Department of Psychiatry and Psychotherapy, Division of Biological Psychiatry, Medical University Vienna, Austria.
Int Clin Psychopharmacol. 2009 Nov;24(6):277-88. doi: 10.1097/YIC.0b013e3283306a2f.
Although effective treatment for mood and anxiety disorders have been available for more than 40 years, 30-50% of depressed patients and 25% of patients with anxiety disorder do not respond sufficiently to first-line treatment with antidepressants. Genetic factors are supposed to play a major role in both variation of treatment response and incidence of adverse effects to medication. So far, candidate genes of pharmacokinetic and pharmacodynamic pathways of antidepressants have been investigated, and associations between several candidate genes and response to antidepressants are reported. Two functional polymorphisms of the serotonin transporter gene, 5-HTTLPR and STin2 have been investigated in a large number of pharmacogenetic studies of depression; other candidate genes include serotonin receptor genes, brain-derived neurotrophic factor, P-glycoprotein (located in the blood-brain barrier), G-proteins, TPH1 and TPH2, MAOA, the noradrenaline transporter gene, FKBP5, or cytochrome P450 (CYP450) genes. CYP450 genes play a major role in the metabolism of a substantial part of psychotropics, including antidepressants, and the first estimates of dosage adjustments for antidepressants have been provided based on metabolizer status. Genome-wide association studies that use large numbers of single-nucleotide polymorphisms to screen the entire genome for alleles that influence a trait are now feasible, and the results of the first genome-wide association studies of antidepressant treatment outcome will soon be available. The current review not only updates pharmacogenetic research in depression but also focuses on antidepressant treatment response in anxiety disorders.
尽管心境和焦虑障碍的有效治疗方法已经存在了 40 多年,但仍有 30-50%的抑郁症患者和 25%的焦虑障碍患者对一线抗抑郁药物治疗反应不足。遗传因素在治疗反应的变化和药物不良反应的发生中都起着重要作用。到目前为止,已经研究了抗抑郁药药代动力学和药效学途径的候选基因,并且报告了几个候选基因与抗抑郁药反应之间的关联。在大量的抑郁症药物遗传学研究中,已经研究了 5-羟色胺转运体基因的两个功能多态性,即 5-HTTLPR 和 STin2;其他候选基因包括 5-羟色胺受体基因、脑源性神经营养因子、P-糖蛋白(位于血脑屏障中)、G 蛋白、TPH1 和 TPH2、MAOA、去甲肾上腺素转运体基因、FKBP5 或细胞色素 P450(CYP450)基因。CYP450 基因在包括抗抑郁药在内的大量精神药物的代谢中起着重要作用,并且已经根据代谢物状态提供了抗抑郁药剂量调整的初步估计。现在可以使用大量的单核苷酸多态性来筛选整个基因组中影响特征的等位基因的全基因组关联研究,并且抗抑郁药治疗结果的第一个全基因组关联研究的结果很快就会公布。本综述不仅更新了抑郁症的药物遗传学研究,还重点关注了焦虑障碍中的抗抑郁治疗反应。