Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
By C. Anderson, G. Boucher, Charlie W. Lees, Andre Franke, Mauro D'Amato, K. Taylor, James C. Lee, P. Goyette, Marcin Imielinski, A. Latiano and 102 more. Nature Genetics, 2011
1,319 citations recorded by the source corpus.
Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 × 10−8), increasing the number of ulcerative colitis–associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis.
Subfields: Epidemiology, Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/ef174f7628750f2bd7332a9b09ed72cee06afb0d
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Citations in the corpus
- Human Intestinal Barrier Function in Health and Disease (2016, background): “LAMB1, which encodes laminin, HNF4α (hepatocyte nuclear factor 4 alpha), an epithelial-specific transcriptional regulator, GNA12, a guanine nucleotide-binding protein and ECM-1, which encodes an extracellular matrix protein.(55) Interestingly, HNF4α-null mice develop a spontaneous colitis.”
- The Impact of the Gut Microbiota on Human Health: An Integrative View (2012, neutral): “The development of Crohn's can only partly be described by genetics, with many of the more than 99 polymorphisms associated with the disease linked to the immune system and the recognition of microbes (Anderson et al., 2011).”
- The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) (2016, background): “GWAS have identified reproducible genomic loci associated with many common human diseases, including cardiovascular disease (2), inflammatory bowel disease (3), type 2 diabetes (4) and breast cancer (5).”