Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4
pmid: 17447842
pmc: PMC1853118
Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4
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.
- Katholieke Universiteit Leuven Belgium
- University of Liege (ULG) Belgium
- Centre National de Génotypage France
- Université de Liège (University of Liège) Belgium
- Erasmus Hospital Belgium
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
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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