{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ellinghaus D"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","Medical Research Council","NCI NIH HHS","Wellcome Trust","NIGMS NIH HHS"],"pagination":["339-47"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3753067"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["145(2)"],"pubmed_abstract":["Background & aims
Genome-wide association studies (GWAS) have identified 140 Crohn's disease (CD) susceptibility loci. For most loci, the variants that cause disease are not known and the genes affected by these variants have not been identified. We aimed to identify variants that cause CD through detailed sequencing, genetic association, expression, and functional studies.Methods
We sequenced whole exomes of 42 unrelated subjects with CD and 5 healthy subjects (controls) and then filtered single nucleotide variants by incorporating association results from meta-analyses of CD GWAS and in silico mutation effect prediction algorithms. We then genotyped 9348 subjects with CD, 2868 subjects with ulcerative colitis, and 14,567 control subjects and associated variants analyzed i"],"journal":["Gastroenterology"],"pubmed_title":["Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies."],"pmcid":["PMC3753067"],"funding_grant_id":["G0000934","U01 DK062420","1R01CA141743-01","068545/Z/02","G0802320","R01 CA141743","P50 GM085764","R01 GM069373","UL1 TR000005","GM069373","P30 DK043351","068545"],"pubmed_authors":["Zhang H","Andersen V","Nothen MM","Sans M","Wang J","Mathew CG","Schreiber S","Boehm BO","Kayser M","Duerr RH","Lipinski S","Krawczak M","Nothnagel M","Rosenstiel P","Glas J","Subramani S","Bromberg Y","Karlsen TH","Weersma RK","Keller A","Brand S","Zeissig S","Nikolaus S","McArdle WL","Ponsioen CY","Hasler R","Halfvarson J","Mayr G","Winkelmann J","Daly MJ","Jiang F","D'Amato M","Lee J","Liu Q","Albrecht M","Berzuini CR","Forster M","Franke A","Jiang T","Illig T","Liu X","Goodall J","Parkes M","Latiano A","Rivas MA","Vogel U","Kupcinskas L","Vermeire S","Annese V","Skieceviciene J","Vatn MH","Till A","Strachan DP","Ellinghaus E","Sanderson JD","Ellinghaus D","Rutgeerts P","Wijmenga C","Buning C","Stade B","Doncheva NT"],"additional_accession":[]},"is_claimable":false,"name":"Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.","description":"Background & aims
Genome-wide association studies (GWAS) have identified 140 Crohn's disease (CD) susceptibility loci. For most loci, the variants that cause disease are not known and the genes affected by these variants have not been identified. We aimed to identify variants that cause CD through detailed sequencing, genetic association, expression, and functional studies.Methods
We sequenced whole exomes of 42 unrelated subjects with CD and 5 healthy subjects (controls) and then filtered single nucleotide variants by incorporating association results from meta-analyses of CD GWAS and in silico mutation effect prediction algorithms. We then genotyped 9348 subjects with CD, 2868 subjects with ulcerative colitis, and 14,567 control subjects and associated variants analyzed i","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Aug","modification":"2026-05-30T14:28:15.383Z","creation":"2026-04-08T07:22:26.165Z"},"accession":"S-EPMC3753067","cross_references":{"pubmed":["23624108"],"doi":["10.1053/j.gastro.2013.04.040"]}}