| http://purl.uniprot.org/citations/19020530 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19020530 | http://www.w3.org/2000/01/rdf-schema#comment | "IgA deficiency (IgAD) and common variable immunodeficiency (CVID) often co-occur in families, associating with chronic inflammatory diseases such as celiac disease (CD). ICOS (inducible co-stimulator) and CTLA4 (cytotoxic T-lymphocyte-associated protein-4) may be important in both disorders, as ICOS is necessary for Ig class-switching and CTLA4 negatively regulates T-cell activation. Linkage and association of CD with CTLA4-ICOS is well documented, we thus aimed to further pinpoint CD susceptibility by haplotype-tagging analysis. We genotyped 663 CD families from Finland and Hungary, 575 additional CD patients from Finland, Hungary and Italy; 275 Swedish and Finnish IgAD individuals and 87 CVID individuals for 14-18 genetic markers in CTLA4-ICOS. Association was found between CTLA4-ICOS and both IgAD (P=0.0015) and CVID (P=0.0064). We confirmed linkage of CTLA4-ICOS with CD (LOD 2.38, P=0.0005) and found association of CTLA4-ICOS with CD (P=0.0009). Meta-analysis of the IgAD, CVID and CD materials revealed intergenic association (P=0.0005). Disease-associated markers were associated with lower ICOS and higher CTLA4 expression, indicating that the risk haplotypes contain functional variants. In summary, we identified a novel shared risk locus for IgAD, CVID and CD, the first report of association between CTLA4-ICOS and IgAD. Association between CD and CTLA4-ICOS was also confirmed in a large European data set."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.org/dc/terms/identifier | "doi:10.1038/gene.2008.89"xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Maki M."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Partanen J."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Hammarstrom L."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Einarsdottir E."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Saavalainen P."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Kurppa K."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Pan-Hammarstrom Q."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Ventura A."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Adany R."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Koskinen S."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Haimila K."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Kaukinen K."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Not T."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Vatta S."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "de Kauwe A."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Kaartinen T."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Pocsai Z."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Szeles G."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Korponay-Szabo I.R."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Koskinen L.L."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Dukes E."xsd:string |
| http://purl.uniprot.org/citations/19020530 | http://purl.uniprot.org/core/author | "Ziberna F."xsd:string |