title: Cloning and functional analysis of the allelic polymorphism in the transcription regulatory region of interleukin-1 alpha.
abstract: A strong correlation between the TT(-889) genotype over CC(-889) of the interleukin-1 alpha (IL-1 alpha) transcription regulatory region and age of Alzheimer's disease onset has recently been reported. To determine the functional effects of the genetic variants on plasma protein levels, we cloned the promoter region and determined its activity. The TT genotype significantly increased the transcriptional activity of the IL-1 alpha gene with respect to the CC genotype. A slight increase of the IL-1 alpha mRNA and protein levels was also observed in the plasma.
authors.affiliation: Institute of Biomedical Sciences and Department of Neurology, Ospedale Luigi Sacco, Milan, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Dominici
authors.forename: Monica
authors.initials: M
authors.lastname: Cattaneo
authors.forename: Giulia
authors.initials: G
authors.lastname: Malferrari
authors.forename: Davide
authors.initials: D
authors.lastname: Archi
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.forename: Luigi Maria Edoardo
authors.initials: LM
authors.lastname: Grimaldi
authors.forename: Ida
authors.initials: I
authors.lastname: Biunno
mesh_terms: D000483:Alleles; D002460:Cell Line; D002478:Cells, Cultured; D003001:Cloning, Molecular; D003596:Cytosine; D005838:Genotype; D006801:Humans; D007375:Interleukin-1 / Q000096:biosynthesis / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000187:drug effects / Q000276:immunology; D008070:Lipopolysaccharides / Q000494:pharmacology; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000096:biosynthesis; D012045:Regulatory Sequences, Nucleic Acid; D013941:Thymine; D014158:Transcription, Genetic
chemical_list: D007375:Interleukin-1; D008070:Lipopolysaccharides; D012333:RNA, Messenger; D003596:Cytosine; D013941:Thymine