{
  "abstract": "Background and Importance Pharmacogenetics evaluates the influence of genetic variants (GV) on drug response, supporting personalised therapy to improve efficacy and reduce toxicity, particularly in patients treated with antidepressants or antipsychotics, where it can affect these outcomes.Aim and Objectives To identify the most relevant GV in genes encoding major psychotropic drug-metabolising enzymes in our study population and compare their prevalence with European and Spanish reference frequencies, to support the implementation of European guidelines in clinical practice.Material and Methods Observational, descriptive, prospective, and multidisciplinary study conducted in patients referred from the Psychiatry Department between May 2024 and August 2025. Collected variables include age, sex, diagnosis and genotyping of CYP3A4, CYP2C19, CYP2D6 and CYP2C9.The analysed variants included rs4244285(*2), rs4986893(*3), and rs12248560(*17) of CYP2C19; rs1799853(*2) and rs1057910(*3) of CYP2C9; rs35599367(*22) of CYP3A4; rs1135840, rs16947, rs35742686(*3), rs3892097(*4), rs5030655(*6), rs5030656(*9), rs1065852(*10), rs28371706(*17), rs28371725(*41) and rs59421388(*29) of CYP2D6.DNA samples were extracted from peripheral blood using the SaMag-12 system. Genetic variants were analysed by real-time PCR with TaqMan probes(QS1).Genotyping was performed for the following variants depending on the patient’s treatment.Statistical analysis was performed using Stata 13.1.Results A total of 52 patients were included (50% male). The median age was 51.5 years (IQR 40.0–59.0). The median number of variants analysed per patient was 14 (IQR 14–15). Bipolar disorder was the most frequent diagnosis (78.9%), followed by psychotic disorders (13.5%).The genotypic population frequency of WT patients was:CYP2C19*2: 67.3%, CYP2C19*3: 100.0%, CYP2C19*17: 63.5%; CYP2C9*2: 59.3%, CYP2C9*3: 94.4%; CYP3A4*22: 90.4%; CYP2D6(rs1135840): 30.8%, CYP2D6(rs16947): 42.3%, CYP2D6*3: 100.0%, CYP2D6*4: 61.5%, CYP2D6*6: 98.1%, CYP2D6*9: 92.3%, CYP2D6*10: 59.6%, CYP2D6*17: 100.0%, CYP2D6*41: 82.7%, CYP2D6*29: 100.0%.Statistically significant differences were observed only for CYP2D6*4, with a higher heterozygous frequency in our patients (38.5% vs 23.4%; p=0.025), and CYP2C9*3, with a higher wild-type (94.4% vs 83.2%; p=0.039) than in the Spanish reference population. No significant differences were found when compared with the European population.Conclusion and Relevance The results show that our population generally follows European and Spanish genetic trends, except for CYP2D6* 4 and CYP2C9*3 when compared with the Spanish population, possibly due to the small sample size. These findings highlight the importance of incorporating the analysis of these GV to optimise psychiatric treatment and improve outcomes.Conflict of Interest No conflict of interest",
  "authors": [
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "D Gallen Soria"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "LM Sánchez-Fortún Vázquez"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "M Gil Candel"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Psychiatry Department, Valencia, Spain"
      ],
      "name": "P Sierra San Miguel"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Psychiatry Department, Valencia, Spain"
      ],
      "name": "LM Rojo Bofill"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Psychiatry Department, Valencia, Spain"
      ],
      "name": "A Dominguez Carabantes"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "A Solana Altabella"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "B Arnau Blasco"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "M Chovi Trull"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Pharmacy Department, Valencia, Spain"
      ],
      "name": "V Boso Ribelles"
    },
    {
      "affiliations": [
        "Hospital Universitario Y Politécnico La Fe, Management Department, Valencia, Spain"
      ],
      "name": "JL Poveda Andrés"
    }
  ],
  "title": "4CPS-164 Allelic frequency of CYP2D6, CYP2C9, CYP2C19, and CYP3A4 genetic variants in patients treated with antipsychotics and antidepressants",
  "uid": "d6051aa3-d5b7-556f-96f6-f5cbdc90b1d6"
}