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http://purl.uniprot.org/citations/11914751http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11914751http://www.w3.org/2000/01/rdf-schema#comment"

Aims/hypothesis

HLA-DQ genes, located in the human leukocyte antigen region on chromosome 6 p, are the main inherited factors predisposing to Type I (insulin-dependent) diabetes mellitus. Endogenous retroviral long-terminal repeats are integrated at several sites within this region, one of which is known to enhance susceptibility for Type I diabetes. We examined another LTR within the HLA-region as an additional genetic risk marker.

Methods

We investigated the segregation of one long-terminal repeat (DQ-LTR13), located 1.3 kb upstream of HLA DQB1 with different HLA-DQ haplotypes, and its transmission to patients. A total of 284 Caucasian families (203 German and 81 Belgian) with at least one diabetic offspring were genotyped for DQA1, DQB1 and DQ-LTR13.

Results

DQ8/LTR13(+) was preferentially transmitted (139 transmitted vs 28 not transmitted; P(TDT) = 1.67 x 10(-14)) whereas no deviation from expected transmission frequencies was observed for DQ8/LTR13(-) (20 transmitted vs 17 not transmitted; P(TDT) = 1.00). DQ8/LTR13(+) alleles conferred a significantly higher risk for Type I diabetes than DQ8/LTR13(-) alleles (p chi(2) = 2.58 x 10(-14)). This difference remained significant even after DRB1 subtyping (p chi(2) = 0.02). Also, there was a significant difference when comparing the transmission of DQ2/LTR13(+) and DQ2/LTR13(-) alleles (p chi(2) = 0.01), the latter conferring an increased risk. The transmission of DQ-LTR13(+) haplotypes did not show any differences regarding paternal, maternal or gender-related stratification. However, DQ8/LTR13(-) was significantly more often transmitted from mothers (p chi(2) = 0.01) and to female patients (p chi(2) = 0.04).

Conclusion/interpretation

We conclude that DQ-LTR13 marks additional genetic risk for Type I diabetes on predisposing DRB1(*)0401-DQ8 and DQ2 haplotypes and will help to further define susceptibility in this gene region."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.org/dc/terms/identifier"doi:10.1007/s00125-001-0753-x"xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Tonjes R.R."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Badenhoop K."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Seidl C."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Gorus F."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"van der Auwera B."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Usadel K.H."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Bieda K."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/author"Pani M.A."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/name"Diabetologia"xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/pages"443-447"xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/title"A retroviral long terminal repeat adjacent to the HLA DQB1 gene (DQ-LTR13) modifies Type I diabetes susceptibility on high risk DQ haplotypes."xsd:string
http://purl.uniprot.org/citations/11914751http://purl.uniprot.org/core/volume"45"xsd:string
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