Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility
Authors
Aleksejs Sazonovs, Christine Stevens, Guhan Venkataraman, Kai Yuan, Brandon Avila, Maria Abreu, Tariq Ahmad, Matthieu Allez, Ashwin Ananthakrishnan, Gil Atzmon, Aris Baras, Jeffrey Barrett, Nir Barzilai, Laurent Beaugerie, Ashley Beecham, Charles Bernstein, Alain Bitton, Bernd Bokemeyer, Andrew Chan, Daniel Chung, Isabelle Cleynen, Jacques Cosnes, David Cutler, Allan Daly, Oriana Damas, Lisa Datta, Noor Dawany, Marcella Devoto, Sheila Dodge, Eva Ellinghaus, Laura Fachal, Martti Farkkila, William Faubion, Manuel Ferreira, Denis Franchimont, Stacey Gabriel, Michel Georges, Kyle Gettler, Mamta Giri, Benjamin Glaser, Siegfried Goerg, Philippe Goyette, Daniel Graham, Eija Hämäläinen, Talin Haritunians, Graham Heap, Mikko Hiltunen, Marc Hoeppner, Julie Horowitz, Peter Irving, Vivek Iyer, Chaim Jalas, Judith Kelsen, Hamed Khalili, Barbara Kirschner, Kimmo Kontula, Jukka Koskela, Subra Kugathasan, Juozas Kupcinskas, Christopher Lamb, Matthias Laudes, Adam Levine, James Lewis, Claire Liefferinckx, Britt-Sabina Loescher, Edouard Louis, John Mansfield, Sandra May, Jacob McCauley, Emebet Mengesha, Myriam Mni, Paul Moayyedi, Christopher Moran, Rodney Newberry, Sirimon O’Charoen, David Okou, Bas Oldenburg, Harry Ostrer, Aarno Palotie, Joel Pekow, Inga Peter, Marieke Pierik, Cyriel Ponsioen, Nikolas Pontikos, Natalie Prescott, Ann Pulver, Souad Rahmouni, Daniel Rice, Päivi Saavalainen, Bruce Sands, Balfour Sartor, Elena Schiff, Stefan Schreiber, Philip Schuum, Anthony Segal, Philippe Seksik, Rasha Shawky, Shehzad Sheikh, Mark Silverberg, Alison Simmons, Jurgita Skeiceviciene, Harry Sokol, Matthew Solomonson, Hari Somineni, Dylan Sun, Stephan Targan, Dan Turner, Holm Uhlig, Andrea van der Meulen, Severine Vermeire, Sare Verstockt, Michiel Voskuil, Harland Winter, Justine Young, Richard Duerr, Andre Franke, Steven Brant, Judy Cho, Rinse Weersma, Miles Parkes, Ramnik Xavier, Manuel Rivas, John Rioux, Dermot McGovern, Hailiang Huang, Carl Anderson, Mark Daly
Year of publication
2021Journal
UKNVolume
-Issue
-Abstract
Genome-wide association studies (GWAS) have identified hundreds of loci associated with Crohns disease (CD), however, as with all complex diseases, deriving pathogenic mechanisms from these non-coding GWAS discoveries has been challenging. To complement GWAS and better define actionable biological targets, we analysed sequenced data from more than 30,000 CD patients and 80,000 population controls. We observe rare coding variants in established CD susceptibility genes as well as ten genes where coding variation directly implicates the gene in disease risk for the first time.