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Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4

Authors: Libioulle, Cécile; Louis, Edouard; Hansoul, Sarah; Sandor, Cynthia; Farnir, Frédéric; Franchimont, Denis; Vermeire, Severine; +16 Authors

Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4

Abstract

To identify novel susceptibility loci for Crohn disease (CD), we undertook a genome-wide association study with more than 300,000 SNPs characterized in 547 patients and 928 controls. We found three chromosome regions that provided evidence of disease association with p-values between 10(-6) and 10(-9). Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16) correspond to genes previously reported to be associated with CD. In addition, a 250-kb region of Chromosome 5p13.1 was found to contain multiple markers with strongly suggestive evidence of disease association (including four markers with p < 10(-7)). We replicated the results for 5p13.1 by studying 1,266 additional CD patients, 559 additional controls, and 428 trios. Significant evidence of association (p < 4 x 10(-4)) was found in case/control comparisons with the replication data, while associated alleles were over-transmitted to affected offspring (p < 0.05), thus confirming that the 5p13.1 locus contributes to CD susceptibility. The CD-associated 250-kb region was saturated with 111 SNP markers. Haplotype analysis supports a complex locus architecture with multiple variants contributing to disease susceptibility. The novel 5p13.1 CD locus is contained within a 1.25-Mb gene desert. We present evidence that disease-associated alleles correlate with quantitative expression levels of the prostaglandin receptor EP4, PTGER4, the gene that resides closest to the associated region. Our results identify a major new susceptibility locus for CD, and suggest that genetic variants associated with disease risk at this locus could modulate cis-acting regulatory elements of PTGER4.

Keywords

Receptors, Prostaglandin E -- genetics, Receptors, Prostaglandin E/genetics, Molecular Sequence Data, Sequence Homology, QH426-470, Sciences de la santé humaine, Polymorphism, Single Nucleotide, Chromosomes, Linkage Disequilibrium, Cohort Studies, Veterinary medicine & animal health, Crohn Disease, Gene Frequency, Sequence Homology, Nucleic Acid, Receptors, Genetics, Humans, Receptors, Prostaglandin E, Genetic Predisposition to Disease, Polymorphism, Human health sciences, Crohn Disease -- genetics, Crohn Disease/genetics, Nucleic Acid, Base Sequence, Prostaglandin E -- genetics, Chromosome Mapping, Single Nucleotide, Gastroentérologie & hépatologie, Sciences bio-médicales et agricoles, Life sciences, Médecine vétérinaire & santé animale, Gene Expression Regulation, Haplotypes, Case-Control Studies, Sciences du vivant, Chromosomes, Human, Pair 5, Pair 5, Gastroenterology & hepatology, Receptors, Prostaglandin E, EP4 Subtype, Human, Research Article

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    citations
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    493
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    impulse
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
493
Top 1%
Top 0.1%
Top 0.1%
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gold