title: Detection of two new polymorphic sites in the human interleukin-1 beta gene: lack of association with schizophrenia in a French population.
abstract: The pathogenesis of schizophrenia might involve abnormal development of the human brain. Interleukin-1 beta is a cytokine implicated in the development of the central nervous system and therefore its gene is a candidate gene in schizophrenia. Polymorphisms within the coding sequence and the 3'UTR of the IL1 beta gene were searched for using PCR-SSCP. Two polymorphisms, 1B-175/1B-173 and 1B-1765/1B-1763 were found in addition to the previously published TaqI site. Furthermore, a mutant was found in codon 106 (exon 5) of the IL1 beta gene located next to the published polymorphism at the TaqI site and abolishing this site. This novel mutation encodes an Asp in place of an Asn and was only observed in one patient in our French population. Association studies were conducted with the polymorphisms 1B-175/1B-173 and TaqI. There was no allelic or genotypic association between either of the two polymorphisms and schizophrenia. In our population, there is no evidence that the IL1 beta gene is involved in schizophrenia.
authors.affiliation: Laboratoire de Génétique Moléculaire de la Neurotransmission et des Processus Neurodégénératifs UMR C9923, CNRS Bâtiment CERVI, Hôpital de la Pitié Sâlpêtrière, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Laurent
authors.forename: F
authors.initials: F
authors.lastname: Thibaut
authors.forename: P
authors.initials: P
authors.lastname: Ravassard
authors.forename: D
authors.initials: D
authors.lastname: Campion
authors.forename: D
authors.initials: D
authors.lastname: Samolyk
authors.forename: C
authors.initials: C
authors.lastname: Lafargue
authors.forename: M
authors.initials: M
authors.lastname: Petit
authors.forename: M
authors.initials: M
authors.lastname: Martinez
authors.forename: J
authors.initials: J
authors.lastname: Mallet
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001216:Asparagine; D001224:Aspartic Acid; D005091:Exons; D005260:Female; D005602:France; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D015183:Restriction Mapping; D012559:Schizophrenia / Q000235:genetics* / Q000276:immunology; D017384:Sequence Deletion
chemical_list: D007375:Interleukin-1; D001224:Aspartic Acid; D001216:Asparagine