Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort
Introduction: Pharmacogenetics in psychiatry is currently gaining momentum. The efficiency of antipsychotic therapy is often limited by the lack of response and the presence of side effects. Pharmacogenetic variation is probably one of the causative factors for the observed interindividual differenc...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Pensoft Publishers
2021-06-01
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| Series: | Folia Medica |
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| Online Access: | https://foliamedica.bg/article/61484/download/pdf/ |
| _version_ | 1818879243352801280 |
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| author | Hristo Y. Ivanov Branimir Velinov Gergana Kyosovksa Denitsa Grigorova Peter Shopov |
| author_facet | Hristo Y. Ivanov Branimir Velinov Gergana Kyosovksa Denitsa Grigorova Peter Shopov |
| author_sort | Hristo Y. Ivanov |
| collection | DOAJ |
| description | Introduction: Pharmacogenetics in psychiatry is currently gaining momentum. The efficiency of antipsychotic therapy is often limited by the lack of response and the presence of side effects. Pharmacogenetic variation is probably one of the causative factors for the observed interindividual differences in the response to and the side effects of antipsychotics, which could be addressed and whose negative effects could be avoided or mitigated.Aim: The present study aimed to conduct a comprehensive analysis of the frequency of DRD2 rs1799732, COMT rs4680, MC4R rs489693, and HTR2C rs3813929 in Bulgarian psychiatric patients.Materials and methods: The frequency of genotypes and the alleles of variants DRD2 rs1799732, COMT rs4680, MC4R rs489693, and HTR2C rs3813929 were studied in a cohort of 515 Bulgarian psychiatric patients using the polymerase chain reaction (PCR) method.Results: We found no significant difference between our cohort and the dataset of the 1000 Genomes Project. Moreover, we found that 433 out of 515 patients carried at least one, and 191 out of 515 carried at least two variants which, based on multiple scientific sources with consistent findings, could potentially alter the expected response rate, time to respond and/or risk of side effects to antipsychotic medications.Conclusions: Considering the consistent data about the frequency of these pharmacogenetic variants, testing these genetic variants may prove useful in clinical practice. Further studies regarding the clinical interpretation and frequency distribution in larger cohorts and different populations are warranted. |
| first_indexed | 2024-12-19T14:26:59Z |
| format | Article |
| id | doaj.art-14de92a7382c4f2ca858acb28d7b93a5 |
| institution | Directory Open Access Journal |
| issn | 1314-2143 |
| language | English |
| last_indexed | 2024-12-19T14:26:59Z |
| publishDate | 2021-06-01 |
| publisher | Pensoft Publishers |
| record_format | Article |
| series | Folia Medica |
| spelling | doaj.art-14de92a7382c4f2ca858acb28d7b93a52022-12-21T20:17:35ZengPensoft PublishersFolia Medica1314-21432021-06-0163336537110.3897/folmed.63.e6148461484Exploring pharmacogenetic variation in a Bulgarian psychiatric cohortHristo Y. Ivanov0Branimir Velinov1Gergana Kyosovksa2Denitsa Grigorova3Peter Shopov4Medical University of PlovdivInstitute for Medical ResearchInstitute for Medical ResearchSofia UniversityScientific LiaisonIntroduction: Pharmacogenetics in psychiatry is currently gaining momentum. The efficiency of antipsychotic therapy is often limited by the lack of response and the presence of side effects. Pharmacogenetic variation is probably one of the causative factors for the observed interindividual differences in the response to and the side effects of antipsychotics, which could be addressed and whose negative effects could be avoided or mitigated.Aim: The present study aimed to conduct a comprehensive analysis of the frequency of DRD2 rs1799732, COMT rs4680, MC4R rs489693, and HTR2C rs3813929 in Bulgarian psychiatric patients.Materials and methods: The frequency of genotypes and the alleles of variants DRD2 rs1799732, COMT rs4680, MC4R rs489693, and HTR2C rs3813929 were studied in a cohort of 515 Bulgarian psychiatric patients using the polymerase chain reaction (PCR) method.Results: We found no significant difference between our cohort and the dataset of the 1000 Genomes Project. Moreover, we found that 433 out of 515 patients carried at least one, and 191 out of 515 carried at least two variants which, based on multiple scientific sources with consistent findings, could potentially alter the expected response rate, time to respond and/or risk of side effects to antipsychotic medications.Conclusions: Considering the consistent data about the frequency of these pharmacogenetic variants, testing these genetic variants may prove useful in clinical practice. Further studies regarding the clinical interpretation and frequency distribution in larger cohorts and different populations are warranted.https://foliamedica.bg/article/61484/download/pdf/antipsychoticsCOMTDRD2HTR2CMC4Rpharmacog |
| spellingShingle | Hristo Y. Ivanov Branimir Velinov Gergana Kyosovksa Denitsa Grigorova Peter Shopov Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort Folia Medica antipsychotics COMT DRD2 HTR2C MC4R pharmacog |
| title | Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort |
| title_full | Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort |
| title_fullStr | Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort |
| title_full_unstemmed | Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort |
| title_short | Exploring pharmacogenetic variation in a Bulgarian psychiatric cohort |
| title_sort | exploring pharmacogenetic variation in a bulgarian psychiatric cohort |
| topic | antipsychotics COMT DRD2 HTR2C MC4R pharmacog |
| url | https://foliamedica.bg/article/61484/download/pdf/ |
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