Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Borghini, Lisa (Genome Institute of Singapore)
Png, Eileen (Genome Institute of Singapore)
Binder, Alexander (Medical University of Graz)
Wright, Victoria (Imperial College London)
Pinnock, Ellie (University of Warwick)
de Groot, Ronald (Radboud University Medical Center)
Hazelzet, Jan (University Medical Center)
Emonts, Marieke (Great North Children's Hospital)
van der Flier, Michiel (Radboud University Medical Center)
Schlapbach, Luregn J. (University of Bern)
Anderson, Suzanne (Medical Research Council Unit Gambia)
Secka, Fatou (Medical Research Council Unit Gambia)
Salas, Antonio (Hospital Clínico Universitario (Santiago de Compostela, Galícia))
Fink, Colin (University of Warwick)
Carrol, Enitan D. (University of Liverpool)
Pollard, Andrew J. (University of Oxford and the NIHR Oxford Biomedical Research Centre)
Coin, Lachlan J. (The University of Queensland)
Kuijpers, Taco W. (Emma Children's Hospital Academic Medical Center)
Martinon-Torres, Federico (Instituto de Investigación Sanitaria de Santiago (IDIS))
Zenz, Werner (Medical University of Graz)
Levin, Michael (Imperial College London)
Hibberd, Martin L. (London School of Hygiene & Tropical Medicine)
Davila, Sonia (Duke-NUS Medical School)
Gormley, Stuart (Imperial College London)
Hamilton, Shea (Imperial College London)
Herberg, Jethro (Imperial College London)
Hourmat, Bernardo (Imperial College London)
Hoggart, Clive (Imperial College London)
Kaforou, Myrsini (Imperial College London)
Sancho-Shimizu, Vanessa (Imperial College London)
Abdulla, Amina (Imperial College London)
Agapow, Paul (Imperial College London)
Bartlett, Maeve (Imperial College London)
Bellos, Evangelos (Imperial College London)
Eleftherohorinou, Hariklia (Imperial College London)
Galassini, Rachel (Imperial College London)
Inwald, David (Imperial College London)
Mashbat, Meg (Imperial College London)
Menikou, Stefanie (Imperial College London)
Mustafa, Sobia (Imperial College London)
Nadel, Simon (Imperial College London)
Rahman, Rahmeen (Imperial College London)
Thakker, Clare (Imperial College London)
Bokhandi, S. (Poole Hospital NHS Foundation Trust)
Power, Sue (Poole Hospital NHS Foundation Trust)
Barham, Heather (Poole Hospital NHS Foundation Trust)
Pathan, N. (Cambridge University Hospitals NHS Trust)
Ridout, Jenna (Cambridge University Hospitals NHS Trust)
White, Deborah (Cambridge University Hospitals NHS Trust)
Thurston, Sarah (Cambridge University Hospitals NHS Trust)
Faust, S. (University Hospital Southampton)
Patel, S. (University Hospital Southampton)
McCorkell, Jenni (University Hospital Southampton)
Davies, P. (Nottingham University Hospital NHS Trust)
Cratev, Lindsey (Nottingham University Hospital NHS Trust)
Navarra, Helen (Nottingham University Hospital NHS Trust)
Carter, Stephanie (Nottingham University Hospital NHS Trust)
Ramaiah, R. (University Hospitals of Leicester NHS Trust)
Patel, Rekha (University Hospitals of Leicester NHS Trust)
Tuffrey, Catherine (Portsmouth Hospitals NHS Trust)
Gribbin, Andrew (Portsmouth Hospitals NHS Trust)
McCready, Sharon (Portsmouth Hospitals NHS Trust)
Peters, Mark (Portsmouth Hospitals NHS Trust)
Hardy, Katie (Portsmouth Hospitals NHS Trust)
Standing, Fran (Portsmouth Hospitals NHS Trust)
O'Neill, Lauren (Portsmouth Hospitals NHS Trust)
Abelake, Eugenia (Portsmouth Hospitals NHS Trust)
Deep, Akash (King's College Hospital NHS Foundation Trust)
