title: Novel polymorphism in the promoter and coding regions of the human cholecystokinin B receptor gene: an association analysis with schizophrenia.
abstract: Genetic variations in the 5'-untranslated region and the coding region of the CCK-B receptor (CCK-BR) gene were investigated in healthy controls. Novel variants (-215 C-->A, Leu37Phe, Arg319Glu) were found in addition to the mutations (Val125Iso, His207His, Arg215His, 2491 C-->A) reported previously. In the present study, association analysis was carried out for these variants between 80 unrelated schizophrenic patients and 100 healthy controls. The genotype frequency of the -215 C-->A nucleotide substitution in the 5'-untranslated region of CCK-BR gene was significantly higher in the schizophrenic patients than in the controls (6.25%, P = 0.037). However, the difference was not significant after Bonferroni correction for multiple comparisons. Moreover, no association was found between the clinical characteristics of the patients and the genotype frequencies of the variants. These results suggest that the CCK-BR gene polymorphisms have no association with schizophrenia nor its clinical heterogeneity. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:700-704, 1999.
authors.affiliation: Department of Psychiatry, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Japan. mg8@ea.mbn.or.jp
authors.forename: H
authors.initials: H
authors.lastname: Tachikawa
authors.forename: S
authors.initials: S
authors.lastname: Harada
authors.forename: Y
authors.initials: Y
authors.lastname: Kawanishi
authors.forename: T
authors.initials: T
authors.lastname: Okubo
authors.forename: H
authors.initials: H
authors.lastname: Shiraishi
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D043887:Receptor, Cholecystokinin B; D011949:Receptors, Cholecystokinin / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D043887:Receptor, Cholecystokinin B; D011949:Receptors, Cholecystokinin