The Venn and UpSet Diagram show the shared SNPs between different major IBD SNP studies,321 unique IBD SNPs were identified after comparison.
Ref:Liu Z, Liu R, Gao H, Jung S, Gao X, Sun R, Liu X, Kim Y, Lee HS, Kawai Y, Nagasaki M, Umeno J, Tokunaga K, Kinouchi Y, Masamune A, Shi W, Shen C, Guo Z, Yuan K; FinnGen; International Inflammatory Bowel Disease Genetics Consortium; Chinese Inflammatory Bowel Disease Genetics Consortium; Zhu S, Li D, Liu J, Ge T, Cho J, Daly MJ, McGovern DPB, Ye BD, Song K, Kakuta Y, Li M, Huang H. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. Nat Genet. 2023 May;55(5):796-806. doi: 10.1038/s41588-023-01384-0. Epub 2023 May 8.
Ref:de Lange KM, Moutsianas L, Lee JC, et al. Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Nat Genet. 2017 Feb;49(2):256-261. doi: 10.1038/ng.3760 Epub 2017 Jan 9. PMID: 28067908 PMCID: PMC5289481
The position given is the middle of thelocus window * = additional genome-wide significantassociated SNP in the region ** = two or more additional genome-widesignificant SNPs in the region ‡ = These regions have overlapping butdistinct UC and CD signals Bolded rs numbers indicate SNPs withp-values less than 10-13 † = heterogeneity of odds ratios § = CD risk allele is significantlyprotective in UC Listed are genes implicated by one or morecandidate genes approaches. Bolded genes have been implicated by two or morecandidate gene approaches. For each locus, the top two candidate genes arelisted. A complete listing of gene prioritization is provided in SupplementaryTable 2 ‖gene for which functional studies of associated alleles have been reported Newly discovered loci Ref: Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582. PMID: 23128233.
b.Phenotype with the largest MANTRA Bayes factor Ref: Liu JZ, van Sommeren S, Huang H,et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet. 2015 Sep;47(9):979-986. doi: 10.1038/ng.3359.Epub 2015 Jul 20. PMID: 26192919. Genome-wide association and Immunochip studies on inflammatory bowel disease susceptibility genes in Asia .
CD = Crohn’s disease, UC = ulcerative colitis, GWAS = genome-wide association study, MHC = major histocompatibility complex, () = denotes nearby genes. Ref: Park SC, Jeen YT. Genetic Studies of Inflammatory Bowel Disease Focusing on Asian Patients. Cells. 2019 May 1; 8(5):404. doi: 10.3390/cells8050404 |