CACNA1C gene and schizophrenia: A case-control and pharmacogenetic study

Stefano Porcelli, Soo Jung Lee, Changsu Han, Ashwin A. Patkar, Alessandro Serretti, Chi Un Pae

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)


Aim: The present study aimed to explore whether 24 single nucleotide polymorphisms (SNPs) within the CACNA1C gene were associated with schizophrenia (SCZ) and antipsychotic response. Methods: A sample of 176 SCZ inpatients and 326 healthy controls of Korean ethnicity was collected for this purpose. Psychopathological status was evaluated at baseline and at discharge using the Positive and Negative Syndrome Scale (PANSS). Results: In the case-control study, rs1006737 (P=0.05) and rs2239104 (P= 0.03) were associated with SCZ. Further, the rs10848635-rs1016388-rs1006737 haplotype was also associated with SCZ (P=0.03, simulate P=0.02). In the pharmacogenetic analyses, we did not find any association among the investigated SNPs and improvement in the PANSS total score. However, rs723672 and rs1034936 were associated with improvement in the PANSS positive subscale (respectively, P =0.02 and 0.05), rs2283271 in the negative subscale (P=0.01), rs10848635 and rs1016388 in the general subscale (respectively, P =0.03 and 0.04), and the rs3819536-rs2238062 haplotype (global statistics, P=0.1; simulate P=0.04). Conclusions: Our findings further support a role for the CACNA1C gene, particularly for the rs1006737, in SCZ. Further, five SNPs were associated with improvement in PANSS subscales, suggesting a role for this gene in antipsychotic response as well. However, taking into account the limitations of the present study, further research is needed to confirm our findings.

Original languageEnglish
Pages (from-to)163-167
Number of pages5
JournalPsychiatric Genetics
Issue number4
Publication statusPublished - 2015 Aug 1
Externally publishedYes


  • Pharmacogenetics
  • Rs1006737
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry


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