Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

By Andre Franke, Tobias Balschun, T. Karlsen, Jurgita Šventoraitytė, S. Nikolaus, G. Mayr, Francisco S. Domingues, Mario Albrecht, M. Nothnagel, David Ellinghaus and 15 more. Nature Genetics, 2008

635 citations recorded by the source corpus.

Subfields: Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/5a56abf2e5bfcbb0dabca8becc446650025a5c98

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In Genetics

1. Dan R. Littman
2. D. Munn
3. S. Offermanns
4. T. Kanai
5. K. Matsuoka

In Immunology

1. K. Honda
2. Dan R. Littman
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Citations in the corpus

• New developments in goblet cell mucus secretion and function (2015, positive): “Genome-wide association studies (GWAS) in IBD patients have associated single nucleotide polymorphisms (SNPs) in the IL10 loci with IBD (73;74) and mutations in the IL10 receptors are also linked to IBD (75).”
• Activation of the receptor (Gpr109a) for niacin and the commensal metabolite butyrate suppresses colonic inflammation and carcinogenesis (2014, positive): “…cell surface receptors have been identified for butyrate; these receptors, GPR43 and GPR109A (also known as hydroxycarboxylic acid receptor 2 or HCA2), are G protein coupled and are expressed in colonic epithelium, adipose tissue, and immune cells (Blad et al., 2012; Ganapathy et al., 2013).”
• New IBD genetics: common pathways with other diseases (2011, background): “The main common genetic factors are between ulcerative colitis and SLE: germline variants in both IL10, FCGR2A and IRF5 are associated with both diseases.(31) 72 84e86 Of note, the ulcerative colitisassociated nsSNP in FCGR2A is actually protective in SLE.”
• Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). (2009, result): “This is in contrast to single nucleotide polymorphisms (SNPs) in ECM1 (an intestinal glycoprotein that activates NF-κB) and IL-10 associated just with UC (165, 167), and to SNPs in IL-23R and IL-12B (encoding the p40 subunit of IL-12 and IL-23) that are associated with IBD in general (163–167).”
• The Microbiome in Infectious Disease and Inflammation (2012, positive): “Indeed, many reports have shown that the microbial populations in the intestine of IBD patients are different from those of healthy individuals (12–14).”
• A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus (2009, background): “The variant associated with SLE is identical to a SNP recently identified as contributing to risk of ulcerative coliti”
• Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease (2012, neutral): “Additional funds were provided by funding to JHC (DK062429-S1 and Crohn’s & Colitis Foundation of America, Senior Investigator Award (5-2229)), and RHD (CA141743).”