Neither an intronic CA repeat within the CD48 gene nor the HERV-K18 polymorphisms are associated with type 1 diabetes

Tissue Antigens. 2006 Aug;68(2):147-52. doi: 10.1111/j.1399-0039.2006.00637.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD / genetics*
  • CD48 Antigen
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / genetics*
  • Dinucleotide Repeats
  • Endogenous Retroviruses / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Introns / genetics
  • Linkage Disequilibrium
  • Male
  • Membrane Proteins / genetics*
  • Polymorphism, Genetic
  • Software
  • Superantigens / genetics*

Substances

  • Antigens, CD
  • CD48 Antigen
  • CD48 protein, human
  • ERVK-18 protein, human
  • Membrane Proteins
  • Superantigens