Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Research output: Contribution to journalArticle


title = "Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis",
abstract = "Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 x 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 x 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.",
author = "Beecham, {Ashley H.} and Patsopoulos, {Nikolaos A.} and Xifara, {Dionysia K.} and Davis, {Mary F.} and Anu Kemppinen and Chris Cotsapas and Shah, {Tejas S.} and Chris Spencer and David Booth and An Goris and Annette Oturai and Janna Saarela and Bertrand Fontaine and Bernhard Hemmer and Claes Martin and Frauke Zipp and Sandra D'Alfonso and Filippo Martinelli-Boneschi and Bruce Taylor and Harbo, {Hanne F.} and Ingrid Kockum and Jan Hillert and Tomas Olsson and Maria Ban and Oksenberg, {Jorge R.} and Rogier Hintzen and Barcellos, {Lisa F.} and Cristina Agliardi and Lars Alfredsson and Mehdi Alizadeh and Carl Anderson and Robert Andrews and Sondergaard, {Helle Bach} and Amie Baker and Gavin Band and Baranzini, {Sergio E.} and Nadia Barizzone and Jeffrey Barrett and Celine Bellenguez and Laura Bergamaschi and Luisa Bernardinelli and Achim Berthele and Viola Biberacher and Binder, {Thomas M. C.} and Hannah Blackburn and Bomfim, {Izaura L.} and Paola Brambilla and Simon Broadley and Bruno Brochet and Lou Brundin and Dorothea Buck and Helmut Butzkueven and Caillier, {Stacy J.} and William Camu and Wassila Carpentier and Paola Cavalla and Celius, {Elisabeth G.} and Irene Coman and Giancarlo Comi and Lucia Corrado and Leentje Cosemans and Isabelle Cournu-Rebeix and Cree, {Bruce A. C.} and Daniele Cusi and Vincent Damotte and Gilles Defer and Delgado, {Silvia R.} and Panos Deloukas and {di Sapio}, Alessia and Dilthey, {Alexander T.} and Peter Donnelly and Benedicte Dubois and Martin Duddy and Sarah Edkins and Irina Elovaara and Federica Esposito and Nikos Evangelou and Barnaby Fiddes and Judith Field and Andre Franke and Colin Freeman and Frohlich, {Irene Y.} and Daniela Galimberti and Christian Gieger and Pierre-Antoine Gourraud and Christiane Graetz and Andrew Graham and Verena Grummel and Clara Guaschino and Athena Hadjixenofontos and Hakon Hakonarson and Christopher Halfpenny and Gillian Hall and Per Hall and Anders Hamsten and James Harley and Timothy Harrower and Clive Hawkins and Garrett Hellenthal and Charles Hillier and Jeremy Hobart and Muni Hoshi and Hunt, {Sarah E.} and Maja Jagodic and Ilijas Jelcic and Angela Jochim and Brian Kendall and Allan Kermode and Trevor Kilpatrick and Keijo Koivisto and Ioanna Konidari and Thomas Korn and Helena Kronsbein and Cordelia Langford and Malin Larsson and Mark Lathrop and Christine Lebrun-Frenay and Jeannette Lechner-Scott and Lee, {Michelle H.} and Leone, {Maurizio A.} and Virpi Leppa and Giuseppe Liberatore and Lie, {Benedicte A.} and Lill, {Christina M.} and Magdalena Linden and Jenny Link and Felix Luessi and Jan Lycke and Fabio Macciardi and Satu Mannisto and Manrique, {Clara P.} and Roland Martin and Vittorio Martinelli and Deborah Mason and Gordon Mazibrada and Cristin McCabe and Inger-Lise Mero and Julia Mescheriakova and Loukas Moutsianas and Kjell-Morten Myhr and Guy Nagels and Richard Nicholas and Petra Nilsson and Fredrik Piehl and Matti Pirinen and Price, {Sian E.} and Hong Quach and Mauri Reunanen and Wim Robberecht and Robertson, {Neil P.} and Mariaemma Rodegher and David Rog and Marco Salvetti and Schnetz-Boutaud, {Nathalie C.} and Finn Sellebjerg and Selter, {Rebecca C.} and Catherine Schaefer and Sandip Shaunak and Ling Shen and Simon Shields and Volker Siffrin and Mark Slee and Sorensen, {Per Soelberg} and Melissa Sorosina and Mireia Sospedra and Anne Spurkland and Amy Strange and Emilie Sundqvist and Vincent Thijs and John Thorpe and Anna Ticca and Pentti Tienari and {van Duijn}, Cornelia and Visser, {Elizabeth M.} and Steve Vucic and Helga Westerlind and Wiley, {James S.} and Alastair Wilkins and Wilson, {James F.} and Juliane Winkelmann and John Zajicek and Eva Zindler and Haines, {Jonathan L.} and Pericak-Vance, {Margaret A.} and Ivinson, {Adrian J.} and Graeme Stewart and David Hafler and Hauser, {Stephen L.} and Alastair Compston and Gil McVean and {De Jager}, Philip and Sawcer, {Stephen J.} and McCauley, {Jacob L.}",
year = "2013",
doi = "10.1038/ng.2770",
language = "English",
volume = "45",
pages = "1353",
journal = "Nature Genetics",
issn = "1546-1718",
publisher = "Nature Publishing Group",
number = "11",