Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
Eva Gonçalves Serra,
Tobias Schwerd,
Loukas Moutsianas,
Athena Cavounidis,
Laura Fachal,
Sumeet Pandey,
Jochen Kammermeier,
Nicholas M. Croft,
Carsten Posovszky,
Astor Rodrigues,
Richard K. Russell,
Farah Barakat,
Marcus K. H. Auth,
Robert Heuschkel,
Matthias Zilbauer,
Krzysztof Fyderek,
Christian Braegger,
Simon P. Travis,
Jack Satsangi,
Miles Parkes,
Nikhil Thapar,
Helen Ferry,
Julie C. Matte,
Kimberly C. Gilmour,
Andrzej Wedrychowicz,
Peter Sullivan,
Carmel Moore,
Jennifer Sambrook,
Willem Ouwehand,
David Roberts,
John Danesh,
Toni A. Baeumler,
Tudor A. Fulga,
Mohammad Karaminejadranjbar,
Ahmed Ahmed,
Rachel Wilson,
Jeffrey C. Barrett,
Abdul Elkadri,
Anne M. Griffiths,
Scott B. Snapper,
Neil Shah,
Aleixo M. Muise,
David C. Wilson,
Holm H. Uhlig,
Carl A. Anderson,
Marlen Zurek,
Caterina Strisciuglio,
Mamoun Elawad,
Bernice Lo,
Carolina Arancibia-Carcamo,
Adam Bailey,
Ellie Barnes,
Elizabeth Louise Bird-Lieberman,
Oliver Brain,
Barbara Braden,
Jane Collier,
James East,
Lucy Howarth,
Satish Keshav,
Paul Klenerman,
Simon Leedham,
Rebecca Palmer,
Fiona Powrie,
Alison Simmons,
Matthew Walker,
Zoe Tolkien,
Stephen Kaptoge,
David Allen,
Susan Mehenny,
Jonathan Mant,
Emanuele Di Angelantonio,
Simon G. Thompson,
Bahtiyar Yilmaz,
Pascal Juillerat,
Markus Geuking,
Reiner Wiest,
Andrew J. Macpherson,
Francisco Damian Bravo,
Lukas Brügger,
Ove Carstens,
Ulrike Graf Bigler,
Benjamin Heimgartner,
Monica Rusticeanu,
Sybille Schmid (-Uebelhart),
Bruno Strebel,
Aurora Tatu,
Radu Tutuian,
Ove Øyås,
Charlotte Ramon,
Jörg Stelling,
Yannick Franc,
Nicolas Fournier,
Valerie E. H. Pittet,
Bernard Burnand,
Mara Egger,
Delphine Golay,
Astrid Marot,
Leilla Musso,
Valérie Pittet,
Jean-Benoît Rossel,
Vivianne Seematter,
Joachim Sommer,
Rachel Vulliamy,
Pierre Michetti,
Michel H. Maillard,
Céline Keller,
Andreas Nydegger,
Alain Schoepfe,
Eva Archanioti,
Jessica Ezri,
Montserrat Fraga,
Alain Schoepfer,
Christoph Müller,
Gerhard Rogler,
Luc Biedermann,
Mirjam Blattmann,
Sabine Burk,
Barbara Dora,
Michael Fried,
Benjamin Misselwitz,
Beat Müllhaupt,
Nicole Obialo,
Daniel Pohl,
Nadia Raschle,
Michael Scharl,
Stephan Vavricka,
Roland Von Känel,
Jonas Zeitz,
Karim Abdelrahman,
Gentiana Ademi,
Jan Borovicka,
Stephan Brand,
Remus Frei,
Johannes Haarer,
Christina Knellwolf (-Grieger),
Claudia Krieger(-Grübel),
Patrizia Künzler,
Christa Meyenberger,
Pamela Meyer,
Nina Röhrich,
Mikael Sawatzki,
Martin Schelling,
Gian-Marco Semadeni,
Michael Sulz,
Dorothee Zimmermann,
Patrick Aepli,
Dominique H. Criblez,
Cyrill Hess,
Jean-Pierre Richterich,
Johannes Spalinger,
Dominic Staudenmann,
Andreas Stulz,
Stefanie Wöhrle,
Amman Thomas,
Claudia Anderegg,
Henrik Köhler,
Rachel Kusche,
Anca-Teodora Antonino,
Eviano Arrigoni,
José M. Bengoa,
Sophie Cunningham,
Philippe de Saussure,
Laurent Girard,
Diana Bakker de Jong,
Polat Bastürk,
Simon Brunner,
Lukas Degen,
Petr Hruz,
Carolina Khalid-de Bakker,
Jan Niess,
Bruno Balsiger,
Janine Haldemann,
Gaby Saner,
Frank Seibold,
Peter Bauerfeind,
Andrea Becocci,
Dominique Belli,
Janek Binek,
Peter Hengstler,
Stephan Boehm,
Tujana Boldanov,
Patrick Bühr,
Rebekka Koller,
Vanessa Rueger,
Arne Senning,
Emanuel Burri,
Sophie Buyse,
Dahlia-Thao Cao,
Fabrizia D’Angelo,
Joakim Delarive,
Christopher Doerig,
Roxane Hessler,
Claudia Preissler,
Ronald Rentsch,
Branislav Risti,
Marc Alain Ritz,
Michael Steuerwald,
Jürg Vögtlin,
Markus Sagmeister,
Bernhard Sauter,
Susanne Schibli,
Christiane Sokollik,
Hugo Schlauri,
Jean-François Schnegg,
Mariam Seirafi,
Holger Spangenberger,
Philippe Stadler,
Peter Staub,
Volker Stenz,
Michela Tempia-Caliera,
Joël Thorens,
Kaspar Truninger,
Patrick Urfer,
Francesco Viani,
Dominique Vouillamoz,
Silvan Zander,
Tina Wyli,
L. Jostins,
N. A. Kennedy,
T. Ahmad,
C. A. Lamb,
C. Edwards,
A. Hart,
C. Hawkey,
J. C. Mansfield,
C. Mowat,
W. G. Newman,
A. Simmons,
M. Tremelling,
J. C. Lee,
N. J. Prescott,
C. G. Mathew,
C. W. Lees,
D. P. B. McGovern,
S. R. Targan,
G. Botwin,
E. Mengesha,
P. Fleshner,
C. Landers,
D. Li,
J. D. Rioux,
A. Bitton,
J. Côté-Daigneault,
M. J. Daly,
R. Xavier,
K. Morris,
G. Boucher,
J. H. Cho,
C. Abraham,
M. Merad,
B. Sands,
I. Peter,
K. Hao,
Y. Itan,
R. H. Duerr,
L. Konnikova,
M. B. Schwartz,
S. Proksell,
E. Johnston,
V. Miladinova,
W. Chen,
S. R. Brant,
L. Datta,
M. S. Silverberg,
L. P. Schumm,
S. Birch,
M. Giri,
K. Gettler,
Y. Sharma,
C. Stevens,
M. Lazarev,
T. Haritunians
Feb 20, 2021
Abstract: Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145...