Nsirim, Eniola (King's College Hospital NHS Foundation Trust)
Willis, Louise (University of Oxford)
Young, Zoe (University of Oxford)
Royad, C. (Kettering General Hospital NHS Foundation Trust)
White, Sonia (Kettering General Hospital NHS Foundation Trust)
Fortune, P.M. (Central Manchester NHS Trust)
Hudnott, Phil (Central Manchester NHS Trust)
González, Férnando Álvez (Instituto de Investigación Sanitaria de Santiago (IDIS))
Barral-Arca, Ruth (Instituto de Investigación Sanitaria de Santiago (IDIS))
Cebey-López, Miriam (Instituto de Investigación Sanitaria de Santiago (IDIS))
Curras-Tuala, María José (Instituto de Investigación Sanitaria de Santiago (IDIS))
García, Natalia (Instituto de Investigación Sanitaria de Santiago (IDIS))
Vicente, Luisa García (Instituto de Investigación Sanitaria de Santiago (IDIS))
Gómez-Carballa, Alberto (Instituto de Investigación Sanitaria de Santiago (IDIS))
Rial, José Gómez (Instituto de Investigación Sanitaria de Santiago (IDIS))
Beiroa, Andrea Grela (Instituto de Investigación Sanitaria de Santiago (IDIS))
Grande, Antonio Justicia (Instituto de Investigación Sanitaria de Santiago (IDIS))
Iglesias, Pilar Leboráns (Instituto de Investigación Sanitaria de Santiago (IDIS))
Santos, Alaba Elena Martínez (Instituto de Investigación Sanitaria de Santiago (IDIS))
Martinón-Torres, Nazareth (Instituto de Investigación Sanitaria de Santiago (IDIS))
Sánchez, José María Martinón (Instituto de Investigación Sanitaria de Santiago (IDIS))
Pérez, Belén Mosquera (Instituto de Investigación Sanitaria de Santiago (IDIS))
Pacheco, Pablo Obando (Instituto de Investigación Sanitaria de Santiago (IDIS))
Pardo-Seco, Jacobo (Instituto de Investigación Sanitaria de Santiago (IDIS))
Pischedda, Sara (Instituto de Investigación Sanitaria de Santiago (IDIS))
Calle, Irene Rivero (Instituto de Investigación Sanitaria de Santiago (IDIS))
Rodríguez-Tenreiro, Carmen (Instituto de Investigación Sanitaria de Santiago (IDIS))
Redondo-Collazo, Lorenzo (Instituto de Investigación Sanitaria de Santiago (IDIS))
Fernández, Sonia Serén (Instituto de Investigación Sanitaria de Santiago (IDIS))
Silva, María del Sol Porto (Instituto de Investigación Sanitaria de Santiago (IDIS))
Vega, Ana (Universidade de Santiago de Compostela (USC))
Reyes, Susana Beatriz (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
León, María Cruz León (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Mingorance, Álvaro Navarro (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Barrios, Xavier Gabaldó (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Vergara, Eider Oñate (Hospital de Donostia (Sant Sebastià, País Basc))
Torre, Andrés Concha (Hospital Universitario Central de Asturias)
Vivanco, Ana (Hospital Universitario Central de Asturias)
Fernández, Reyes (Hospital Universitario Central de Asturias)
Sánchez, Francisco Giménez (Complejo Hospitalario Torrecárdenas (Almeria))
Forte, Miguel Sánchez (Complejo Hospitalario Torrecárdenas (Almeria))
Rojo, Pablo (Hospital 12 de Octubre (Madrid))
Contreras, J.Ruiz (Hospital 12 de Octubre (Madrid))
Palacios, Alba (Hospital 12 de Octubre (Madrid))
Navarro, Marisa (Hospital General Universitario Gregorio Marañón)
Álvarez, Cristina Álvarez (Hospital General Universitario Gregorio Marañón)
Lozano, María José (Hospital General Universitario Gregorio Marañón)
Carreras, Eduardo (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Brió Sanagustín, Sonia (Institut d'Investigació Biomèdica Sant Pau)
