Author:

Keywords:

Adolescent, Adult, Case-Control Studies, Colitis, Ulcerative, Crohn Disease, Exome, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Mutation, Missense, Nuclear Proteins, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Repressor Proteins, Young Adult, Science & Technology, Life Sciences & Biomedicine, Gastroenterology & Hepatology, Inflammatory Bowel Disease, Whole-Exome Sequencing, Complex Disease, GENOME-WIDE ASSOCIATION, TRANSCRIPTIONAL REPRESSOR BLIMP-1, INFLAMMATORY-BOWEL-DISEASE, T-CELL HOMEOSTASIS, SUSCEPTIBILITY LOCI, LYMPHOCYTE MIGRATION, ULCERATIVE-COLITIS, AUTOPHAGY RECEPTOR, L-SELECTIN, EXPRESSION, CD, Crohn’s disease, GWAS, IBD, IFN, NF-κB, PBL, PBMC, SNP, SNV, TLR, Toll-like receptor, UC, WT, eQTL, expression quantitative trait locus, genome-wide association studies, inflammatory bowel disease, interferon, nuclear factor κB, peripheral blood lymphocyte, peripheral blood mononuclear cell, qRT-PCR, quantitative reverse-transcription polymerase chain reaction, single nucleotide polymorphism, single nucleotide variant, ulcerative colitis, wild-type, Positive Regulatory Domain I-Binding Factor 1, 1103 Clinical Sciences, 1109 Neurosciences, 1114 Paediatrics and Reproductive Medicine, 3202 Clinical sciences, 3210 Nutrition and dietetics

Abstract:

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.