http://purl.uniprot.org/citations/18835879 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/18835879 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectivesThe heritability of RA has been estimated to be approximately 55%, of which the MHC contributes about one-third. HLA-DRB1 alleles are strongly associated with RA, but it is likely that significant non-DRB1 MHC genetic susceptibility factors are involved. Previously, we identified two three-marker haplotypes in a 106-kb region in the MHC class III region immediately centromeric to TNF, which are strongly associated with RA on HLA-DRB1*0404 haplotypes. In the present study, we aimed to refine these associations further using a combination of genotyping and gene expression studies.MethodsThirty-nine nucleotide polymorphisms (SNPs) were genotyped in 95 DRB1*0404 carrying unrelated RA cases, 125 DRB1*0404-carrying healthy controls and 87 parent-case trio RA families in which the affected child carried HLA-DRB1*04. Quantitative RT-PCR was used to assess the expression of the positional candidate MHC class III genes APOM, BAT2, BAT3, BAT4, BAT5, AIF1, C6orf47, CSNK2beta and LY6G5C, and the housekeeper genes, hypoxanthine-guanine phosphoribosyltransferase (HPRT) and beta(2)-microglobulin (B2M) in 31 RA cases and 21 ethnically, age- and sex-matched healthy controls. Synovial membrane specimens from RA, PsA and OA cases were stained by an indirect immunoperoxidase technique using a mouse-anti-human AIF1 monoclonal antibody.ResultsAssociation was observed between RA and single markers or two marker haplotypes involving AIF1, BAT3 and CSNK. AIF1 was also significantly overexpressed in RA mononuclear cells (1.5-to 1.9-fold difference, P = 0.02 vs HPRT, P = 0.002 vs B2M). AIF1 protein was clearly expressed by synovial macrophages in all the inflammatory synovial samples in contrast to the non-inflammatory OA samples.ConclusionsThe results of the genotyping and expression studies presented here suggest a role for AIF1 in both the aetiology and pathogenesis of RA."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.org/dc/terms/identifier | "doi:10.1093/rheumatology/ken376"xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Brown M.A."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Pointon J.J."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Wordsworth B.P."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Vilarino-Guell C."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Cardon L.R."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Adamopoulos I.E."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Darke C."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Athanasou N."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Meisel C."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Sims A.M."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Harney S.M."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Newton J.L."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/author | "Lawrence R.W."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/name | "Rheumatology (Oxford)"xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/pages | "1761-1767"xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/title | "Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis."xsd:string |
http://purl.uniprot.org/citations/18835879 | http://purl.uniprot.org/core/volume | "47"xsd:string |
http://purl.uniprot.org/citations/18835879 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18835879 |
http://purl.uniprot.org/citations/18835879 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18835879 |
http://purl.uniprot.org/uniprot/#_A0A0A7C3H3-mappedCitation-18835879 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18835879 |
http://purl.uniprot.org/uniprot/#_A0A0A7C3I1-mappedCitation-18835879 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18835879 |