| http://purl.uniprot.org/citations/16926287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16926287 | http://www.w3.org/2000/01/rdf-schema#comment | "The HLA class I/II alleles and the tumor necrosis factor alpha (TNFA) locus are closely linked in the MHC complex. We have characterized the causative factor VIII mutation, HLA alleles as well as 4 polymorphisms (-827C>T, -308G>A, -238A>G, and 670A>G) in the TNFA gene in 164 patients (124 severe, 26 moderate, and 14 mild) in 78 families with hemophilia A enrolled in the Malmö International Brother Study (MIBS). Inhibitors were identified in 77.8% of patients with a single haplotype (Hap 2) and 72.7% of the patients with the TNFA -308 A/A genotype within this haplotype compared with 39.7% for TNFA -308 G/G patients and 46.9% for TNFA -308 G/A heterozygotes (OR 4.0; 95% CI, 1.4-11.5; P = .008). The association between the -308 A/A genotype and inhibitors was enhanced in subgroups of patients with severe hemophilia (OR 19.2; 95% CI 2.4-156.5; P < .001) and with inversions (n = 75; OR, 11.8; 95% CI, 1.3-105.1; P = .013). Associations were found for the HLA A26 and B44 alleles, but these were not consistent in the subgroup analysis. Our data imply that the TNFA -308G>A polymorphism within Hap 2 is a useful marker and potential modulator of the immune response to replacement therapy in patients with hemophilia."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2006-05-024711"xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Carlson J."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Oldenburg J."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Lefvert A.K."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Astermark J."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Berntorp E."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Kavakli K."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/author | "Pavlova A."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/pages | "3739-3745"xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/title | "Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A."xsd:string |
| http://purl.uniprot.org/citations/16926287 | http://purl.uniprot.org/core/volume | "108"xsd:string |
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| http://purl.uniprot.org/uniprot/#_A0A0E3DCA0-mappedCitation-16926287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16926287 |
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