title: Positive association of the serotonin 5-HT7 receptor gene with schizophrenia in a Japanese population.
abstract: Several lines of evidence suggest that abnormalities in the serotonin system may be related to the pathophysiology of schizophrenia. The 5-HT7 receptor is considered to be a possible schizophrenia-susceptibility factor, based on findings from binding, animal, postmortem, and genomewide linkage studies. In this study, we conducted linkage disequilibrium (LD) mapping of the human 5-HT7 receptor gene (HTR7) and selected four 'haplotype-tagging (ht) SNPs'. Using these four htSNPs, we then conducted an LD case-control association analysis in 383 Japanese schizophrenia patients and 351 controls. Two htSNPs (SNP2 and SNP5) and haplotypes were found to be associated with schizophrenia. A promoter SNP (SNP2) was further assessed in a dual-luciferase reporter assay, but it was not found to have any functional relevance. Although we failed to find an actual susceptibility variant that could modify the function of HTR7, our results support the supposition that HTR7 is a susceptibility gene for schizophrenia in this ethnic group.
authors.affiliation: Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Ikeda
authors.forename: Nakao
authors.initials: N
authors.lastname: Iwata
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Kitajima
authors.forename: Tatsuyo
authors.initials: T
authors.lastname: Suzuki
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Yamanouchi
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kinoshita
authors.forename: Norio
authors.initials: N
authors.lastname: Ozaki
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011985:Receptors, Serotonin / Q000235:genetics*; D012559:Schizophrenia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D011985:Receptors, Serotonin; C104425:serotonin 7 receptor