title: Genome-wide association study of schizophrenia in Japanese population.
abstract: Schizophrenia is a devastating neuropsychiatric disorder with genetically complex traits. Genetic variants should explain a considerable portion of the risk for schizophrenia, and genome-wide association study (GWAS) is a potentially powerful tool for identifying the risk variants that underlie the disease. Here, we report the results of a three-stage analysis of three independent cohorts consisting of a total of 2,535 samples from Japanese and Chinese populations for searching schizophrenia susceptibility genes using a GWAS approach. Firstly, we examined 115,770 single nucleotide polymorphisms (SNPs) in 120 patient-parents trio samples from Japanese schizophrenia pedigrees. In stage II, we evaluated 1,632 SNPs (1,159 SNPs of p<0.01 and 473 SNPs of p<0.05 that located in previously reported linkage regions). The second sample consisted of 1,012 case-control samples of Japanese origin. The most significant p value was obtained for the SNP in the ELAVL2 [(embryonic lethal, abnormal vision, Drosophila)-like 2] gene located on 9p21.3 (p = 0.00087). In stage III, we scrutinized the ELAVL2 gene by genotyping gene-centric tagSNPs in the third sample set of 293 family samples (1,163 individuals) of Chinese descent and the SNP in the gene showed a nominal association with schizophrenia in Chinese population (p = 0.026). The current data in Asian population would be helpful for deciphering ethnic diversity of schizophrenia etiology.
authors.affiliation: Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yamada
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Iwayama
authors.forename: Eiji
authors.initials: E
authors.lastname: Hattori
authors.forename: Kazuya
authors.initials: K
authors.lastname: Iwamoto
authors.forename: Tomoko
authors.initials: T
authors.lastname: Toyota
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ohnishi
authors.forename: Hisako
authors.initials: H
authors.lastname: Ohba
authors.forename: Motoko
authors.initials: M
authors.lastname: Maekawa
authors.forename: Tadafumi
authors.initials: T
authors.lastname: Kato
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009315:National Institute of Mental Health (U.S.); D020133:Reverse Transcriptase Polymerase Chain Reaction; D012559:Schizophrenia / Q000453:epidemiology / Q000235:genetics*; D014481:United States