1. Neither an intronic CA repeat within the CD48 gene nor the HERV-K18 polymorphisms are associated with type 1 diabetes
- Author
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S Ghebru, J. Herwig, B. Van der Auwera, J. Van Autreve, Folefac Aminkeng, Erhard Seifried, Klaus Badenhoop, Christian Seidl, Elizabeth Ramos-Lopez, Medical Biochemistry, and Pathologic Biochemistry and Physiology
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Male ,Linkage disequilibrium ,Genotype ,type 1 diabetes ,viruses ,Immunology ,Endogenous retrovirus ,Disease ,CD48 Antigen ,Biology ,Biochemistry ,Linkage Disequilibrium ,Antigens, CD ,Genetics ,medicine ,Humans ,Immunology and Allergy ,Genetic Predisposition to Disease ,Child ,Dinucleotide Repeats ,CD48 ,Type 1 diabetes ,Polymorphism, Genetic ,Superantigens ,Endogenous Retroviruses ,Haplotype ,Case-control study ,Membrane Proteins ,General Medicine ,medicine.disease ,Introns ,Diabetes Mellitus, Type 1 ,Case-Control Studies ,Child, Preschool ,embryonic structures ,Female ,HERV-K18 ,TCF7L2 ,Software - Abstract
Type 1 diabetes is an autoimmune heterogeneous disease that is determined by environmental and genetic factors. A possible retroviral etiology has been inferred from the observation that human endogenous retrovirus (HERV)-K18 encoding a superantigen (SAg) has a polymorphism associated with this disease. Type 1 diabetes families from Germany and Belgium were genotyped for the novel HERV-8914 (303 families) and for the known HERV-8594 (284 families) polymorphisms within the SAg-coding region on the HERV-K18. Case-control analysis was performed for the HERV-8914 polymorphism (506 patients) and for the HERV-8594 polymorphism (370 patients) and compared with 350 German controls. Haplotypes were constructed. Additionally, a microsatellite within the CD48 gene was analyzed in German type 1 diabetes families (n=125) as well as in patients (n=375) and in healthy controls (n=350). No association was found for HERV-K18 polymorphisms or the CA repeat within the CD48 gene with type 1 diabetes mellitus either in families or by comparing patients and controls. In conclusion, we cannot confirm a role of HERV-K18 polymorphisms -HERV-8914 and HERV-8594- or of the CD48 CA repeat for type 1 diabetes susceptibility.
- Published
- 2006
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