Corponi Filippo, Fabbri Chiara, Serretti Alessandro
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, United Kingdom.
Psychiatry Investig. 2019 Sep;16(9):645-653. doi: 10.30773/pi.2019.06.16. Epub 2019 Aug 29.
Depression leads the higher personal and socio-economical burden within psychiatric disorders. Despite the fact that over 40 antidepressants (ADs) are available, suboptimal response still poses a major challenge and is thought to be partially a result of genetic variation. Pharmacogenetics studies the effects of genetic variants on treatment outcomes with the aim of providing tailored treatments, thereby maximizing efficacy and tolerability. After two decades of pharmacogenetic research, variants in genes coding for the cytochromes involved in ADs metabolism (CYP2D6 and CYP2C19) are now considered biomarkers with sufficient scientific support for clinical application, despite the lack of conclusive cost/effectiveness evidence. The effect of variants in genes modulating ADs mechanisms of action (pharmacodynamics) is still controversial, because of the much higher complexity of ADs pharmacodynamics compared to ADs metabolism. Considerable progress has been made since the era of candidate gene studies: the genomic revolution has made possible to assess genetic variance on an unprecedented scale, throughout the whole genome, and to analyze the cumulative effect of different variants. The results have revealed key information on the biological mechanisms mediating ADs effect and identified hypothetical new pharmacological targets. They also paved the way for future availability of polygenic pharmacogenetic panels to predict treatment outcome, which are expected to explain much higher variance in ADs response compared to CYP2D6 and CYP2C19 only. As the demand and availability of AD pharmacogenetic testing is projected to increase, it is important for clinicians to keep abreast of this evolving area to facilitate informed discussions with their patients.
抑郁症在精神疾病中导致了更高的个人和社会经济负担。尽管有40多种抗抑郁药可供使用,但疗效欠佳仍然是一个重大挑战,并且被认为部分是基因变异的结果。药物遗传学研究基因变异对治疗结果的影响,旨在提供个性化治疗,从而最大限度地提高疗效和耐受性。经过二十年的药物遗传学研究,尽管缺乏确凿的成本效益证据,但参与抗抑郁药代谢的细胞色素(CYP2D6和CYP2C19)编码基因中的变异现在被认为是具有充分科学依据可用于临床应用的生物标志物。调节抗抑郁药作用机制(药效学)的基因变异的影响仍然存在争议,因为抗抑郁药的药效学比其代谢要复杂得多。自候选基因研究时代以来已经取得了相当大的进展:基因组革命使得以前所未有的规模在整个基因组中评估基因变异并分析不同变异的累积效应成为可能。这些结果揭示了介导抗抑郁药作用的生物学机制的关键信息,并确定了假设的新药理学靶点。它们还为未来预测治疗结果的多基因药物遗传学检测铺平了道路,预计与仅检测CYP2D6和CYP2C19相比,这些检测将能解释抗抑郁药反应中更高的变异。随着抗抑郁药药物遗传学检测的需求和可用性预计将会增加,临床医生紧跟这一不断发展的领域,以便与患者进行明智的讨论,这一点很重要。