载脂蛋白E（APOE）和α7烟碱型乙酰胆碱受体（CHRNA7）基因对阿尔茨海默病不同阶段胆碱酯酶抑制剂治疗认知反应的影响。
Effect of APOE and CHRNA7 genotypes on the cognitive response to cholinesterase inhibitor treatment at different stages of Alzheimer's disease.
作者信息
Braga Ianna Lacerda Sampaio, Silva Patricia Natalia, Furuya Tatiane Katsue, Santos Leonardo Caires, Pires Belisa Caldana, Mazzotti Diego Robles, Bertolucci Paulo Henrique, Cendoroglo Maysa Seabra, Smith Marília Cardoso
机构信息
Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), São Paulo-SP, Brazil.
Disciplina de Neurologia Clínica, Departamento de Neurologia e Neurocirurgia (UNIFESP), São Paulo-SP, Brazil.
出版信息
Am J Alzheimers Dis Other Demen. 2015 Mar;30(2):139-44. doi: 10.1177/1533317514539540. Epub 2014 Jun 20.
The loss of cholinergic transmission is considered to be an important cause of Alzheimer's disease (AD). Treatment with acetyl cholinesterase inhibitors (ChEIs) shows benefits; however, great heterogeneity has been observed in patient responses. We evaluated apolipoprotein E (APOE) and α7 nicotinic receptor (CHRNA7) single-nucleotide polymorphisms (SNPs) and associated these SNPs with pharmacological responses to ChEIs in a Brazilian population with AD. We studied 177 outpatients using ChEIs, and they were classified as responders and nonresponders according to variation in Mini-Mental State Examination (MMSE) status. The analysis of APOE genotypes showed that patients with the ε4 allele had a worse response than those without the ε4 allele. We observed an association between the CHRNA7 T allele and a better response to treatment with ChEIs in patients with mild AD (MMSE ≥ 20). The SNP rs6494223 of CHRNA7 as well as APOEε4 could be useful for understanding the response to ChEI treatment in patients with AD.
胆碱能传递的丧失被认为是阿尔茨海默病（AD）的一个重要病因。使用乙酰胆碱酯酶抑制剂（ChEIs）进行治疗显示出益处；然而，在患者反应中观察到了很大的异质性。我们评估了载脂蛋白E（APOE）和α7烟碱受体（CHRNA7）单核苷酸多态性（SNPs），并将这些SNPs与巴西AD患者对ChEIs的药理反应相关联。我们研究了177名使用ChEIs的门诊患者，并根据简易精神状态检查表（MMSE）状态的变化将他们分为反应者和无反应者。APOE基因型分析表明，携带ε4等位基因的患者比不携带ε4等位基因的患者反应更差。我们观察到，在轻度AD（MMSE≥20）患者中，CHRNA7的T等位基因与对ChEIs治疗的更好反应之间存在关联。CHRNA7的SNP rs6494223以及APOEε4可能有助于理解AD患者对ChEI治疗的反应。
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