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http://purl.uniprot.org/citations/12072047http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12072047http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Addison's disease is associated with particular haplotypes of the human leucocyte antigen (HLA) region [DQA1*0501-DQB1*0201 (DQ2) and DQA1*0301-DQB1*0302 (DQ8)]. This locus harbours several human endogenous retroviral (HERV) long-terminal repeats (LTR). LTRs within the HLA region have been shown to confer additional susceptibility to type 1 diabetes and rheumatoid arthritis.

Design

We investigated the role of LTR3 and LTR13, both of which are located adjacent to the DQB1 gene, in Addison's disease.

Patients

Eighty-seven patients and 160 controls were genotyped for HLA-DQA, -DQB, and the presence or absence of LTR3 and LTR13.

Results

Significantly more patients' HLA alleles than those of controls carried the LTR13 insertion (19.0% vs. 10.6%, P = 0.0143), whereas there was only a trend for LTR3 (allele-wise chi-squared test: P = 0.0941). Both, LTR3 and LTR13 are in strong linkage disequilibrium with DQ8, which itself was significantly more frequent in patients than in controls (29.9% vs. 15.0%, P = 0.0089). However, significantly more alleles of DQ8+ patients than of DQ8+ controls carried the LTR13 insertion (44.2% vs. 18.8%, P = 0.0119), whereas we did not observe any difference for LTR3 in the DQ8+ subset (30.5 vs. 23.1%, P = 0.9416).

Conclusions

We have found preliminary evidence that the endogenous retroviral element DQ-LTR13, but not LTR3, is associated with Addison's disease. LTR13 appears to enhance HLA-DQ8 mediated disease risk. This retroviral insertion therefore might represent a novel susceptibility factor in Addison's disease, but these findings need to be confirmed in a larger data set."xsd:string
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http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Krause M."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Seissler J."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Badenhoop K."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Seidl C."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Seifried E."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Usadel K.H."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Bieda K."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/author"Pani M.A."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/name"Clin Endocrinol (Oxf)"xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/pages"773-777"xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/title"Preliminary evidence that an endogenous retroviral long-terminal repeat (LTR13) at the HLA-DQB1 gene locus confers susceptibility to Addison's disease."xsd:string
http://purl.uniprot.org/citations/12072047http://purl.uniprot.org/core/volume"56"xsd:string
http://purl.uniprot.org/citations/12072047http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/12072047
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