Neth, Olaf (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Padilla, Ma del Carmen Martínez (Complejo Hospitalario de Jaén)
Tato, Luis Manuel Prieto (Hospital Universitario de Getafe (Madrid))
Guillén, Sara (Hospital Universitario de Getafe (Madrid))
Silveira, Laura Fernández (Hospital Universitari i Politècnic La Fe (València))
Moreno, David (Hospital Regional Universitario Carlos Haya (Málaga))
van Furth, A.M.Tutu (Vrije Universiteit University Medical Center)
van der Flier, Michiel (Radboud University Medical Center)
Boeddha, N.P. (University Medical Center)
Driessen, G.J.A. (University Medical Center)
Pajkrt, D. (Emma Children's Hospital Academic Medical Center)
Sanders, E.A.M. (University Medical Center Utrecht - Wilhelmina Children's Hospital)
van de Beek, D. (University of Amsterdam)
van der Ende, A. (University of Amsterdam)
Philipsen, H.L.A. (Radboud University Medical Center)
Adeel, A.O.A. (Kennemer Gasthuis)
Breukels, M.A. (Elkerliek Hospital)
Brinkman, Daniëlle M.C (Alrijne Hospital)
de Korte, C.C.M.M. (Beatrix Hospital)
de Vries, E. (Jeroen Bosch Hospital)
de Waal, W.J. (Diakonessenhuis)
Dekkers, R. (Maasziekenhuis Pantein)
Dings-Lammertink, A. (Gelre Hospitals)
Doedens, R.A. (Martini Hospital)
Donker, A.E. (Maxima Medical Center)
Dousma, M. (Gemini Hospital)
Faber, T.E. (Medical Center Leeuwarden)
Gerrits, G.P.J.M. (Canisius-Wilhelmina Hospital)
Gerver, J.A.M. (Rode Kruis Hospital)
Heidema, J. (St. Antonius Hospital)
Homan-van der Veen, J. (Deventer Hospital)
Jacobs, M.A.M. (Slingeland Hospital)
Jansen, N.J.G. (University Medical Center Utrecht - Wilhelmina Children's Hospital)
Kawczynski, P. (Refaja Hospital)
Klucovska, K. (Bethesda Hospital)
Kneyber, M.C.J. (University Medical Center Groningen. Beatrix Children's hospital)
Koopman-Keemink, Y. (Haga Hospital - Juliana Children's Hospital)
Langenhorst, V.J. (Isala Hospital)
Leusink, J. (Bernhoven Hospital)
Loza, B.F. (VieCuri Medical Center)
Merth, I.T. (Ziekenhuisgroep Twente)
Miedema, C.J. (Catharina Hospital)
Neeleman, C. (Radboud University Medical Center)
Noordzij, J.G. (Reinier de Graaf Gasthuis)
Obihara, C.C. (ETZ Elisabeth)
van Overbeek-van Gils, A.L.T. (Scheper Hospital)
Poortman, G.H. (St. Jansdal Hospital)
Potgieter, S.T. (Laurentius Hospital)
Potjewijd, J. (Isala Diaconessenhuis)
Rosias, P.P.R. (Zuyderland Medical Center)
Sprong, T. (Canisius-Wilhelmina Hospital)
ten Tussher, G.W. (Westfriesgasthuis)
Thio, B.J. (Medisch Spectrum Twente)
Tramper-Stranders, G.A. (St. Franciscus Gasthuis)
van Deuren, M. (Radboud University Medical Center)
van der Meer, H. (Vrije Universiteit University Medical Center)
van Kuppevelt, A.J.M. (Streekziekenhuis Koningin Beatrix)
van Wermeskerken, A.M. (Flevo Hospital)
Verwijs, W.A. (Zuwe Hofpoort Hospital)
Wolfs, T.F.W. (University Medical Center Utrecht - Wilhelmina Children's Hospital)
Agyeman, Philipp (University of Bern)
Aebi, Christoph (University of Bern)
Berger, Christoph (University Children's Hospital Zurich)
Giannoni, Eric (Infectious Diseases Service. Lausanne University Hospital)
Stocker, Martin (Department of Pediatrics. Children's Hospital Lucerne)
Posfay-Barbe, Klara M. (Geneva University Hospitals)
Heininger, Ulrich (Universitäts-Kinderspital beider Basel. Abt für Infektiologie)
Bernhard-Stirnemann, Sara (Children's Hospital Aarau)
Niederer-Loher, A. (Children's Hospital of Eastern Switzerland St. Gallen)
Kahlert, Christian (Children's Hospital of Eastern Switzerland St. Gallen)
