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Molecular Role of DNA Variants Associated with Crohn's Disease

ABSTRACT:

Crohn's disease (CD), one of the two major inflammatory bowel diseases (IBD), results from an inappropriately directed inflammatory response to the enteric microbiota in a genetically susceptible host. Genome wide association studies (GWAS) have linked >200 specific single nucleotide polymorphisms (SNPs) to CD disease pathogenesis. Within these regions, there are over 5600 additional SNPs that are in linkage disequilibrium (LD) with the tag SNPs, and it is not known which of these contribute to CD. Most of these SNPs map to non-coding regions of the genome, suggesting that causal variants contribute to CD by modifying gene regulatory element activity. In ths study, we have generated genotype, open chromatin (FAIRE-seq), and transcriptome (RNA-seq) data from macroscopically uninflamed regions of colon tissue for 21 CD patients and 11 non-IBD controls. All patients are adults (>18 years old).

PROVIDER: phs001418 | dbGaP |

SECONDARY ACCESSION(S): PRJNA396641PRJNA396640

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs001418.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001418.Crohns_OpenChromatin.v1.p1.MULTI.pdf	Pdf
	manifest_phs001418.Crohns_OpenChromatin.v1.p1.c1.GRU.pdf	Pdf
	datadict_v2.xsl	Other

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