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Highlights on Pharmacogenetics and Pharmacogenomics in Depression

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Understanding Depression

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Abstract

This chapter summarizes the current knowledge about the pharmacogenetics and pharmacogenomics of antidepressant drugs in major depressive disorder (MDD). Pharmacogenetics is referred to results of candidate gene studies, i.e., studies focused on a limited number of polymorphisms in genes that are known to play a role in antidepressant mechanisms of action (e.g., the serotonin transporter or serotonin receptor) or antidepressant metabolism or transport (e.g., cytochrome P450 genes and MDR1). These studies provided the basis for the first clinical applications that are however of limited clinical use because of the lack of clear evidence of cost/benefits advantages. Importantly, the genetic makeup of antidepressant response is known to be highly polygenic with complex interactions among the variants involved; thus candidate gene studies are per se not enough to provide meaningful findings. For this reason pharmacogenomics has provided a more appropriate methodological approach through genome-wide association studies (GWAS). Analysis approaches derived from GWAS (e.g., pathway analysis and polygenic risk scores) are expected to provide better power to identify the complex polygenic profile modulating antidepressant response. In the last few years, further technological improvements are rapidly leading to a widespread use of whole genome sequencing and the study of genomics in relation to health-related measures collected using medical health records in the general population which will further enhance the knowledge on this field.

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  1. Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy

    Chiara Fabbri & Alessandro Serretti

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  1. Chiara Fabbri
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  2. Alessandro Serretti
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Correspondence to Alessandro Serretti .

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  1. College of Medicine, Korea University, Kyonggi-do, Korea (Republic of)

    Yong-Ku Kim

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Fabbri, C., Serretti, A. (2018). Highlights on Pharmacogenetics and Pharmacogenomics in Depression. In: Kim, YK. (eds) Understanding Depression . Springer, Singapore. https://doi.org/10.1007/978-981-10-6580-4_1

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