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

Authors :
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
Publication Year :
2021
Publisher :
Cold Spring Harbor Laboratory, 2021.

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.

Details

Database :
OpenAIRE
Accession number :
edsair.doi...........1cb230603fc89c4e9c9583e329f9ebeb
Full Text :
https://doi.org/10.1101/2021.06.15.21258641