Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
CNS Drugs. 2010 Feb;24(2):99-117. doi: 10.2165/11530290-000000000-00000.
One strategy for understanding variability in attention-deficit hyperactivity disorder (ADHD) medication response, and therefore redressing the current trial-and-error approach to ADHD medication management, is to identify genetic moderators of treatment. This article summarizes ADHD pharmacogenetic investigative efforts to date, which have primarily focused on short-term response to methylphenidate and largely been limited by modest sample sizes. The most well studied genes include the dopamine transporter and dopamine D(4) receptor, with additional genes that have been significantly associated with stimulant medication response including the adrenergic alpha(2A)-receptor, catechol-O-methyltransferase, D(5) receptor, noradrenaline (norepinephrine) transporter protein 1 and synaptosomal-associated protein 25 kDa. Unfortunately, results of current ADHD pharmacogenetic studies have not been entirely consistent, possibly due to differences in study design, medication dosing regimens and outcome measures. Future directions for ADHD pharmacogenetics investigations may include examination of drug-metabolizing enzymes and a wider range of stimulant and non-stimulant medications. In addition, researchers are increasingly interested in going beyond the individual candidate gene approach to investigate gene-gene interactions or pathways, effect modification by additional environmental exposures and whole genome approaches. Advancements in ADHD pharmacogenetics will be facilitated by multi-site collaborations to obtain larger sample sizes using standardized protocols. Although ADHD pharmacogenetic efforts are still in a relatively early stage, their potential clinical applications may include the development of treatment efficacy and adverse effect prediction algorithms that incorporate the interplay of genetic and environmental factors, as well as the development of novel ADHD treatments.
一种理解注意力缺陷多动障碍 (ADHD) 药物反应变异性的策略,从而纠正 ADHD 药物管理目前的试错方法,是确定治疗的遗传调节剂。本文总结了迄今为止 ADHD 药物遗传学研究的努力,这些研究主要集中在短期对哌甲酯的反应上,并且主要受到样本量适中的限制。研究最多的基因包括多巴胺转运体和多巴胺 D(4)受体,还有一些与兴奋剂药物反应显著相关的其他基因,包括肾上腺素能α(2A)-受体、儿茶酚-O-甲基转移酶、D(5)受体、去甲肾上腺素(去甲肾上腺素)转运蛋白 1 和突触相关蛋白 25kDa。不幸的是,目前 ADHD 药物遗传学研究的结果并不完全一致,这可能是由于研究设计、药物剂量方案和结果测量的差异所致。ADHD 药物遗传学研究的未来方向可能包括检查药物代谢酶和更广泛的兴奋剂和非兴奋剂药物。此外,研究人员越来越有兴趣超越个体候选基因方法,研究基因-基因相互作用或途径、其他环境暴露的效应修饰以及全基因组方法。通过多地点合作,使用标准化方案获得更大的样本量,将促进 ADHD 药物遗传学的发展。尽管 ADHD 药物遗传学研究仍处于相对早期阶段,但它们的潜在临床应用可能包括开发治疗效果和不良反应预测算法,该算法将遗传和环境因素的相互作用纳入其中,以及开发新的 ADHD 治疗方法。