title: Association study of polymorphisms in the GluR5 kainate receptor gene (GRIK1) with schizophrenia.
abstract: The glutamatergic dysfunction hypothesis suggests genes involved in glutamatergic transmission as candidates for schizophrenia susceptibility genes. We screened single nucleotide polymorphisms (SNPs) in the entire coding sequence of the GluR5 kainate receptor gene, GRIK1, by polymerase chain reaction-single strand conformation polymorphism and direct sequencing. We identified six SNPs including three known ones, 522A/C (174T, synonymous), 1173C/T (391D, synonymous), and 2705C/T (902L/S), as well as three novel ones, 995C/T (332A/V), 2400C/T (800L, synonymous), and 2585A/G (862R/Q). We genotyped Japanese samples of schizophrenia (n = 193-203) and healthy controls (n = 199-215) for three SNPs those were commonly observed in our samples, 522A/C, 1173C/T, and 2705C/T. We observed no significant associations of the SNPs and their haplotypes with schizophrenia. Therefore, we conclude that GRIK1 does not play a major role in schizophrenia pathogenesis in the Japanese population.
authors.affiliation: Research Centre for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shibata
authors.forename: A
authors.initials: A
authors.lastname: Joo
authors.forename: Y
authors.initials: Y
authors.lastname: Fujii
authors.forename: A
authors.initials: A
authors.lastname: Tani
authors.forename: C
authors.initials: C
authors.lastname: Makino
authors.forename: N
authors.initials: N
authors.lastname: Hirata
authors.forename: R
authors.initials: R
authors.lastname: Kikuta
authors.forename: H
authors.initials: H
authors.lastname: Ninomiya
authors.forename: N
authors.initials: N
authors.lastname: Tashiro
authors.forename: Y
authors.initials: Y
authors.lastname: Fukumaki
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics*; D012016:Reference Values; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate