| http://purl.uniprot.org/citations/12618858 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12618858 | http://www.w3.org/2000/01/rdf-schema#comment | "Endemic pemphigus foliaceus (EPF) is a blistering skin disease characterized by autoantibodies against the desmosomal protein desmoglein 1. Genetic and environmental factors influence its pathogenesis. A total of 128 patients and 402 controls from an ethnically admixed Brazilian population were analyzed for associations by allele and genotype with HLA-DRB1. The alleles DRB1(*)0101, (*)0102, (*)0103, (*)0404, (*)0406, (*)0410, (*)1406 and (*)1601 are significantly more frequent among patients, while DRB1(*)0301, (*)0701, (*)0801, (*)1101, (*)1104 and (*)1402 are negatively associated to EPF. Results of association analysis with protein motifs composed of polymorphic amino-acid residues do not add much to comprehension of the molecular basis of the HLA-DRB1/EPF associations. Interactions between susceptible (SU), protective (PR) and neutral (NE) alleles clearly deviate from the codominant model. Protection is dominant, since the PR/NE and PR/PR genotypes are both equally (P=0.95) and strongly protective (odds ratio OR=0.07 and 0.05, respectively; P<10(-6) for both). The SU/SU genotype confers a higher (P=0.012) risk than genotype SU/NE (OR=8.7 and 4.0; P<10(-6) for both), an evidence of a semi-dominant effect of SU alleles relative to NE alleles. The OR for the SU/PR genotype (statistically close to 1) is consistent with semi-dominance between PR and SU alleles. Knowledge of these allelic interactions is relevant for understanding the mechanisms underlying autoimmune disease pathogenesis."xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.gene.6363939"xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/author | "Petzl-Erler M.L."xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/author | "Pavoni D.P."xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/author | "Marquart Filho A."xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/author | "Roxo V.M."xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/name | "Genes Immun"xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/pages | "110-116"xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/title | "Dissecting the associations of endemic pemphigus foliaceus (Fogo Selvagem) with HLA-DRB1 alleles and genotypes."xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/12618858 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12618858 |
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