Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls

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 ε2, ε3, ε4), 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 towards 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. Resumen: Introducción: Los polimorfismos de riesgo para el desarrollo de enfermedad de Alzheimer se han estudiado en pacientes con demencia, pero aún no se han explorado en trastorno neurocognitivo leve (TNL) en nuestra población, ni se han considerado en relación con variables cognitivas, las cuales pueden ser biomarcadores predictivos de enfermedad. Objetivo: Evaluar los desempeños cognitivos y los polimorfismos en los genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE(isoformas ε2, ε3, ε4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN(rs744373), CLU (rs227959 y rs11136000) en pacientes con TNL y en sujetos sanos. Metodología: Estudio descriptivo, exploratorio y transversal, en una cohorte prospectiva de participantes seleccionados mediante muestreo no probabilístico, evaluados por neurología, neuropsicología y genética, y clasificados como cognitivamente sanos y pacientes con TNL, según criterios. La cognición se evaluó por medio de la batería Neuronorma y se analizó en relación con las variantes polimórficas por medio de medidas de tendencia, intervalos de confianza y estadísticos no paramétricos. Resultados: Se identificaron diferencias en los desempeños en tareas de lenguaje y memoria en relación con las variantes de BIN1, CLU y CR1, junto con tendencias en las variantes de PICALM, GWArs, SORL y PVRL2, mientras que en APOE y TOMM40 no se encontraron tendencias. Discusión: Las tendencias en los desempeños cognitivos en relación con variantes polimórficas podrían indicar que, en ausencia de demencia, los mecanismos que regulan estos genes podrían tener un efecto sobre la cognición; sin embargo, esta aproximación tiene un carácter exploratorio y sus resultados permiten generar hipótesis que requieren ser exploradas en muestras de mayor tamaño

XVII International Congress of Control Electronics and Telecommunications: "Advanced Science, Technology and Innovation to move towards a new socio-technical system: Sustainable Social Transformation"

