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神经递质相关基因的变异与阿尔茨海默病风险和认知功能有关，但与短期治疗反应无关。

Variants in Neurotransmitter-Related Genes Are Associated with Alzheimer's Disease Risk and Cognitive Functioning but Not Short-Term Treatment Response.

作者信息

Zúñiga-Santamaría Tirso, Pérez-Aldana Blanca Estela, Fricke-Galindo Ingrid, González-González Margarita, Trujillo-de Los Santos Zoila Gloria, Boll-Woehrlen Marie Catherine, Rodríguez-García Rosalía, López-López Marisol, Yescas-Gómez Petra

机构信息

Department of Genetics, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City 14269, Mexico.

Master's Program in Pharmaceutical Sciences, Universidad Autónoma Metropolitana Unidad Xochimilco, Mexico City 04960, Mexico.

出版信息

Neurol Int. 2025 Apr 24;17(5):65. doi: 10.3390/neurolint17050065.

DOI:10.3390/neurolint17050065
PMID:40423221
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12114220/
Abstract

: Several genetic factors are related to the risk of Alzheimer's disease (AD) and the response to cholinesterase inhibitors (ChEIs) (donepezil, galantamine, and rivastigmine) or memantine. However, findings have been controversial, and, to the best of our knowledge, admixed populations have not been previously evaluated. We aimed to determine the impact of genetic and non-genetic factors on the risk of AD and the short-term response to ChEIs and memantine in patients with AD from Mexico. : This study included 117 patients from two specialty hospitals in Mexico City, Mexico. We evaluated cognitive performance via clinical evaluations and neuropsychological tests. Nineteen variants in , , , , , , , , , and were assessed through TaqMan assays or PCR. : Minor alleles of the rs1045642, rs17884589, and rs2177370 and rs3793790 variants were associated with the risk of AD; meanwhile, rs6494223 and rs776746 were identified as low-risk variants in AD. rs1803274 was associated with worse cognitive functioning. None of the genetic and non-genetic factors studied were associated with the response to pharmacological treatment. : We identified potential genetic variants related to the risk of AD; meanwhile, no factor was observed to impact the response to pharmacological therapy in patients with AD from Mexico.

摘要

几种遗传因素与阿尔茨海默病（AD）的风险以及对胆碱酯酶抑制剂（多奈哌齐、加兰他敏和卡巴拉汀）或美金刚的反应有关。然而，研究结果一直存在争议，据我们所知，之前尚未对混合人群进行评估。我们旨在确定遗传和非遗传因素对来自墨西哥的AD患者患AD风险以及对胆碱酯酶抑制剂和美金刚短期反应的影响。

本研究纳入了来自墨西哥城两家专科医院的117名患者。我们通过临床评估和神经心理学测试来评估认知表现。通过TaqMan分析或聚合酶链反应（PCR）对APP、PSEN1、PSEN2、APOE、BIN1、CD2AP、CD33、CLU、CR1和SORL1中的19个变异进行了评估。

APP基因rs1045642、PSEN1基因rs17884589以及APOE基因rs2177370和rs3793790变异的次要等位基因与AD风险相关；同时，APOE基因rs6494223和CLU基因rs776746被确定为AD中的低风险变异。CR1基因rs1803274与较差的认知功能相关。所研究的遗传和非遗传因素均与药物治疗反应无关。

我们确定了与AD风险相关的潜在遗传变异；同时，未观察到任何因素会影响来自墨西哥的AD患者对药物治疗的反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/fc5a3fdc775b/neurolint-17-00065-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/d957f5ddedaa/neurolint-17-00065-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/01fb7a2d41bd/neurolint-17-00065-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/fc5a3fdc775b/neurolint-17-00065-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/d957f5ddedaa/neurolint-17-00065-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/01fb7a2d41bd/neurolint-17-00065-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12114220/fc5a3fdc775b/neurolint-17-00065-g003.jpg

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本文引用的文献

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Front Aging Neurosci. 2022 Oct 10;14:937486. doi: 10.3389/fnagi.2022.937486. eCollection 2022.
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Pharmacogenetics of Donepezil and Memantine in Healthy Subjects.多奈哌齐和美金刚在健康受试者中的药物遗传学
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