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Updated: Mar 29, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Relationship between phosphoinositide-3-kinase genetic polymorphism and schizophrenia
Dor Mohammad Kordi-Tamandani1, Atefeh Mir1
1a Department of Biology , University of Sistan and Baluchestan , Zahedan , Iran.
This study investigated the PIK3CA gene
Area of Science:
- Genetics and Molecular Biology
- Neuroscience
- Psychiatry
Background:
- Schizophrenia is a common mental disorder affecting 1% of the global population.
- Phosphoinositide-3-kinases (PI3Ks) are enzymes crucial for cellular functions and signaling pathways.
- The PIK3CA gene encodes a key subunit of PI3K, implicated in various cellular processes.
Purpose of the Study:
- To analyze the association between specific single nucleotide polymorphisms (SNPs) in the PIK3CA gene and schizophrenia risk.
- To investigate the role of PIK3CA gene variants rs6443624, rs7640662, and rs7621329 in schizophrenia development.
Main Methods:
- A case-controlled study involving 108 schizophrenia patients and 108 healthy controls.
- DNA extraction from blood samples for genetic analysis.
- Genotyping of PIK3CA SNPs (rs6443624, rs7640662, rs7621329) using tetra primer ARMS-PCR.
Main Results:
- A significant association was found between the CT and CT+TT genotypes of rs7621329 and an increased risk of schizophrenia (OR=6.4, p<0.0001).
- No significant association was observed for the rs6443624 and rs7640662 genotypes with schizophrenia risk.
Conclusions:
- The PIK3CA gene polymorphism at the rs7621329(C/T) site is associated with an increased risk of schizophrenia.
- Further research with larger sample sizes is recommended to validate these findings in diverse genetic populations.
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