| Title: | Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7 |
| Journal: | Nature Genetics |
| Published: | 9 Jan 2017 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/28067910/ |
| DOI: | https://doi.org/10.1038/ng.3761 |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289625 |
| Citations: | 153 (21 in last 2 years) as of 8 Aug 2024 |
Publication 7541
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Abstract
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.</p>
10 Keywords
- Adenylyl Cyclases
- Colitis, Ulcerative
- Crohn Disease
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Genotype
- Humans
- Inflammatory Bowel Diseases
- Phenotype
- Polymorphism, Single Nucleotide
30 Authors
- 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
Enabling scientific discoveries that improve human health