RT Journal Article
T1 The Genetic Research in Alzheimer Disease (GERALD) Initiative Finds rs9320913 as a Neural eQTL of lincRNA AL589740.1
A1 Lopez-Gutierrez, Lidia
A1 García-Alberca, José María
A1 Mendoza, Silvia
A1 Gris, Esther
A1 De la Guía, María Paz
A1 Marin-Carmona, José Manuel
A1 Alarcón-Martín, Emilio
A1 Lobato, Almudena
A1 Cruz-Gamero, Jose Manuel
A1 Cura, Laura
A1 Ocejo, Olga
A1 Torrecilla, Javier
A1 Nieto, María Dolores
A1 Urbano, Concepción
A1 Pareja, Nuria
A1 Luque, Macarena
A1 García-Peralta, María
A1 Carrillejo, Rosario
A1 Royo-Sánchez-Palencia, José Luis
K1 Alzheimer, Enfermedad de
AB Alzheimer’s disease is the most common cause of dementia worldwide, and longitudinal studies are crucial to find the factors affecting disease development. Here, we describe a novel initiative from southern Spain designed to contribute in the identification of the genetic component of the cognitive decline of Alzheimer’s disease patients. The germline variant rs9320913 is a C>A substitution mapping within a gene desert. Although it has been previously associated to a higher educational achievement and increased fluid intelligence, its role on Alzheimer’s disease risk and progression remains elusive. A total of 407 subjects were included in the study, comprising 153 Alzheimer disease patients and 254 healthy controls. We have explored the rs9320913 contribution to both Alzheimer disease risk and progression according to the Mini-Mental State Exams. We found that rs9320913 maps within a central nervous system lincRNA AL589740.1. eQTL results show that rs9320913 correlated with the brain-frontal cortex (beta = −0.15, p value = 0.057) and brain-spinal cord (beta of -0.23, p value = 0.037). We did not find rs9320913 to be associated to AD risk, although AA patients seemed to exhibit a less pronounced Mini-Mental State Exam score decline.
PB Wiley Online Library
YR 2021
FD 2021
LK https://hdl.handle.net/10630/37493
UL https://hdl.handle.net/10630/37493
LA eng
NO Lopez-Gutierrez, Lidia, García-Alberca, José María, Mendoza, Silvia, Gris, Esther, De la Guía, María Paz, Marin-Carmona, José Manuel, Alarcón-Martín, Emilio, Lobato, Almudena, Cruz-Gamero, Jose Manuel, Cura, Laura, Ocejo, Olga, Torrecilla, Javier, Nieto, María Dolores, Urbano, Concepción, Pareja, Nuria, Luque, Macarena, García-Peralta, María, Carrillejo, Rosario, Royo, José Luis, The Genetic Research in Alzheimer Disease (GERALD) Initiative Finds rs9320913 as a Neural eQTL of lincRNA AL589740.1, International Journal of Alzheimer’s Disease, 2021, 3064224, 7 pages, 2021. https://doi.org/10.1155/2021/3064224
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 19 ene 2026