Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
Disease areas:
gut health
Last updated:
Author(s):
Yang Luo, Katrina M de Lange, Luke Jostins, Loukas Moutsianas, Joshua Randall, Nicholas A Kennedy, Christopher A Lamb, Shane McCarthy, Tariq Ahmad, Cathryn Edwards, Eva Goncalves Serra, Ailsa Hart, Chris Hawkey, John C Mansfield, Craig Mowat, William G Newman, Sam Nichols, Martin Pollard, Jack Satsangi, Alison Simmons, Mark Tremelling, Holm Uhlig, David C Wilson, James C Lee, Natalie J Prescott, Charlie W Lees, Christopher G Mathew, Miles Parkes, Jeffrey C Barrett, Carl A Anderson
Carl Anderson, Jeffrey Barrett and colleagues use whole-genome sequencing and imputation to explore the genetic architecture of inflammatory bowel disease. They identify a low-frequency missense variant in ADCY7 that doubles risk of ulcerative colitis and detect a burden of very rare, damaging missense variants in known Crohn’s disease risk genes.
Irritable bowel syndrome (IBS) is a common disorder, affecting about 10% (2.5-37%) of the population. Despite its high prevalence, it is biologically poorly understood. Usually,…
