| http://purl.uniprot.org/citations/20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20347497 | http://www.w3.org/2000/01/rdf-schema#comment | "Background & aimsThe HLA complex on chromosome 6p21 is firmly established as a risk locus for primary sclerosing cholangitis (PSC). We aimed to exploit genetic differences between Northern Europe and Italy in an attempt to define a causative locus in this genetic region.MethodsSeventy-eight North-Italian PSC patients and 79 controls were included. We performed sequencing-based genotyping of HLA-C, HLA-B, and HLA-DRB1. The major histocompatibility chain-related A (MICA) transmembrane microsatellite was analysed using PCR fragment length determination. The tumour necrosis factor-alpha (TNF-alpha)-308G-->A polymorphism was genotyped with TaqMan. Allele frequencies were compared with Chi-square tests. Uncorrected p-values <0.05 were considered statistically significant when replicating findings in previous studies. The p-values of novel associations were corrected for multiple comparisons (Bonferroni).ResultsThe frequency of the strong inhibitory HLA-C2 killer-immunoglobulin receptor (KIR) ligand variant was significantly reduced in PSC vs. controls (0.39 vs. 0.58, p=0.0006). Consequently, HLA-C1 homozygosity was associated with an increased risk of PSC (OR 3.1; 95% CI 1.4-6.7, p=0.004). Importantly, there were no significant associations with the HLA-Bw4 KIR ligand variant, at the neighbouring MICA locus or with TNF-alpha-308G-->A. At HLA-DRB1, we confirmed positive and negative associations with DRB1*15 and DRB1*07, respectively, while there were no associations with the DRB1*03, *04 or *1301 alleles typically detected in PSC in Northern Europe.ConclusionsThe strong inhibitory of the KIR ligand HLA-C2 protects against PSC development in all populations hitherto studied. Further studies on the role of natural killer cells and T-lymphocytes expressing KIRs in PSC pathogenesis are warranted."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jhep.2009.11.029"xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Lleo A."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Woldseth B."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Invernizzi P."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Karlsen T.H."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Selmi C."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Strazzabosco M."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Fabris L."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/author | "Hov J.R."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/name | "J Hepatol"xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/pages | "712-717"xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/title | "Genetic associations in Italian primary sclerosing cholangitis: heterogeneity across Europe defines a critical role for HLA-C."xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://purl.uniprot.org/core/volume | "52"xsd:string |
| http://purl.uniprot.org/citations/20347497 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20347497 |
| http://purl.uniprot.org/citations/20347497 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C3H3-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C3I1-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C3I5-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C549-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C552-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C553-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |
| http://purl.uniprot.org/uniprot/#_A0A0E3DC98-mappedCitation-20347497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20347497 |