
Spain, Getafe
Hospital Universitario de Getafe
Guillén Martín, Sara
Spain, Getafe
Hospital Universitario de Getafe
Van Furth, A. M.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Boeddha, Navin P.
Netherlands, Rotterdam
Erasmus Mc
Driessen, Gertjan Jan A.
Netherlands, Rotterdam
Erasmus Mc
Pajkrt, Dasja
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Sanders, Elisabeth A.M.(Elisabeth)
Netherlands, Utrecht
Wilhelmina Kinderziekenhuis
van de Beek, Diederik V.D.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
van der Ende, Arie D.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
de Vries, Esther
Netherlands, 's-hertogenbosch
Jeroen Bosch Hospital
Jansen, Nicolaas Johannes Georgius
Netherlands, Utrecht
Wilhelmina Kinderziekenhuis
Kneyber, Martin Christiaan Jacques
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Noordzij, Jeroen G.
Netherlands, Delft
Reinier de Graaf Hospital - Ssdz
Obihara, Charlie C.C.
Unknown Affiliation
van Wermeskerken, Anne Marie
Unknown Affiliation
Wolfs, Tom F.W.
Netherlands, Utrecht
Wilhelmina Kinderziekenhuis
Agyeman, Philipp Kwame Abayie
Switzerland, Bern
University of Bern
Berger, Christoph Tobias
Switzerland, Bern
University of Bern
Switzerland, Zurich
Kinderspital Zürich
Pósfay-Barbe, Klara Maria
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Heininger, Ulrich
Switzerland, Basel
Universitäts-kinderspital Beider Basel
Kahlert, Christian R.
Switzerland, St Gallen
Children's Hospital of Eastern Switzerland
Paulus, Stéphane C.
United Kingdom, Liverpool
Alder Hey Children's Hospital
Jennings, Rebecca J.
United Kingdom, Liverpool
Alder Hey Children's Hospital
Agbeko, Rachel Sarah
United Kingdom, Newcastle
Newcastle University
United Kingdom, Newcastle
The Newcastle Upon Tyne Hospitals Nhs Foundation Trust
Bojang, Kalifa A.
Gambia, Banjul
Medical Research Council Laboratories Gambia
Sarr, Isatou
Gambia, Banjul
Medical Research Council Laboratories Gambia
Kebbeh, Ngange
Gambia, Banjul
Medical Research Council Laboratories Gambia
Sey, Gibbi
Gambia, Banjul
Medical Research Council Laboratories Gambia
Antonio, Martin
Gambia, Banjul
Medical Research Council Laboratories Gambia
Klobassa, Daniela Sabine
Austria, Graz
Medizinische Universität Graz
Reiter, Karl
Germany, Munich
Ludwig-maximilians-universität München
Hammer, Jürg
Switzerland, Basel
Universitäts-kinderspital Beider Basel
Bindl, Lutz
Germany, Bonn
Universität Bonn
Huemer, Christian
Austria, Bregenz
Landeskrankenhaus Bregenz
Ŝimić-Schleicher, Gunter
Unknown Affiliation
Herting, Egbert
Germany, Gottingen
Universitätsmedizin Göttingen
Fusch, Christoph
Germany, Greifswald
Universitätsmedizin Greifswald
Groneck, Peter A.
Unknown Affiliation
Schwarz, Rudolf C.
Austria, Linz
Kepler Universitätsklinikum
Göpel, Wolfgang
Germany, Lubeck
Universität zu Lübeck
Sperl, Wolfgang J.K.
Austria, Salzburg
Salzburger Landeskliniken
Koch, Hartmut H.
Germany, Vechta
St. Marien Hospital Vechta
Statistics
Citations: 4
Authors: 146
Affiliations: 119
Identifiers
Doi:
10.1038/s41598-019-43292-6
ISSN:
20452322
Research Areas
Genetics And Genomics
Study Design
Cohort Study