{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Anderson CA"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","NCRR NIH HHS","NIAID NIH HHS","NHLBI NIH HHS","Medical Research Council","Chief Scientist Office","Wellcome Trust","Crohn's and Colitis UK"],"pagination":["246-52"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3084597"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["43(3)"],"pubmed_abstract":["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."],"journal":["Nature genetics"],"pubmed_title":["Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47."],"pmcid":["PMC3084597"],"funding_grant_id":["U01 DK062431","DK076984","G0800759","DK062413","R01 AI062773","G0800675","U01 DK062432","WT091745/Z/10/Z","U01 DK062429","P01-DK046763","DK 063491","N01HC75150","U01 DK062420","083948/Z/07/Z","CZB/4/540","WT089120/Z/09/Z","DK064869","UL1 TR000005","U01 DK062423","U01 DK062422","R01 DK064869-08","G0600329","DK069513","R01 DK064869-07","M01 RR000425","N01HC85079","P30 DK063491","U01 DK062432-10","R01 DK083756","G1002033","AI062773","M11-1","DK83756","U01 HL080295","U01 DK062413","R01 DK064869-05S1","DK062431","DK062432","U01 DK062432-09","U01 DK062432-07","N01 HC035129","U01 DK062432-08","R21 DK084554","P30 DK040561","P01 DK046763","M01-RR00425","P30 DK043351","R01 HL087652","R01 DK060049","R01 DK064869","R01 DK064869-06A1","N01 HC015103","DK043351","DK062429","DK062423","N01HC55222","DK062420","DK062422","P30 DK040561-15","DK084554","K23 DK069513","R03 DK076984"],"pubmed_authors":["Gazouli M","Guthery SL","Milla M","Walters T","Torkvist L","Sans M","Kugathasan S","Satsangi J","Mathew CG","Schreiber S","Anderson CA","Zhao ZZ","De Vos M","Sventoraityte J","McGovern DP","Duerr RH","Goyette P","Levine A","Glas J","Fehrmann RS","Amininejad L","Karlsen TH","Weersma RK","Russell R","Floyd JA","Ponsioen CY","Vatn M","Newman W","Halfvarson J","Franke L","Daly MJ","D'Amato M","Franke A","Palmieri O","Wilson DC","Baldassano RN","Libioulle C","Edwards C","Parkes M","Latiano A","Lawrance I","Kupcinskas L","Lees CW","Vermeire S","Annese V","Taylor KD","Franchimont D","Lemann M","Chamaillard M","Louis E","Hayward NK","Hugot JP","Xavier RJ","Bayless TM","Targan SR","Mowat C","Florin T","Boucher G","Papi L","Wijmenga C","Simms LA","Prescott NJ","Rioux JD","Lee JC","van den Berg LH","Rotter JI","Roberts R","Proctor DD","Ahmad T","Georges M","Anagnou NP","Andersen V","Barclay M","Denson LA","Mansfield JC","Seibold F","Morley KI","Ng A","Gearry R","Jobin G","Silverberg MS","Ophoff RA","Barrett JC","Steinhart AH","Hakonarson H","Brand S","Radford-Smith G","Laukens D","Sanderson J","Sharma Y","Imielinski M","Dubinsky M","Haritunians T","Colombel JF","Westra HJ","Peyrin-Biroulet L","Verspaget H","Cho JH","Scott R","Phillips A","Griffiths AM","Panes J","Montgomery GW","Lagace C","Baidoo L","Ellinghaus D","Schumm P","Bumpstead S","Rutgeerts P","Brant SR","Seielstad M","Glazer NL","Buning C"],"additional_accession":[]},"is_claimable":false,"name":"Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.","description":"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.","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Mar","modification":"2021-02-19T23:27:53Z","creation":"2019-03-27T00:41:04Z"},"accession":"S-EPMC3084597","cross_references":{"pubmed":["21297633"],"doi":["10.1038/ng.764"]}}