Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

Autor: Schuum P, Daniel B. Graham, Sun D, Seksik P, David T. Okou, Daniel L. Rice, David J. Cutler, Martti Färkkilä, Liefferinckx C, Segal Aw, Andrew T. Chan, Denis Franchimont, Beecham A, Subra Kugathasan, Stacey Gabriel, Stefan Schreiber, Baras A, Kirschner Bs, Goerg S, Juozas Kupcinskas, Jukka Koskela, John C. Mansfield, Kyle Gettler, Devoto M, Dobes A, Debby Laukens, Richard H. Duerr, Myriam Mni, Loescher B, Cosnes J, Mengesha E, William A. Faubion, Joshua Lewis, Graham A. Heap, Voskuil, Christine Stevens, Pekow J, Lisa W. Datta, Adam P. Levine, Khalili H, O’Charoen S, Dan Turner, Nikolas Pontikos, Natalie J. Prescott, Inga Peter, Marc P. Hoeppner, Chung D, Mark S. Silverberg, Dodge S, Talin Haritunians, Moayyedi P, Winter Hs, John D. Rioux, Andre Franke, Holm H. Uhlig, Ferreira M, Matthew Solomonson, Sokol H, Damas Om, Ramnik J. Xavier, Horowitz Je, Iyer, Eija Hämäläinen, Avila B, Dawany N, Newberry R, Bernstein C, Shawky R, Benjamin Glaser, Alison Simmons, Mamta Giri, Bruce E. Sands, Ann E. Pulver, Yuan K, Abreu Mt, Gil Atzmon, Allez M, Young J, Verstockt S, Aarno Palotie, Hongyan Huang, Kimmo Kontula, Ellinghaus E, van der Meulen Ae, Ahmad T, Oldenburg B, Cyriel Y. Ponsioen, Daly A, Dermot P.B. McGovern, Jeffrey C. Barrett, Peter M. Irving, Miles Parkes, Jacob L. McCauley, Päivi Saavalainen, Pierik Mj, Alain Bitton, Guhan Venkataraman, Rinse K. Weersma, Schiff Er, Manuel A. Rivas, Harry Ostrer, Bokemeyer B, Judy H. Cho, Sandra May, Michel Georges, Isabelle Cleynen, Moran Cj, Laudes M, Beaugerie L, Laura Fachal, Nir Barzilai, Mikko Hiltunen, Somineni H, Stephan R. Targan, Skeiceviciene J, Kelsen J, Sartor Br, Christopher A. Lamb, Philippe Goyette, Steven R. Brant, Souad Rahmouni, Mark J. Daly, Sheikh Sz, Edouard Louis, Jalas C, Carl A. Anderson, Severine Vermeire, Aleksejs Sazonovs
Rok vydání: 2021
Předmět:
Popis: 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.
Databáze: OpenAIRE