Hasters, Paul (University Hospital Zurich (Suïssa))
Relly, Christa (University Children's Hospital Zurich)
Baer, Walter (Children's Hospital Chur)
Paulus, Stéphane (Alder Hey Children's Hospital)
Frederick, Hannah (Alder Hey Children's Hospital)
Jennings, Rebecca (Alder Hey Children's Hospital)
Johnston, Joanne (Alder Hey Children's Hospital)
Kenwright, Rhian (Alder Hey Children's Hospital)
Agbeko, Rachel (Great North Children's Hospital)
Bojang, Kalifa (Medical Research Council Unit Gambia)
Sarr, Isatou (Medical Research Council Unit Gambia)
Kebbeh, Ngane (Medical Research Council Unit Gambia)
Sey, Gibbi (Medical Research Council Unit Gambia)
Saidykhan, Momodou (Medical Research Council Unit Gambia)
Cole, Fatoumatta (Medical Research Council Unit Gambia)
Thomas, Gilleh (Medical Research Council Unit Gambia)
Antonio, Martin (Medical Research Council Unit Gambia)
Walcher, Wolfgang (Medical University of Graz)
Geishofer, Gotho (Medical University of Graz)
Klobassa, Daniela (Medical University of Graz)
Martin, Müller (Medical University of Graz)
Pfurtscheller, Klaus (Medical University of Graz)
Reiter, Karl (Kinderklinik der LMU München am Dr. von Haunerschen Kinderspital)
Rödl, Siegfried (Medical University of Graz)
Zobel, Gerfried (Medical University of Graz)
Zöhrer, Bettina (Medical University of Graz)
Töpke, Bärbel (Ostalb-Klinikum)
Fucik, Peter (Krankenhaus Amstetten)
Gabriel, Markwart (Klinikum Aschaffenburg)
Penzien, Johann M. (Zentralklinikum Kinderkliniken)
Diab, Gedeon (Kreiskrankenhaus Bad Hersfeld)
Miething, Robert (Diakonie-Krankenhaus)
Deeg, K.H. (Klinikum Bamberg)
Hammer, Jürg (Universitäts-Kinderspital beider Basel)
Heininger, Ulrich (Universitäts-Kinderspital beider Basel)
Varnholt, Verena (Uni-Klinikum Charité)
Schmidt, Andreas (St.-Agnes-Hospital)
Bindl, Lutz (Rheinische Friedrich-Wilhelms-Universität)
Sillaber, Ursula (Landeskrankenhaus Bregenz. Abt für Innere Medizin)
Huemer, Christian (Landeskrankenhaus Bregenz. Abt für Kinderheilkunde)
Meier, Primrose (Zentralkrankenhaus Links d. Weser)
Simic-Schleicher, G. (Zentralkrankenhaus Bremen-Nord)
Markart, Markus (Ospedale di Bressanone)
Pfau, Eberhard (DRK-Krankenhaus Chemnitz-Rabenstein)
Broede, Hans (Klinikum Lippe-Detmold GmbH)
Ausserer, Bernd (Krankenhaus Dornbirn)
Kalhoff, Hermann (Städt. Kliniken Dortmund)
Arpe, Volker (St. Marien-Hospital Düren-Birkesdorf)
Schweitzer-Krantz, Susanne (Evangelisches Krankenhaus)
Kasper, Johannes-Martin (St. Georg Klinikum Eisenach gGmbH)
Loranth, Kathrin (Krankenhaus der Barmherzigen Brüder)
Bittrich, Hans J. (Helios Klinikum Erfurt)
Simma, Burkhard (Landeskrankenhaus Feldkirch)
Klinge, Jens (Klinikum Fürth)
Fedlmaier, Michael (Klinikum Garmisch-Partenkirchen)
Weigand, Nicola (Klinikum Justus-Liebig-Uni-O)
Herting, Egbert (Georg-August Universitäts-Kinderklinik)
Grube, Regina (University Klinik für Neurologie)
Fusch, Christoph (Klinikum d. Ernst-Moritz-Arndt-Universität)
Gruber, Alois (Krankenhaus der Schulschwestern Grieskirchen)
Schimmel, Ulf (Allg. Krankenhaus Hagen GmbH)
Knaufer-Schiefer, Suzanne (Ohrekreis-Klinikum)
Lässig, Wolfgang (Städt. Krankenhaus Martha-Maria Halle-Dölau gGmbH)
Hennenberger, Axel (Kinderkrankenhaus Wilhelmstift)
von der Wense, Axel (Altonaer Kinderkrankenhaus)
Tillmann, Roland (Klinikum Kreis Herford)
Schwarick, Jürgen (Kreiskrankenhaus Herzberg)
Sitzmann, Friedrich C. (University Klinik für Kinder- und Jugendmedizin)
Streif, Werner (University Klinik für Kinder- und Jugendheilkunde Innsbruck)
