{"doi":"10.1073/pnas.0706645104","title":"Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci","abstract":"<jats:p>\n                    Genome-wide association (GWA) studies offer a powerful unbiased method for the identification of multiple susceptibility genes for complex diseases. Here we report the results of a GWA study for Crohn's disease (CD) using family trios from the Quebec Founder Population (QFP). Haplotype-based association analyses identified multiple regions associated with the disease that met the criteria for genome-wide significance, with many containing a gene whose function appears relevant to CD. A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci\n                    <jats:italic>NOD2</jats:italic>\n                    and\n                    <jats:italic>IBD5</jats:italic>\n                    . The recently described\n                    <jats:italic>IL23R</jats:italic>\n                    locus was also identified and replicated. For this region, multiple individuals with all major haplotypes in the QFP were sequenced and extensive fine mapping performed to identify risk and protective alleles. Several additional loci, including a region on 3p21 containing several plausible candidate genes, a region near\n                    <jats:italic>JAKMIP1</jats:italic>\n                    on 4p16.1, and two larger regions on chromosome 17 were replicated. Together with previously published loci, the spectrum of CD genes identified to date involves biochemical networks that affect epithelial defense mechanisms, innate and adaptive immune response, and the repair or remodeling of tissue.\n                  </jats:p>","journal":"Proceedings of the National Academy of Sciences","year":2007,"id":592281,"datarank":9.481166582234579,"base_score":5.3981627015177525,"endowment":5.3981627015177525,"self_citation_contribution":0.809724405227663,"citation_network_contribution":8.671442177006917,"self_endowment_contribution":0.809724405227663,"citer_contribution":8.671442177006917,"corpus_percentile":null,"corpus_rank":null,"citation_count":220,"citer_count":197,"citers_with_citation_signal":165,"citers_with_endowment":165,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1515575,"name":"Randall D. 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A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci\n                    <jats:italic>NOD2</jats:italic>\n                    and\n                    <jats:italic>IBD5</jats:italic>\n                    . The recently described\n                    <jats:italic>IL23R</jats:italic>\n                    locus was also identified and replicated. For this region, multiple individuals with all major haplotypes in the QFP were sequenced and extensive fine mapping performed to identify risk and protective alleles. Several additional loci, including a region on 3p21 containing several plausible candidate genes, a region near\n                    <jats:italic>JAKMIP1</jats:italic>\n                    on 4p16.1, and two larger regions on chromosome 17 were replicated. Together with previously published loci, the spectrum of CD genes identified to date involves biochemical networks that affect epithelial defense mechanisms, innate and adaptive immune response, and the repair or remodeling of tissue.\n                  </jats:p>","is_dataset_classified":null,"base_score":5.3981627015177525,"endowment":5.3981627015177525,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"17804789","pmcid":"PMC1965486","openalex_id":"https://openalex.org/W2149585871","authors":[],"funders":[],"total_grants":0,"fwci":19.6897,"citation_percentile":0.99620755,"influential_citations":0,"citation_trend":[{"year":2012,"count":15},{"year":2013,"count":14},{"year":2014,"count":16},{"year":2015,"count":7},{"year":2016,"count":9},{"year":2017,"count":4},{"year":2018,"count":2},{"year":2019,"count":4},{"year":2020,"count":1},{"year":2021,"count":8},{"year":2023,"count":1},{"year":2024,"count":2},{"year":2025,"count":2},{"year":2026,"count":1}],"oa_status":"green","license":null,"oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1965486","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1965486","host_type":"repository"},{"url":"https://pnas.org/doi/pdf/10.1073/pnas.0706645104","host_type":"publisher"},{"url":"https://doi.org/10.1073/pnas.0706645104","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/17804789","host_type":"repository"}],"fields_of_study":["Inflammatory Bowel Disease","IL-33, ST2, and ILC Pathways","Eosinophilic Esophagitis"],"mesh_terms":["Alleles","Chromosomes, Human, Pair 17","Chromosomes, Human, Pair 3","Chromosomes, Human, Pair 4","Crohn Disease","France","Genetic Markers","Genetics, Population","Haplotypes","Humans","Quebec","Risk Factors","Reproducibility of Results","Genome, Human","Receptors, Interleukin","Founder Effect","Genetic Predisposition to Disease","Physical Chromosome Mapping","Nod2 Signaling Adaptor Protein"],"keywords":["Biology","Genetics","Haplotype","Locus (genetics)","Genome-wide association study","Genome","Allele","Founder effect","Gene","Population","Disease","Candidate gene","Genetic association","Single-nucleotide polymorphism","Genotype","Medicine"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"refsnp"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-26T13:02:00.827726Z","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":[]}