| http://purl.uniprot.org/citations/36732664 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36732664 | http://www.w3.org/2000/01/rdf-schema#comment | "We have mapped a locus on chromosome 7p22.3-7p15.3 spanning a 22.4 Mb region for ulcerative colitis (UC) by whole genome linkage analyses of a large Danish family. The family represent three generations with UC segregating as an autosomal dominant trait with variable expressivity. The whole-genome scan resulted in a logarithm of odds score (LOD score) of Z = 3.31, and a whole genome sequencing (WGS) of two affected excluded disease-causing mutations in the protein coding genes. Two rare heterozygote variants, rs182281985:G>A and rs541426369:G>A, both with low allele frequencies (MAF A:0.0001, gnomAD ver3.1.2), were found in clusters of ChiP-seq transcription factors binding sites close to the AHR (aryl hydrocarbon receptor) gene and the UC associated SNP rs1077773:G>A. Testing the two SNPs in a promoter reporter assay for regulatory activity revealed that rs182281985:G>A influenced the AHR promoter. These results suggest a regulatory region that include rs182281985:G>A close to the UC GWAS SNP rs1077773:G>A and further demonstrate evidence that the AHR gene on the 7p-tel region is a candidate susceptible gene for UC."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41431-023-01298-9"xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/author | "Hansen L."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/author | "Eiberg H."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/author | "Troelsen J.T."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/author | "Bak M."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/author | "Bang-Berthelsen C.H."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/author | "Olsson J.B."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/pages | "1440-1446"xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/title | "A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene."xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://purl.uniprot.org/core/volume | "31"xsd:string |
| http://purl.uniprot.org/citations/36732664 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/36732664 |
| http://purl.uniprot.org/citations/36732664 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/36732664 |
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| http://purl.uniprot.org/uniprot/#_P35869-mappedCitation-36732664 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36732664 |
| http://purl.uniprot.org/uniprot/L0R578 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/36732664 |
| http://purl.uniprot.org/uniprot/P35869 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/36732664 |