Research Article

Department of Morphology & Basic Pathology – Medical School, Faculdade de Medicina de Jundiaí, Jundiaí, 13202-550, Brazil

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Fernanda Rodrigues-Soares

https://orcid.org/0000-0002-2559-3223

Department of Pathology, Genetics, & Evolution, Institute of Biological & Natural Sciences, Universidade Federal do Triângulo Mineiro, Uberaba, 38035-180, Brazil

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Aline Cristiane Planello

*Author for correspondence:

E-mail Address: alineplanello@g.fmj.br

https://orcid.org/0000-0001-9530-0169

Department of Morphology & Basic Pathology – Medical School, Faculdade de Medicina de Jundiaí, Jundiaí, 13202-550, Brazil

Department of Bioscience, Faculdade de Odontologia de Piracicaba/Universidade de Campinas, 13414-903, Brazil

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Published Online:30 Jan 2024https://doi.org/10.2217/pgs-2023-0211

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Abstract

Purpose: To compare minor allele frequencies (MAFs) of psychiatric drug response variants in a Brazilian admixed cohort with global populations and other Brazilian groups. Methods: PharmGKB MAFs were gathered from publicly available genetic datasets for Brazil and worldwide. Results: Among 146 variants in CYP2D6 and CYP2C19, 41 were present in Brazil, mostly rare (MAF <1%). 11 variants showed significant MAF differences with large effect sizes compared with global populations. CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560), CYP2D6*17 (rs28371706-A) and CYP2D6*29 (rs61736512) exhibited higher frequencies in Brazil, with the latter three also differing from other Brazilian groups. Conclusion: This study highlights significant pharmacogenomic diversity in Brazil and globally, underscoring the need for more research in personalized psychiatric drug therapy.

Keywords:

References

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Vol. 25, No. 2

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History

Received 6 November 2023

Accepted 8 January 2024

Published online 30 January 2024

Published in print January 2024

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Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.futuremedicine.com/doi/suppl/10.2217/pgs-2023-0211

Author contributions

AC Planello was responsible for the study design. AC Planello and F Rodrigues-Soares coordinated the study. HP Ribeiro and BM Baraldi collected the data. HP Ribeiro, BM Baraldi and AC Planello AC analyzed the data. HP Ribeiro, BM Baraldi and AC Planello wrote the manuscript. HP Ribeiro, BM Baraldi, F Rodrigues-Soares and AC Planello were responsible for discussing the results. All authors reviewed the manuscript.

Financial disclosure

HP Ribeiro was supported by scholarship from the Brazilian National Council for Scientific and Technological Development – PIBIC/CNPq. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Competing interests disclosure

The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. Since this study utilized unidentified publicly available data, it was exempt from review by a Research Ethics Committee.

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Psychiatric Level 1A evidence pharmacogenomics in a Brazilian admixed cohort and global populations

Abstract

References