{"doi":"10.1371/journal.pgen.0030058","title":"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.","journal":"PLoS Genetics","year":2007,"id":10528,"datarank":0.9497252774840538,"base_score":6.331501849893691,"endowment":6.331501849893691,"self_citation_contribution":0.9497252774840538,"citation_network_contribution":0.0,"self_endowment_contribution":0.9497252774840538,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":561,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0582,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2007-04-20","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":87277,"name":"Edouard Louis","orcid":null,"position":1,"is_corresponding":false},{"id":87278,"name":"Sarah Hansoul","orcid":null,"position":2,"is_corresponding":false},{"id":87279,"name":"Cynthia Sandor","orcid":null,"position":3,"is_corresponding":false},{"id":87280,"name":"Frédéric Farnir","orcid":null,"position":4,"is_corresponding":false},{"id":87281,"name":"Denis Franchimont","orcid":null,"position":5,"is_corresponding":false},{"id":87282,"name":"Séverine Vermeire","orcid":null,"position":6,"is_corresponding":false},{"id":87283,"name":"Olivier Dewit","orcid":null,"position":7,"is_corresponding":false},{"id":87284,"name":"Martine de Vos","orcid":null,"position":8,"is_corresponding":false},{"id":87285,"name":"Anna Dixon","orcid":null,"position":9,"is_corresponding":false},{"id":87286,"name":"Bruno Demarche","orcid":null,"position":10,"is_corresponding":false},{"id":65583,"name":"Ivo Gut","orcid":"0000-0001-7219-632X","position":11,"is_corresponding":false},{"id":14366,"name":"Simon Heath","orcid":"0000-0002-9550-0897","position":12,"is_corresponding":false},{"id":87287,"name":"Mario Foglio","orcid":null,"position":13,"is_corresponding":false},{"id":35194,"name":"Liming Liang","orcid":"0000-0001-8261-3174","position":14,"is_corresponding":false},{"id":87288,"name":"Debby Laukens","orcid":null,"position":15,"is_corresponding":false},{"id":87289,"name":"Myriam Mni","orcid":null,"position":16,"is_corresponding":false},{"id":87290,"name":"Diana Zelenika","orcid":null,"position":17,"is_corresponding":false},{"id":87291,"name":"André Van Gossum","orcid":null,"position":18,"is_corresponding":false},{"id":87292,"name":"Paul Rutgeerts","orcid":null,"position":19,"is_corresponding":false},{"id":87293,"name":"Jacques Belaiche","orcid":null,"position":20,"is_corresponding":false},{"id":13704,"name":"Mark Lathrop","orcid":null,"position":21,"is_corresponding":false},{"id":87294,"name":"Michel Georges","orcid":null,"position":22,"is_corresponding":false},{"id":56230,"name":"Cécile Libioulle","orcid":"0000-0002-3550-2954","position":0,"is_corresponding":true}],"reference_count":19,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}