作者
Mitja Mitrovič, Nikolaos A Patsopoulos, Ashley H Beecham, Theresa Dankowski, An Goris, Bénédicte Dubois, Marie B D’hooghe, Robin Lemmens, Philip Van Damme, Helle Bach Søndergaard, Finn Sellebjerg, Per Soelberg Sorensen, Henrik Ullum, Lise W Thørner, Thomas Werge, Janna Saarela, Isabelle Cournu-Rebeix, Vincent Damotte, Bertrand Fontaine, Lena Guillot-Noel, Mark Lathrop, Sandra Vukusik, Pierre-Antoine Gourraud, Till FM Andlauer, Viola Pongratz, Dorothea Buck, Christiane Gasperi, Antonios Bayas, Christoph Heesen, Tania Kümpfel, Ralf Linker, Friedemann Paul, Martin Stangel, Björn Tackenberg, Florian Then Bergh, Clemens Warnke, Heinz Wiendl, Brigitte Wildemann, Uwe Zettl, Ulf Ziemann, Hayrettin Tumani, Ralf Gold, Verena Grummel, Bernhard Hemmer, Benjamin Knier, Christina M Lill, Felix Luessi, Efthimios Dardiotis, Cristina Agliardi, Nadia Barizzone, Elisabetta Mascia, Luisa Bernardinelli, Giancarlo Comi, Daniele Cusi, Federica Esposito, Laura Ferrè, Cristoforo Comi, Daniela Galimberti, Maurizio A Leone, Melissa Sorosina, Julia Mescheriakova, Rogier Hintzen, Cornelia van Duijn, Charlotte E Teunissen, Steffan D Bos, Kjell-Morten Myhr, Elisabeth G Celius, Benedicte A Lie, Anne Spurkland, Manuel Comabella, Xavier Montalban, Lars Alfredsson, Pernilla Stridh, Jan Hillert, Maja Jagodic, Fredrik Piehl, Ilijas Jelčić, Roland Martin, Mireia Sospedra, Maria Ban, Clive Hawkins, Pirro Hysi, Seema Kalra, Fredrik Karpe, Jyoti Khadake, Genevieve Lachance, Matthew Neville, Adam Santaniello, Stacy J Caillier, Peter A Calabresi, Bruce AC Cree, Anne Cross, Mary F Davis, Jonathan L Haines, Paul IW de Bakker, Silvia Delgado, Marieme Dembele, Keith Edwards, Kathryn C Fitzgerald, Hakon Hakonarson, Ioanna Konidari, Ellen Lathi, Clara P Manrique, Margaret A Pericak-Vance, Laura Piccio, Cathy Schaefer, Cristin McCabe, Howard Weiner, Jacqueline Goldstein, Tomas Olsson, Georgios Hadjigeorgiou, Bruce Taylor, Lotti Tajouri, Jac Charlesworth, David R Booth, Hanne F Harbo, Adrian J Ivinson, Stephen L Hauser, Alastair Compston, Graeme Stewart, Frauke Zipp, Lisa F Barcellos, Sergio E Baranzini, Filippo Martinelli-Boneschi, Sandra D’alfonso, Andreas Ziegler, Annette Oturai, Jacob L McCauley, Stephen J Sawcer, Jorge R Oksenberg, Philip L De Jager, Ingrid Kockum, David A Hafler, Chris Cotsapas
发表日期
2018/11/29
期刊
Cell
卷号
175
期号
6
页码范围
1679-1687. e7
出版商
Elsevier
简介
Multiple sclerosis is a complex neurological disease, with ∼20% of risk heritability attributable to common genetic variants, including >230 identified by genome-wide association studies. Multiple strands of evidence suggest that much of the remaining heritability is also due to additive effects of common variants rather than epistasis between these variants or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that up to 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independently of common-variant signals, highlighting key pathogenic roles for regulatory T cell homeostasis and regulation, IFNγ biology, and NFκB signaling. As low-frequency variants do not show substantial linkage disequilibrium with other variants, and as coding variants are more interpretable and experimentally tractable than …
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