ArticleNature genetics2017
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 9 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
95 citing papers in PubMed, 9 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis.Nature communications · 2024Pooled it
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.Nature genetics · 2021Pooled it
- Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.Nature communications · 2021Pooled it
- Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.Nature genetics · 2020Pooled it
- Pooled it
- Pooled it
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nature genetics · 2017Pooled it
- Pooled it
- Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.Nature genetics · 2017Pooled it
- Tissue-Specific Differential Expression of Novel Genes and Long Intergenic Noncoding RNAs in Humans With Extreme Response to Evoked Endotoxemia.Circulation. Genomic and precision medicine · 2018Trial
- A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.Human genetics · 2026Article
- Gut-reproduction axis: genome-wide pleiotropic and prospective evidence linking inflammatory bowel disease with gynecological disorders.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Multivariable genome-wide analysis elucidates the shared genetic architecture, immunosenescence features, and gut-origin therapeutic targets of ulcerative colitis-associated multisystem inflammation.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Dissecting PGENature communications · 2026Article
- A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models.BMC bioinformatics · 2026Article
- Cystic fibrosis risk variants confer protection against inflammatory bowel disease.Cell genomics · 2026Article
- Review
- Explainable deep learning for stratified medicine in inflammatory bowel disease.Genome biology · 2025Article
- The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation.Journal of Crohn's & colitis · 2025Article
- Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 16 institutions in 2 countries.
Funding
Abstract
To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences into new and existing genome-wide association study cohorts and tested for association at ∼12 million variants in a total of 16,432 cases and 18,843 controls. We discovered a 0.6% frequency missense variant in ADCY7 that doubles the risk of ulcerative colitis. Despite good statistical power, we did not identify any other new low-frequency risk variants and found that such variants explained little heritability. We detected a burden of very rare, damaging missense variants in known Crohn's disease risk genes, suggesting that more comprehensive sequencing studies will continue to improve understanding of the biology of complex diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.