PLoS ONE (Jan 2013)

Genetic variants on 3q21 and in the Sp8 transcription factor gene (SP8) as susceptibility loci for psychotic disorders: a genetic association study.

  • Kenji Kondo,
  • Masashi Ikeda,
  • Yusuke Kajio,
  • Takeo Saito,
  • Yoshimi Iwayama,
  • Branko Aleksic,
  • Kazuo Yamada,
  • Tomoko Toyota,
  • Eiji Hattori,
  • Hiroshi Ujike,
  • Toshiya Inada,
  • Hiroshi Kunugi,
  • Tadafumi Kato,
  • Takeo Yoshikawa,
  • Norio Ozaki,
  • Nakao Iwata

DOI
https://doi.org/10.1371/journal.pone.0070964
Journal volume & issue
Vol. 8, no. 8
p. e70964

Abstract

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BackgroundRecent genome-wide association studies (GWASs) investigating bipolar disorder (BD) have detected a number of susceptibility genes. These studies have also provided novel insight into shared genetic components between BD and schizophrenia (SCZ), two major psychotic disorders. To examine the replication of the risk variants for BD and the pleiotropic effect of the variants associated with BD, we conducted a genetic association study of single nucleotide polymorphisms (SNPs) that were selected based upon previous BD GWASs, which targeted psychotic disorders (BD and SCZ) in the Japanese population.MethodsForty-eight SNPs were selected based upon previous GWASs. A two-stage analysis was conducted using first-set screening (for all SNPs: BD = 1,012, SCZ = 1,032 and control = 993) and second-set replication samples (for significant SNPs in the screening analysis: BD = 821, SCZ = 1,808 and control = 2,149). We assessed allelic association between BD, SCZ, psychosis (BD+SCZ) and the SNPs selected for the analysis.ResultsEight SNPs revealed nominal association signals for all comparisons (PuncorrectedConclusionsWe found 3p21.1 (including PBRM1, strong linkage disequilibrium made it difficult to pinpoint the risk genes) and SP8 as risk loci for BD, SCZ and psychosis. Further replication studies will be required for conclusive results.