No associations found between the genes situated at 6p22.1, HIST1H2BJ, PRSS16, and PGBD1 in Japanese patients diagnosed with schizophrenia

Maiko Kitazawa, Tohru Ohnuma, Yuto Takebayashi, Nobuto Shibata, Hajime Baba, Kazutaka Ohi, Yuka Yasuda, Yukako Nakamura, Branko Aleksic, Akira Yoshimi, Tomo Okochi, Masashi Ikeda, Hiroshi Naitoh, Ryota Hashimoto, Nakao Iwata, Norio Ozaki, Masatoshi Takeda, Heii Arai

doi:10.1002/ajmg.b.32049

<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>HIST1H2BJ</jats:italic>, <jats:italic>PRSS16</jats:italic>, and <jats:italic>PGBD1</jats:italic>. 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 <jats:italic>PGBD1</jats:italic>; 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 <jats:italic>HIST1H2BJ</jats:italic>, <jats:italic>PRSS16</jats:italic>, and <jats:italic>PGBD1</jats:italic> were not associated with Japanese patients with schizophrenia. © 2012 Wiley Periodicals, Inc.</jats:p>

No associations found between the genes situated at 6p22.1, <i>HIST1H2BJ</i>, <i>PRSS16</i>, and <i>PGBD1</i> in Japanese patients diagnosed with schizophrenia

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