title: Neither an intronic CA repeat within the CD48 gene nor the HERV-K18 polymorphisms are associated with type 1 diabetes.
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.
authors.affiliation: Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Frankfurt am Main, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Ramos-Lopez
authors.forename: S
authors.initials: S
authors.lastname: Ghebru
authors.forename: J
authors.initials: J
authors.lastname: Van Autreve
authors.forename: F
authors.initials: F
authors.lastname: Aminkeng
authors.forename: J
authors.initials: J
authors.lastname: Herwig
authors.forename: E
authors.initials: E
authors.lastname: Seifried
authors.forename: C
authors.initials: C
authors.lastname: Seidl
authors.forename: B
authors.initials: B
authors.lastname: Van der Auwera
authors.forename: K
authors.initials: K
authors.lastname: Badenhoop
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D000071178:CD48 Antigen; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D018900:Dinucleotide Repeats; D020077:Endogenous Retroviruses / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012984:Software; D018089:Superantigens / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D000071178:CD48 Antigen; C000604065:CD48 protein, human; C107453:ERVK-18 protein, human; D008565:Membrane Proteins; D018089:Superantigens