title: No associations found between the genes situated at 6p22.1, HIST1H2BJ, PRSS16, and PGBD1 in Japanese patients diagnosed with schizophrenia.
abstract: Recent GWAS demonstrated an association between candidate genes located at region 6p22.1 and schizophrenia. This region has been reported to house certain candidate SNPs, which may be associated with schizophrenia at HIST1H2BJ, PRSS16, and PGBD1. These genes may presumably be associated with pathophysiology in schizophrenia, namely epigenetics and psychoneuroimmunology. A three-step study was undertaken to focus on these genes with the following aims: (1) whether these genes may be associated in Japanese patients with schizophrenia by performing a 1st stage case-control study (514 cases and 706 controls) using Japanese tagging SNPs; (2) if the genetic regions of interest for the disease from the 1st stage of analyses were found, re-sequencing was performed to search for new mutations; (3) finally, a replication study was undertaken to confirm positive findings from the 1st stage were reconfirmed using a larger number of subjects (2,583 cases and 2,903 controls) during a 2nd stage multicenter replication study in Japan. Genotyping was performed using TaqMan PCR method for the selected nine tagging SNPs. Although three SNPs situated at the 3' side of PGBD1; rs3800324, rs3800327, and rs2142730, and two-window haplotypes between rs3800327 and rs2142730 showed positive associations with schizophrenia, these associations did not have enough power to sustain significance during the 2nd stage replication study. In addition, re-sequencing for exons 5 and 6 situated at this region did not express any new mutations for schizophrenia. Taken together these results indicate that the genes HIST1H2BJ, PRSS16, and PGBD1 were not associated with Japanese patients with schizophrenia.
authors.affiliation: Juntendo University Schizophrenia Projects, Department of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Maiko
authors.initials: M
authors.lastname: Kitazawa
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohnuma
authors.forename: Yuto
authors.initials: Y
authors.lastname: Takebayashi
authors.forename: Nobuto
authors.initials: N
authors.lastname: Shibata
authors.forename: Hajime
authors.initials: H
authors.lastname: Baba
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Ohi
authors.forename: Yuka
authors.initials: Y
authors.lastname: Yasuda
authors.forename: Yukako
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Branko
authors.initials: B
authors.lastname: Aleksic
authors.forename: Akira
authors.initials: A
authors.lastname: Yoshimi
authors.forename: Tomo
authors.initials: T
authors.lastname: Okochi
authors.forename: Masashi
authors.initials: M
authors.lastname: Ikeda
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Naitoh
authors.forename: Ryota
authors.initials: R
authors.lastname: Hashimoto
authors.forename: Nakao
authors.initials: N
authors.lastname: Iwata
authors.forename: Norio
authors.initials: N
authors.lastname: Ozaki
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Takeda
authors.forename: Heii
authors.initials: H
authors.lastname: Arai
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006657:Histones / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D006657:Histones; D009419:Nerve Tissue Proteins; C569369:PGBD1 protein, human; C472502:PRSS16 protein, human; D012697:Serine Endopeptidases