title: 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.
abstract: 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.
authors.affiliation: Steno Diabetes Center, Gentofte, Denmark.
authors.forename: R
authors.initials: R
authors.lastname: Bergholdt
authors.forename: A E
authors.initials: AE
authors.lastname: Karlsen
authors.forename: J
authors.initials: J
authors.lastname: Johannesen
authors.forename: P M
authors.initials: PM
authors.lastname: Hansen
authors.forename: C A
authors.initials: CA
authors.lastname: Dinarello
authors.forename: J
authors.initials: J
authors.lastname: Nerup
authors.forename: F
authors.initials: F
authors.lastname: Pociot
mesh_terms: D000483:Alleles; D001483:Base Sequence; D016384:Consensus Sequence; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D005810:Multigene Family; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D017472:Receptors, Interleukin-1 / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D017472:Receptors, Interleukin-1