Cruz-Sanabria F, Bonilla-Vargas K, Estrada K, Mancera O, Vega E, Guerrero E, Ortega-Rojas J, Mahecha María F, Romero A, Montañés P, Celeita V, Arboleda H, Pardo R
Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Departamento de Psicología, Universidad Nacional de Colombia, Bogotá, Colombia.
Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Departamento de Psicología, Universidad Nacional de Colombia, Bogotá, Colombia; Unidad de Neurología, Hospital Universitario Nacional, Bogotá, Colombia.
Neurologia (Engl Ed). 2018 Nov 30. doi: 10.1016/j.nrl.2018.07.002.
Alzheimer disease risk polymorphisms have been studied in patients with dementia, but have not yet been explored in mild cognitive impairment (MCI) in our population; nor have they been addressed in relation to cognitive variables, which can be predictive biomarkers of disease.
To evaluate cognitive performance and presence of polymorphisms of the genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE (isoforms ɛ2, ɛ3, ɛ4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN1(rs744373), and CLU (rs227959 and rs11136000) in patients with MCI and healthy individuals.
We performed a cross-sectional, exploratory, descriptive study of a prospective cohort of participants selected by non-probabilistic sampling, evaluated with neurological, neuropsychological, and genetic testing, and classified as cognitively healthy individuals and patients with MCI. Cognition was evaluated with the Neuronorma battery and analysed in relation to the polymorphic variants by means of measures of central tendency, confidence intervals, and nonparametric statistics.
We found differences in performance in language and memory tasks between carriers and non-carriers of BIN1, CLU, and CR1 variants and a trend toward poor cognitive performance for PICALM, GWAS_14q, SORL1, and PVRL2 variants; the APOE and TOMM40 variants were not associated with poor cognitive performance.
Differences in cognitive performance associated with these polymorphic variants may suggest that the mechanisms regulating these genes could have an effect on cognition in the absence of dementia; however, this study was exploratory and hypotheses based on these results must be explored in larger samples.
阿尔茨海默病风险多态性已在痴呆患者中进行了研究，但在我国人群的轻度认知障碍（MCI）中尚未进行探索；它们也未与认知变量相关联，而认知变量可能是疾病的预测生物标志物。
评估MCI患者和健康个体中SORL1（rs11218304）、PVRL2（rs6859）、CR1（rs6656401）、TOMM40（rs2075650）、APOE（异构体ɛ2、ɛ3、ɛ4）、PICALM（rs3851179）、GWAS_14q（rs11622883）、BIN1（rs744373）和CLU（rs227959和rs11136000）基因的认知表现和多态性的存在情况。
我们对通过非概率抽样选择的前瞻性队列参与者进行了一项横断面、探索性、描述性研究，通过神经学、神经心理学和基因检测进行评估，并分为认知健康个体和MCI患者。使用Neuronorma测试组评估认知，并通过集中趋势测量、置信区间和非参数统计分析与多态性变体的关系。
我们发现BIN1、CLU和CR1变体的携带者和非携带者在语言和记忆任务表现上存在差异，PICALM、GWAS_14q、SORL1和PVRL2变体有认知表现不佳的趋势；APOE和TOMM40变体与认知表现不佳无关。
与这些多态性变体相关的认知表现差异可能表明，在没有痴呆的情况下，调节这些基因的机制可能对认知有影响；然而，本研究是探索性的，基于这些结果的假设必须在更大的样本中进行探索。
