Chebotareva A D, Levin O S, Markov D D, Sychev D A, Grishina E A
Russian Medical Academy of Continuous Professional Education, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(6. Vyp. 2):90-94. doi: 10.17116/jnevro201811806290.
Treatment of dementia is an urgent problem of modern neurology. Currently, four drugs are recommended to treat dementia, two of which (donepezil and galantamine) are metabolized with participation of the CYP2D6 enzyme. Genetic heterogeneity of CYP2D6 is associated with different enzyme activity, which affects the concentration of its substrates in blood and, accordingly, the clinical effect and the risk of side-effects of drugs.
To genotype the single nucleotide polymorphism 1846G>A in the CYP2D6 gene and evaluate its effect on the efficacy and safety of donepezyl in the treatment of Alzheimer's disease (AD).
Twenty-one patients with AD were genotyped for the CYP2D6 1846G>A polymorphism, which corresponds to the most common in Caucasians allele CYP2D6*4. An effect of this polymorphism on the efficacy and safety of donepezyl was assessed.
There was no association between the CYP2D6 genotype and the efficacy of antidementia therapy (OR=0,44, 95% CI -3.0-1,38; p=0,46).
痴呆症的治疗是现代神经病学的一个紧迫问题。目前，推荐四种药物用于治疗痴呆症，其中两种（多奈哌齐和加兰他敏）在细胞色素P450 2D6（CYP2D6）酶的参与下进行代谢。CYP2D6的基因异质性与不同的酶活性相关，这会影响其底物在血液中的浓度，进而影响药物的临床效果和副作用风险。
对CYP2D6基因中的单核苷酸多态性1846G>A进行基因分型，并评估其对多奈哌齐治疗阿尔茨海默病（AD）疗效和安全性的影响。
对21例AD患者进行CYP2D6 1846G>A多态性基因分型，该多态性对应于白种人中最常见的等位基因CYP2D6*4。评估该多态性对多奈哌齐疗效和安全性的影响。
CYP2D6基因型与抗痴呆治疗疗效之间无关联（比值比=0.44，95%置信区间为-3.0至1.38；p=0.46）。