Müller, Herbert (Klinik Robert-Weixler-Strasse)
Kurnik, Peter (Landeskrankenhaus Klagenfurt)
Groneck, Peter (Kinderklinik der Stadt Köln)
Weiss, Ute (Achenbach-Kreiskrankenhaus)
Gröblacher-Roth, Helene (Landeskrankenhaus Krems a. d. Donau)
Bensch, Jürgen (Vinzentius-Krankenhaus)
Moser, Reinhard (Landeskrankenhaus Leoben)
Schwarz, Rudolf (Landes-Kinderklinik Linz)
Lenz, Kurt (Konventhospital der Barmherzigen Brüder)
Hofmann, Thomas (Evangelisches Krankenhaus)
Göpel, Wolfgang (Med. Universität zu Lübeck)
Schulz, Dietrich (Städtisches Klinikum Lüneburg)
Berger, Thomas (Kantonspital Luzern)
Hauser, Erwin (Landeskrankenhaus Mödling)
Förster, Kai Martin (Städt. Krankenhaus Harlaching)
Peters, Jochen (Kinderklinik der TU München)
Nicolai, T homas (Kinderklinik im Dr. v. Haunerschen Kinderspital)
Kumlien, Björn. (Kinderklinik des Dritten Ordens)
Beckmann, Regina (Dietrich-Bonhoeffer-Klinikum)
Seitz, Christiane (FEK-Friedrich-Ebert-Krankenhaus. Neumünster GmbH)
Hüseman, D. (Ruppiner Kliniken GmbH)
Schürmann, Roland (Städt. Kliniken Neuss Lukaskrankenhaus GmbH)
Ta, Van Hop (Evangelisches Krankenhaus)
Weikmann, Eckart (Landeskrankenhaus Oberwart)
Evert, W. (Städt. Kliniken Offenbach)
Hautz, Jürgen (Klinikum Offenburg)
Seidenberg, Jürgen (Elisabeth-Kinderkrankenhaus)
Wocko, Lucia (Krankenhaus Oranienburg)
Luigs, Petra (St.Vincenz-Krankenhaus Frauen- u. Kinderklinik)
Reiter, Hans-Ludwig (Klinik für Kinder und Jugendliche am Städtischen Klinikum)
Quietzach, J. (Vogtland-Klinikum Plauen GmbH)
König, Michael (Oberschwaben Klinik gGmbH)
Herrmann, Johanna (Kreiskrankenhaus Rendsburg)
Mitter, Horst (Krankenhaus der Barmherzigen Schwestern Ried)
Seidler, Ekkehard (Kreiskrankenhaus Obergöltzsch-Rodewisch)
Maak, Bernhard (Thüringen-Klinik "Georgius Agricola" gGmbH)
Sperl, Wolfgang (Landeskrankenanstalten Salzburg)
Zwiauer, Karl (Landesklinikum Sankt Pölten)
Meissl, Manfred (Landeskrankenhaus Schärding)
Koch, Reinhard (Leopoldina-Krankenhaus)
Cremer, Manfred (DRK-Kinderklinik Siegen)
Breuer, H.A. (Städt. Klinikum Solingen)
Görke, W. (Johanniter Kinderklinik)
Nossal, Robert (Olga Hospital Stuttgart)
Pernice, Walter (Kreiskrankenhaus Torgau)
Brangenberg, alf. (Klinikum Traunstein)
Salzer, Hans R. (Landeskrankenhaus Tulln)
Koch, Hartmut (St. Marien-Hospital)
Schaller, Gerhard (Landeskrankenhaus Villach)
Paky, Franz (Landeskrankenhaus Vöcklabruck)
Straßer, Friedrich (Klinikum Weiden)
Eitelberger, Franz (Krankenhaus der Barmherzigen Schwestern v. heiligen Kreuz)
Sontheimer, D. (Harz-Klinikum Wernigerode GmbH)
Lischka, Andreas (Wilhelminenspital Wien)
Kronberger, Martina (St. Anna Kinderspital)
Dilch, Alfred (Gottfried von Preyersches Kinderspital der Stadt Wien)
Scheibenpflug, Christian (Donauspital im SMZ-Ost der Stadt Wien)
Bruckner, Robert (Krankenhaus Wiener Neustadt)
Mahler, Klaus (St. Elisabeth Krankenhaus)
Runge, Klaus (Zentrum für Kinder- und Jugendmedizin)
Kunze, Wolfgang (Krankenhaus Muldentalkreis Wurzen)
Schermann, Peter (Krankenhaus Zwettl)
Universitat Autònoma de Barcelona

Data:	2019
Resum:	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.
Ajuts:	Ministerio de Economía y Competitividad PI16/01478
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Gene regulation ; Genetic association study ; Meningitis
Publicat a:	Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 6966, ISSN 2045-2322

DOI: 10.1038/s41598-019-43292-6
PMID: 31061469

15 p, 1.7 MB

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