Contenido: Approach to the diagnostic of cesarean birth using bio-inspired models. ; Design of a tool in a virtual reality environment to manipulate anatomical models. ; The effect of COVID-19 restrictions on the electricity price forecasting models. ; Depression prevention through artificial intelligence. ; State of the art in Prototypes as complements to the learning of the Colombian Sign Language (LSC). ; A computational proposal for gene expression deterministic analysis in associated disorders to depression and anxiety. ; Evaluation of postural stability from the predictability of the measurement of the center of pressure. ; Psychophysiological Analysis of Sound Stimuli.; Delphi method for the identification of relevant variables in the development of low-power photovoltaic solar projects. ; Socioeconomic impact of a refrigerator powered by a photovoltaic system in La Guajira. ; Energy Efficiency: characteristics that allow the reduction of greenhouse gases in. ; Possibilities for the implementation of a bioreactor from organic waste. ; Energy Potential with Small Hydroelectric Power Plants in Non- interconnected Zones of Colombia. ; Energy Potential in Photovoltaic Solar Solutions in Non-Interconnected Areas of Colombia. ; Photovoltaic system, towards the energy transition from home. ; Blockchain model to increase the transparency of public sector processes. ; Intelligent agricultural irrigation prescription system based on sensor networks and crop modeling. ; Design and implementation of a digital modulation classification system using intelligent algorithms. ; A mobile application proposal to minimize intermediation during agricultural process distribution of products in supply chain. ; Accompanying strategy for the social appropriation of new technologies in vulnerable agricultural communities: case in communities producing Gulupas fruits (Passiflora edulis Sims). ; Predictive model of transparency as an indicator of Public Policies. ; Smart system for recognition of ripening level in blackberry fruits. ; Project-based learning as an alternative methodology for technological education in electronics. ; Design and construction of an automated system for N. ; Four bar mechanisms (FBM) and their Software-Based applications: a reviewFT aquaponic culture of Red Carp and Crespa Lettuce. ; Intelligent search implementation for the construction of states of the art: a python application. ; Indoor and Outdoor propagation models on 5G environments: state of the art. ;The electronic detection of offenders (DOO) in the District Secretary of mobility of Bogotá: a step forward in the configuration of the concept of digital citizenship in Colombia. ; Monitoring through ICT of Mobility: technological collaborative feature to incorporate IoT in a Smart City. ; Characterization model of asphalt mixtures using digital image processing. ; Review: identification of diseases and/or pests in fruit trees through image processing techniques and artificial intelligence. ; VRS applicated to Nasa Yuwe language. ; Application of Pix2Pix for edge reconstruction in images. ; Brushless DC Motor Control System for Active Myoelectric Prosthesis. ; Implementation of a Water Conductivity Measuring System. ; 2 DOF robot programmed with MatLab® (guide and Peter Corke) and Arduino uno for writing alphabetical characters. ; Simulator of the behavior of the center of mass in a quadruped robot. ; Biomimetic prototype for flapping movement of batsContent: Contenido: Approach to the diagnostic of cesarean birth using bio-inspired models. ; Design of a tool in a virtual reality environment to manipulate anatomical models. ; The effect of COVID-19 restrictions on the electricity price forecasting models. ; Depression prevention through artificial intelligence. ; State of the art in Prototypes as complements to the learning of the Colombian Sign Language (LSC). ; A computational proposal for gene expression deterministic analysis in associated disorders to depression and anxiety. ; Evaluation of postural stability from the predictability of the measurement of the center of pressure. ; Psychophysiological Analysis of Sound Stimuli.; Delphi method for the identification of relevant variables in the development of low-power photovoltaic solar projects. ; Socioeconomic impact of a refrigerator powered by a photovoltaic system in La Guajira. ; Energy Efficiency: characteristics that allow the reduction of greenhouse gases in. ; Possibilities for the implementation of a bioreactor from organic waste. ; Energy Potential with Small Hydroelectric Power Plants in Non- interconnected Zones of Colombia. ; Energy Potential in Photovoltaic Solar Solutions in Non-Interconnected Areas of Colombia. ; Photovoltaic system, towards the energy transition from home. ; Blockchain model to increase the transparency of public sector processes. ; Intelligent agricultural irrigation prescription system based on sensor networks and crop modeling. ; Design and implementation of a digital modulation classification system using intelligent algorithms. ; A mobile application proposal to minimize intermediation during agricultural process distribution of products in supply chain. ; Accompanying strategy for the social appropriation of new technologies in vulnerable agricultural communities: case in communities producing Gulupas fruits (Passiflora edulis Sims). ; Predictive model of transparency as an indicator of Public Policies. ; Smart system for recognition of ripening level in blackberry fruits. ; Project-based learning as an alternative methodology for technological education in electronics. ; Design and construction of an automated system for N. ; Four bar mechanisms (FBM) and their Software-Based applications: a reviewFT aquaponic culture of Red Carp and Crespa Lettuce. ; Intelligent search implementation for the construction of states of the art: a python application. ; Indoor and Outdoor propagation models on 5G environments: state of the art. ;The electronic detection of offenders (DOO) in the District Secretary of mobility of Bogotá: a step forward in the configuration of the concept of digital citizenship in Colombia. ; Monitoring through ICT of Mobility: technological collaborative feature to incorporate IoT in a Smart City. ; Characterization model of asphalt mixtures using digital image processing. ; Review: identification of diseases and/or pests in fruit trees through image processing techniques and artificial intelligence. ; VRS applicated to Nasa Yuwe language. ; Application of Pix2Pix for edge reconstruction in images. ; Brushless DC Motor Control System for Active Myoelectric Prosthesis. ; Implementation of a Water Conductivity Measuring System. ; 2 DOF robot programmed with MatLab® (guide and Peter Corke) and Arduino uno for writing alphabetical characters. ; Simulator of the behavior of the center of mass in a quadruped robot. ; Biomimetic prototype for flapping movement of bat