4 documents found, page 1 of 1
Genetic associations between modifiable risk factors and Alzheimer disease
Luo, Jiao; Thomassen, Jesper Qvist; Bellenguez, Céline; Grenier-Boley, Benjamin; de Rojas, Itziar; Castillo, Atahualpa; Parveen, KayenatImportance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire n...
Association of rare APOE missense variants V236E and R251G with risk of Alzheim...
Le Guen, Yann; Belloy, Michael E.; Grenier-Boley, Benjamin; de Rojas, Itziar; Castillo-Morales, Atahualpa; Jansen, Iris; Nicolas, AudeImportance: The APOE ε2 and APOE ε4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD). However, the mechanisms linking APOE to AD-particularly the apoE protein's role in AD pathogenesis and how this is affected by APOE variants-remain poorly understood. Identifying missense variants in addition to APOE ε2 and APOE ε4 could provide crit...
Common variants in Alzheimer's disease and risk stratification by polygenic ris...
de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin; Andrade, Victor; Jansen, Iris E.; Pedersen, Nancy L.; Stringa, NajadaGenetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Her...
Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, Rita João; Baquero, Miquel; Blesa, Rafael; Boada, Mercè; Brás, José Miguel; Bullido, Maria. J.; Calado, Ana; Crook, Richard; Ferreira, CarlaMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found t...