Rxivist logo

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

By Aleksejs Sazonovs, Christine R Stevens, Guhan Ram Venkataraman, Kai Yuan, Brandon Avila, Maria T Abreu, Tariq Ahmad, Matthieu Allez, Gil Atzmon, Aris Baras, Jeffrey C Barrett, Nir Barzilai, Laurent Beaugerie, Ashley Beecham, Charles N Bernstein, Alain Bitton, Bernd Bokemeyer, Andrew Chan, Daniel Chung, Isabelle Cleynen, Jacques Cosnes, David J. Cutler, Allan Daly, Oriana M Damas, Lisa W Datta, Noor Dawany, Marcella Devoto, Angela Dobes, Sheila Dodge, Eva Ellinghaus, Laura Fachal, Martti Farkkila, William Faubion, Manuel Ferreira, Denis Franchimont, Stacey B Gabriel, Michel Georges, Kyle Gettler, Mamta Giri, Benjamin Glaser, Siegfried Goerg, Philippe Goyette, Daniel Graham, Eija Hamalainen, Talin Haritunians, Graham A. Heap, Mikko Hiltunen, Andre Franke, Julie E. Horowitz, Peter Irving, Vivek Iyer, Chaim Jalas, Judith Kelsen, Hamed Khalili, Barbara S Kirschner, Kimmo Kontula, Jukka T Koskela, Subra Kugathasan, Juozas Kupcinskas, Christopher A Lamb, Matthias Laudes, Debby Laukens, Adam P. Levine, James Lewis, Claire Liefferinckx, Britt-Sabina Loescher, Edouard Louis, John Mansfield, Sandra May, Jacob L McCauley, Emebet Mengesha, Myriam Mni, Paul Moayyedi, Christopher J Moran, Rodney Newberry, Sirimon O'Charoen, David T Okou, Bas Oldenburg, Harry Ostrer, Aarno Palotie, Joel Pekow, Inga Peter, Marieke J Pierik, Cyriel Y Ponsioen, Nikolas Pontikos, Natalie Prescott, Ann E Pulver, Souad Rahmouni, Daniel L Rice, Paivi Saavalainen, Bruce Sands, R Balfour Sartor, Elena R Schiff, Stefan Schreiber, Phil Schuum, Anthony W Segal, Philippe Seksik, Rasha Shawky, Shehzad Z Sheikh, Mark Silverberg, Alison Simmons, Jurgita Skeiceviciene, Harry Sokol, Matthew Solomonson, Hari Somineni, Dylan Sun, Stephan Targan, Dan Turner, Holm H Uhlig, Andrea E van der Meulen, Severine Vermeire, Sare Verstockt, Michiel D Voskuil, Harland S Winter, Justine Young, Belgium IBD Consortium, Cedars-Sinai IBD, Epi25 Collaborative, International IBD Genetics Consortium, INTERVAL cohort, NIDDK IBD Genetics Consortium, NIHR IBD BioResource, Regeneron Genetics Center, SHARE Consortium, SPARC IBD Network, T2D-GENES Consortium, UK IBD Genetics Consortium, Richard H Duerr, Steven Brant, Judy Cho, Rinse K. Weersma, Miles Parkes, Ramnik J. Xavier, Manuel A. Rivas, John David Rioux, Dermot McGovern, Hailiang Huang, Carl A Anderson, Mark Daly

Posted 21 Jun 2021
medRxiv DOI: 10.1101/2021.06.15.21258641

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 sequence data from more than 30,000 CD cases 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.

Download data

  • Downloaded 1,131 times
  • Download rankings, all-time:
    • Site-wide: 21,916
    • In genetic and genomic medicine: 97
  • Year to date:
    • Site-wide: 3,530
  • Since beginning of last month:
    • Site-wide: 3,497

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


PanLingua

News