http://purl.uniprot.org/citations/23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/23392276 | http://www.w3.org/2000/01/rdf-schema#comment | "HLA-DRB1 codes for a major histocompatibility complex class II cell surface receptor. Genetic variants in and around this gene have been linked to numerous autoimmune diseases. Most notably, an association between HLA-DRB1*1501 haplotype and multiple sclerosis (MS) has been defined. Utilizing electronic health records and 4235 individuals within Marshfield Clinic's Personalized Medicine Research Project, a reverse genetic screen coined phenome-wide association study (PheWAS) tested association of rs3135388 genotype (tagging HLA-DRB1*1501) with 4841 phenotypes. As expected, HLA-DRB1*1501 was associated with MS (International Classification of Disease version 9-CM (ICD9) 340, P=0.023), whereas the strongest association was with alcohol-induced cirrhosis of the liver (ICD9 571.2, P=0.00011). HLA-DRB1*1501 also demonstrated association with erythematous conditions (ICD9 695, P=0.0054) and benign neoplasms of the respiratory and intrathoracic organs (ICD9 212, P=0.042), replicating previous findings. This study not only builds on the feasibility/utility of the PheWAS approach, represents the first external validation of a PheWAS, but may also demonstrate the complex etiologies associated with the HLA-DRB1*1501 loci."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.org/dc/terms/identifier | "doi:10.1038/gene.2013.2"xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/author | "Zhou Z."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/author | "Ye Z."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/author | "Page D."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/author | "Brilliant M.H."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/author | "Schrodi S.J."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/author | "Hebbring S.J."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/name | "Genes Immun"xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/pages | "187-191"xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/title | "A PheWAS approach in studying HLA-DRB1*1501."xsd:string |
http://purl.uniprot.org/citations/23392276 | http://purl.uniprot.org/core/volume | "14"xsd:string |
http://purl.uniprot.org/citations/23392276 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23392276 |
http://purl.uniprot.org/citations/23392276 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23392276 |
http://purl.uniprot.org/uniprot/#_A0A0A7C3H3-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A0A7C3I1-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A0A7C3I5-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A0A0WDZ3-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A0E3DD60-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A0E3DD66-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A141AZI1-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A141AZI3-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |
http://purl.uniprot.org/uniprot/#_A0A141AZI4-mappedCitation-23392276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23392276 |