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Your search keyword '"Arboleda-Velasquez JF"' showing total 2 results
Start Over Author "Arboleda-Velasquez JF" Publisher nature pub. group
2 results on '"Arboleda-Velasquez JF"'

1. Effect of apolipoprotein genotype and educational attainment on cognitive function in autosomal dominant Alzheimer's disease.

Author

Langella S, Barksdale NG, Vasquez D, Aguillon D, Chen Y, Su Y, Acosta-Baena N, Acosta-Uribe J, Baena AY, Garcia-Ospina G, Giraldo-Chica M, Tirado V, Muñoz C, Ríos-Romenets S, Guzman-Martínez C, Oliveira G, Yang HS, Vila-Castelar C, Pruzin JJ, Ghisays V, Arboleda-Velasquez JF, Kosik KS, Reiman EM, Lopera F, and Quiroz YT

Subjects
Humans, Apolipoproteins, Apolipoproteins E genetics, Cognition, Educational Status, Genotype, Alzheimer Disease genetics
Abstract

Autosomal dominant Alzheimer's disease (ADAD) is genetically determined, but variability in age of symptom onset suggests additional factors may influence cognitive trajectories. Although apolipoprotein E (APOE) genotype and educational attainment both influence dementia onset in sporadic AD, evidence for these effects in ADAD is limited. To investigate the effects of APOE and educational attainment on age-related cognitive trajectories in ADAD, we analyzed data from 675 Presenilin-1 E280A mutation carriers and 594 non-carriers. Here we show that age-related cognitive decline is accelerated in ADAD mutation carriers who also have an APOE e4 allele compared to those who do not and delayed in mutation carriers who also have an APOE e2 allele compared to those who do not. Educational attainment is protective and moderates the effect of APOE on cognition. Despite ADAD mutation carriers being genetically determined to develop dementia, age-related cognitive decline may be influenced by other genetic and environmental factors., (© 2023. Springer Nature Limited.)

Published
2023
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2. Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.

Author

Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Chen Y, Su Y, Myers AJ, Hardy J, Paul Vonsattel J, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Keene CD, Kamboh MI, Kofler JK, Duque L, Gilbert JR, Gwirtsman HE, Buxbaum JD, Dickson DW, Frosch MP, Ghetti BF, Lunetta KL, Wang LS, Hyman BT, Kukull WA, Foroud T, Haines JL, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Farrer LA, Schellenberg GD, Beecham GW, Montine TJ, and Jun GR

Subjects
Aged, Aged, 80 and over, Alleles, Alzheimer Disease metabolism, Apolipoprotein E2 metabolism, Apolipoprotein E3 genetics, Apolipoprotein E4 genetics, Brain metabolism, Female, Genetic Association Studies, Genotype, Humans, Male, Middle Aged, Neuropathology, Probability, Alzheimer Disease genetics, Apolipoprotein E2 genetics, Genetic Predisposition to Disease genetics, Homozygote
Abstract

Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer's dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer's dementia cases and controls. APOE2/2 was associated with a low Alzheimer's dementia odds ratios compared to APOE2/3 and 3/3, and an exceptionally low odds ratio compared to APOE4/4, and the impact of APOE2 and APOE4 gene dose was significantly greater in the neuropathologically confirmed group than in more than 24,000 neuropathologically unconfirmed cases and controls. Finding and targeting the factors by which APOE and its variants influence Alzheimer's disease could have a major impact on the understanding, treatment and prevention of the disease.

Published
2020
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