{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang W"],"funding":["NIDDK NIH HHS","NCRR NIH HHS","Crohn's & Colitis Foundation","NIGMS NIH HHS"],"pagination":["310-6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3785105"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(5)"],"pubmed_abstract":["The Ashkenazi Jewish population has a several-fold higher prevalence of Crohn's disease (CD) compared with non-Jewish European ancestry populations and has a unique genetic history. Haplotype association is critical to CD etiology in this population, most notably at NOD2, in which three causal, uncommon and conditionally independent NOD2 variants reside on a shared background haplotype. We present an analysis of extended haplotypes that showed significantly greater association to CD in the Ashkenazi Jewish population compared with a non-Jewish population (145 haplotypes and no haplotypes with P-value <10(-3), respectively). Two haplotype regions, one each on chromosomes 16 and 21, conferred increased disease risk within established CD loci. We performed exome sequencing of 55 Ashkenazi Jew"],"journal":["Genes and immunity"],"pubmed_title":["Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3."],"pmcid":["PMC3785105"],"funding_grant_id":["U01 DK062431","R01 DK77905","KL2 RR024138","R01 DK061707","RC1 DK086800","T32 GM007205","F30 DK098927","U01 DK062423","U01 DK062422","2229","P01 DK072201","R01 DK077905","R01 DK092235","U01 DK062429","KL2RR024138"],"pubmed_authors":["Abraham C","Mayer L","Desnick RJ","Cardinale CJ","Waterman M","Warner N","Nunez G","Peter I","Burberry A","Choi M","Hui KY","Cho JH","Ferguson J","Chowers Y","Zhao H","Gregersen PK","Silverberg MS","Katz S","Pe'er I","Zhang W","Gusev A","Hakonarson H","Brant SR","Ng SM","Karban A","Lifton RP"],"additional_accession":[]},"is_claimable":false,"name":"Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.","description":"The Ashkenazi Jewish population has a several-fold higher prevalence of Crohn's disease (CD) compared with non-Jewish European ancestry populations and has a unique genetic history. Haplotype association is critical to CD etiology in this population, most notably at NOD2, in which three causal, uncommon and conditionally independent NOD2 variants reside on a shared background haplotype. We present an analysis of extended haplotypes that showed significantly greater association to CD in the Ashkenazi Jewish population compared with a non-Jewish population (145 haplotypes and no haplotypes with P-value <10(-3), respectively). Two haplotype regions, one each on chromosomes 16 and 21, conferred increased disease risk within established CD loci. We performed exome sequencing of 55 Ashkenazi Jew","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Jul-Aug","modification":"2026-04-08T01:19:21.83Z","creation":"2019-03-27T01:16:37Z"},"accession":"S-EPMC3785105","cross_references":{"pubmed":["23615072"],"doi":["10.1038/gene.2013.19"]}}