F Cruz-Sanabria1, K Bonilla-Vargas2, K Estrada3, O Mancera4, E Vega5, E Guerrero5, J Ortega-Rojas5, F Mahecha María5, A Romero6, P Montañés6, V Celeita7, H Arboleda5, R Pardo8. 1. Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Departamento de Psicología, Universidad Nacional de Colombia, Bogotá, Colombia. Electronic address: francycruz17@gmail.com. 2. 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. 3. Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Instituto de Investigaciones Clínicas, Universidad Nacional de Colombia, Bogotá, Colombia. 4. Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Unidad de Neurología, Hospital Universitario Nacional, Bogotá, Colombia. 5. Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia. 6. Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Departamento de Psicología, Universidad Nacional de Colombia, Bogotá, Colombia. 7. Departamento de Psicología, Universidad Nacional de Colombia, Bogotá, Colombia. 8. Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia; Unidad de Neurología, Hospital Universitario Nacional, Bogotá, Colombia; Instituto de Investigaciones Clínicas, Universidad Nacional de Colombia, Bogotá, Colombia.
Abstract
INTRODUCTION: 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. OBJECTIVE: 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. METHODOLOGY: 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. RESULTS: 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. DISCUSSION: 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.
INTRODUCTION: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. OBJECTIVE: 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. METHODOLOGY: 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. RESULTS: 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. DISCUSSION: 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.
Authors: Caitlin S Latimer; Katherine L Lucot; C Dirk Keene; Brenna Cholerton; Thomas J Montine Journal: Annu Rev Pathol Date: 2021-01-24 Impact factor: 23.472
Authors: Selma M Soyal; Markus Kwik; Ognian Kalev; Stefan Lenz; Greta Zara; Peter Strasser; Wolfgang Patsch; Serge Weis Journal: Mol Genet Genomic Med Date: 2020-05-30 Impact factor: 2.183