Characterization of polymorphisms of an interleukin 1 receptor type 1 gene (IL1RI) promotor region (P2) and their relation to insulin-dependent diabetes mellitus (IDDM). The Danish Study Group of Diabetes in Childhood

Cytokine. 1995 Oct;7(7):727-33. doi: 10.1006/cyto.1995.0086.


We have identified two PstI polymorphisms of the interleukin 1 receptor type I gene (IL1RI). One of these (RFLP-A) showed significant association to IDDM (P = 0.027), whereas no difference between patients and control subjects was found for RFLP-B (p = 0.42). RFLP-A was physically mapped to the 5'UTR of the gene. We sequenced and analysed a 411 bp region of a putative promotor region (P2) around RFLP-A. RFLP-A was due to a C to T transition in exon 1B of the IL1RI gene. This single-base mutation did not affect any known transcription factor recognition sequence or the predicted secondary mRNA structure. In addition, we found two other single-base substitutions in more than one individual. Neither of these showed specific disease association or absolute linkage with the RFLP-A.

Publication types

  • Clinical Trial
  • Comparative Study
  • Randomized Controlled Trial

MeSH terms

  • Alleles
  • Base Sequence
  • Consensus Sequence
  • Diabetes Mellitus, Type 1 / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Multigene Family
  • Polymorphism, Restriction Fragment Length*
  • Promoter Regions, Genetic*
  • Receptors, Interleukin-1 / genetics*


  • Genetic Markers
  • Receptors, Interleukin-1

Associated data

  • GENBANK/S81089