Investigating CYP2C9*3 Polymorphisms in Patients with Neuropsychological Disorders through Pharmacogenomics Testing

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ABSTRACT Background The CYP2C9 gene encodes the cytochrome P450 2C9 enzyme, which plays a key role in metabolizing various drugs. Genetic polymorphisms in CYP2C9 may alter enzyme activity, influencing drug metabolism and treatment response. This study investigates the distribution of CYP2C9*3 polymorphisms and predicted phenotypes in patients with neuropsychological disorders, including bipolar disorder, depression, and schizophrenia, through pharmacogenomics testing. Methods Blood samples were collected from 20 patients (9 with depression, 6 with bipolar disorder, and 4 with schizophrenia). Genomic DNA was extracted using the Invitrogen CYP2C9 DNA kit. Genotyping was performed with TaqMan Genotyping Assays (Applied Biosystems) on the Thermo Fisher QuantStudio 5 Real-Time PCR system. Allele frequencies were evaluated for the Hardy-Weinberg equilibrium. Results Among the 20 patients, the distribution of CYP2C9*3 genotypes was 60% (n=12) AA and 40% (n=8) AC. Allele frequencies were 80% (n=32) for the A allele and 20% (n=8) for the C allele. Predicted metabolic phenotypes showed 60% extensive metabolizers (EM) and 40% intermediate metabolizers (IM). Conclusions Our findings indicate that the *1/*1 genotype appears more often than the *1/*3 genotype in patients with neuropsychological disorders. The identification of intermediate metabolizers highlights the potential of pharmacogenomics testing to guide drug therapy. Given the small sample size, results should be interpreted with caution. Future studies with larger groups, more CYP2C9 variants, and post-treatment follow-up are needed to better understand genetic influences on drug metabolism.

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