Low frequency and rare coding variation contributes to multiple sclerosis risk

Autor: Fredrik Karpe, Graeme Stewart, Jan Hillert, Elisabetta Mascia, Matt J. Neville, Verena Grummel, Jonathan L. Haines, Kate Fitzgerald, Bernhard Hemmer, Julia Y Mescheriakova, Benedicte A. Lie, Efthimios Luessi, Federica Esposito, Andreas Ziegler, Ioanna Konidari, Cristin McCabe, Keith R. Edwards, Roland Martin, Daniele Cusi, Elisabeth Gulowsen Celius, Cristina Agliardi, Anne Spurkland, Georgios M. Hadjigeorgiou, Lena Guillot-Noel, Antonios Bayas, Uwe K. Zettl, Kjell-Morten Myhr, Maria Ban, Rogier Q. Hintzen, Frauke Zipp, Mireia Sospedra, Till F. M. Andlauer, Adrian J. Ivinson, Mary F. Davis, Mark Lathrop, Daniela Galimberti, Pierre-Antoine Gourraud, Genevieve Lachance, Bruce A.C. Cree, Robin Lemmens, Ashley Beecham, Steffan D. Bos, Bruce V. Taylor, Maurizio Leone, Manuel Comabella, Maja Jagodic, Helle Bach Søndergaard, David A. Hafler, Ingrid Kockum, Nadia Barizzone, Ralf Gold, Tania Kümpfel, Per Soelberg Sørensen, Seema Kalra, An Goris, Philip Van Damme, Marie B. D'hooghe, Cathy Schaefer, Efthimios Dardiotis, Alastair Compston, Lotti Tajoori, Sandra D'Alfonso, Ilijas Jelcic, Stephen Sawcer, Brigitte Wildemann, Friedemann Paul, Lise Wegner Thoerner, Silvia Delgado, Tomas Olsson, Mitja Mitrovic, Hayrettin Tumani, Henrik Ullum, Lisa F. Barcellos, Xavier Montalban, Ellen Lathi, Finn Sellebjerg, Thomas Werge, Christina M. Lill, Pernilla Stridh, Paul I.W. de Bakker, Cornelia M. van Duijn, Jyoti Khadake, Jac Charlesworth, Melissa Sorosina, Christiane Gasperi, Stephen L. Hauser, Anne H. Cross, Isabelle Cournu-Rebeix, Nikolaos A. Patsopoulos, Fredrik Piehl, Lars Alfredsson, Bertrand Fontaine, Marieme Dembele, Margaret A. Pericak-Vance, Janna Saarela, Ulf Ziemann, Annette Bang Oturai, Stacy J. Caillier, Jorge R. Oksenberg, Bénédicte Dubois, Björn Tackenberg, Christoph Heesen, Jacob L. McCauley, Florian Then Bergh, Clemens Warnke, Sergio E. Baranzini, Peter A. Calabresi, Chris Cotsapas, Clive Hawkins, Martin Stangel, Hakon Hakonarson, Sandra Vukusik, Christiane Graetz, Heinz Wiendl, Howard L. Weiner, Laura Piccio, Giancarlo Comi, Ralf A. Linker, Luisa Bernardinelli, Cristoforo Comi, Filippo Martinelli-Boneschi, Hanne F. Harbo, Dorothea Buck, Clara P. Manrique, David R. Booth, Benjamin Knier, Philip L. De Jager, Viola Pongratz, Laura Ferrè, Vincent Damotte, Adam Santaniello, Theresa Dankowski, Pirro G. Hysi

Multiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies (Patsopoulos et al., 2017). Multiple strand

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