http://purl.uniprot.org/citations/18932050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/18932050 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveCoeliac disease (CD) is associated with HLA-DQ2 and DQ8. The clinical picture is variable and certain human leucocyte antigen (HLA) DQ/DR combinations have a higher relative risk (RR) for CD than others. Moreover, the HLA-DQ gene-dose effect has an impact on the strength of the gluten-specific T-cell response and thus may correlate with clinical presentation and severity of CD. The aim of this study was to determine the correlation between HLA-DQ/DR-based genotypes and the variation in phenotypes of the disease.Material and methodsA total of 113 non-related Caucasian children clinically diagnosed with CD during the period 1980-2003 with a known HLA type were included in the study. Patients were divided into four categories according to amount of disease expression predisposing to HLA-DQ2 or HLA-DQ8 molecules and the known RR of their HLA-DR/DQ type for CD: high (DR3DQ2 homozygous and DR3DQ2/DR7DQ2), substantial (DR3DQ2/DR5DQ7 and DR5DQ7/DR7DQ2), moderate (DR3DQ2-DR4DQ8 and DR3DQ2/DR*DQ*) and low (DR7DQ2/DR*DQ*, DR4DQ8- DR*DQ* and DR*DQ*-DR*DQ*). The clinical data and HLA genotypes of these patients were compared.ResultsThe 113 children were diagnosed with CD at a mean age of 4.6 years and boys were significantly older than girls when diagnosed (p=0.01). RR for having CD was highest for the high HLA-risk group (RR 8.1). With the exception of a greater frequency of abdominal distension and fewer non-gastrointestinal symptoms in the substantial HLA-risk group, there were no significant differences in clinical characteristics or degree of severity of the small-bowel histological findings between the children in the different HLA-risk groups.ConclusionNo correlation was found between disease severity and a double HLA-DQ2 gene dose."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.org/dc/terms/identifier | "doi:10.1080/00365520802116422"xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Mearin M.L."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Koning F."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Yuksel Z."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Verduijn W."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Doxiadis I.I."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Schreuder G.M."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Hogen Esch C.E."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/author | "Vermeulen B.A."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/name | "Scand J Gastroenterol"xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/pages | "40-45"xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/title | "Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect."xsd:string |
http://purl.uniprot.org/citations/18932050 | http://purl.uniprot.org/core/volume | "44"xsd:string |
http://purl.uniprot.org/citations/18932050 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18932050 |
http://purl.uniprot.org/citations/18932050 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18932050 |
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http://purl.uniprot.org/uniprot/#_A0A0A7C3I1-mappedCitation-18932050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18932050 |
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http://purl.uniprot.org/uniprot/#_A0A0E3DC97-mappedCitation-18932050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18932050 |
http://purl.uniprot.org/uniprot/#_A0A0E3DC99-mappedCitation-18932050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18932050 |
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http://purl.uniprot.org/uniprot/#_A0A0A0WDZ3-mappedCitation-18932050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18932050 |