Related Experiment Video
Updated: Apr 11, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
CACNA1C gene and schizophrenia: a case-control and pharmacogenetic study
Stefano Porcelli1, Soo-Jung Lee, Changsu Han
1aDepartment of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy bDepartment of Psychiatry, The Catholic University of Korea College of Medicine cDepartment of Psychiatry, College of Medicine, Korea University, Seoul, Republic of Korea dDepartment of Psychiatry and Behavioural Sciences, Duke University Medical Center, Durham, North Carolina, USA.
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.
More Related Videos
07:38Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
Published on: March 30, 2015
09:52Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
Published on: April 19, 2013
Related Concept Videos
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Psychological and Sociocultural Causes of Schizophrenia
Pharmacogenomics: Identification of New Drug Targets