| http://purl.uniprot.org/citations/15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15158329 | http://www.w3.org/2000/01/rdf-schema#comment | "Background/aimsSusceptibility HLA class II alleles associated with autoimmune hepatitis (AIH) were only described in case-control studies.MethodsThe transmission/disequilibrium test was used in 50 simplex families with AIH, to determine if affected offspring received the disease-associated allele more frequently than its alternate. HLA-DRB1 and DQB1 allele genotyping and autoimmune regulator (AIRE) polymorphisms located in exons 6, 8 and 10 were investigated by PCR-based methods.ResultsHLA-DRB1*03 allele was significantly transmitted from heterozygous parent to affected offspring (81.5%) with type 1 AIH compared to random expected frequency (50.0%; P=0.004) or to unaffected offspring (42.8%; P=0.03). HLA-DRB1*1301 allele showed an excess transmission to affected children (100%) than expected frequency (P<0.0001) or unaffected offspring (P=0.001). The transmission of DQB1*201 or DQB1*0603 alleles showed significant deviation in patients compared to random frequencies: (84.8%; P<0.0001 for DQB1*0201 or 100%; P<0.0001 for DQB1*0603). HLA-DQB1*0201 showed a strong association with type 2 AIH in children (100.0%, P=0.0005).ConclusionsHLA-DRB1 gene is the major genetic determinant in HLA class II region for children with type 1 AIH. Type 2 AIH is associated with the HLA-DQB1gene. Finally, AIRE gene abnormality does not contribute to the development of isolated AIH."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jhep.2004.02.023"xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/author | "Alvarez F."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/author | "Caillat-Zucman S."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/author | "Djilali-Saiah I."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/author | "Debray D."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/author | "Renous R."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/name | "J Hepatol"xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/pages | "904-909"xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/title | "Linkage disequilibrium between HLA class II region and autoimmune hepatitis in pediatric patients."xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://purl.uniprot.org/core/volume | "40"xsd:string |
| http://purl.uniprot.org/citations/15158329 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15158329 |
| http://purl.uniprot.org/citations/15158329 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C3H3-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C3I1-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C3I5-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0A0WDZ3-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0E3DD66-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A141AZI1-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A141AZI3-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A141AZI4-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0A0WAE5-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |
| http://purl.uniprot.org/uniprot/#_A0A0A0WB88-mappedCitation-15158329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15158329 |