Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE We clinically characterized and whole-exome genotyped 71 individuals with AD from the Paisa genetic isolate, segregating the (PSEN1) E280A dominant fully penetrant mutation, and analyzed the potential recessive effects of ~ 50,000 common functional genomic variants to the ADAOO. 31664702

2020

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. 30769329

2019

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE WITHDRAWN: Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer's Disease. 31381509

2019

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer's Disease Detected Using Quantitative Electroencephalography. 28550254

2017

dbSNP: rs63750306
rs63750306
0.100 GeneticVariation BEFREE The present work acknowledged the novel PSEN1 pathogenic mutation M84V and might contribute to the ongoing debate about the involvement of cerebellum in AD. 28532646

2017

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease. 26949549

2016

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE We assessed underlying electrophysiological modulations in patients with mild cognitive impairment (MCI), patients in the MCI stages of familial AD carrying the mutation E280A of the presenilin-1 gene (MCI-FAD), and healthy controls. 27372640

2016

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Diagnostic accuracy of CERAD total score in a Colombian cohort with mild cognitive impairment and Alzheimer's disease affected by E280A mutation on presenilin-1 gene. 26478578

2016

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE This is the first study demonstrating that the APOE*E2 allele modifies the natural history of AD typified by the age of onset in E280A mutation carriers. 26619808

2016

dbSNP: rs63750306
rs63750306
0.100 GeneticVariation BEFREE The a posteriori diagnosis of AD is supported by the evidence of the causative genetic mutation PSEN1-Met146Leu as well as neuropathological AD features in her genealogically proven descendants. 27730373

2016

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Cross-sectional measures of 18F-florbetapir positron emission tomography, 18F-fludeoxyglucose positron emission tomography, structural magnetic resonance imaging, cerebrospinal fluid (CSF), and plasma biomarkers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years). 25580592

2015

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE The findings support the notion that a deficit in the mechanism responsible for coordinating the performance of two tasks may be a clinical marker for the early detection of AD due to the E280A presenilin-1 gene mutation. 25352452

2015

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE We capitalized on longitudinal data collected from 1995 to 2010 from cognitively unimpaired presenilin 1 (PSEN1) E280A mutation carriers from the world's largest known early-onset autosomal dominant Alzheimer's disease kindred to identify a composite cognitive test with the greatest statistical power to track preclinical Alzheimer's disease decline and estimate the number of carriers age 30 years and older needed to detect a treatment effect in the Alzheimer's Prevention Initiative's (API) preclinical Alzheimer's disease treatment trial. 24816373

2014

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease. 22710270

2013

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study. 23137948

2012

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study. 23137949

2012

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE The findings support the notion that a deficit in the coordination mechanism of the central executive may be a pre-clinical marker for the early detection of AD due to the E280A presenilin-1 gene mutation. 22133015

2012

dbSNP: rs63750306
rs63750306
0.100 GeneticVariation BEFREE In this study, we investigated the effects of long-term (9-month) treatment with pioglitazone (PIO; 20 mg/kg/d) in two animal models of Alzheimer's disease (AD)-related neural dysfunction and pathology: the PS1-KI(M146V) (human presenilin-1 (M146V) knock-in mouse) and 3xTg-AD (triple transgenic mouse carrying AD-linked mutations) mice. 23254291

2012

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease. 21159009

2011

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation. 21435348

2011

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE To identify individuals at risk for Alzheimer disease (AD) we used high-density ERPs to examine brain physiology in young presymptomatic individuals (average age 34.2 years) who carry the E280A mutation in the presenilin-1 (PSEN1) gene and will go on to develop AD around the age of 45. 21775732

2011

dbSNP: rs63750306
rs63750306
0.100 GeneticVariation BEFREE In contrast, all PSEN1 mutations that have been used to accelerate pathological changes in AD models strongly attenuated the Aβ42-lowering activity of GSMs with two exceptions (M146L, A246E). 21091478

2011

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE ERP generator anomalies in presymptomatic carriers of the Alzheimer's disease E280A PS-1 mutation. 19650138

2010

dbSNP: rs63750306
rs63750306
0.100 GeneticVariation BEFREE The impact of celastrol on brain Abeta accumulation was tested in a transgenic mouse model of AD overexpressing the human APP695sw mutation and the presenilin-1 mutation M146L (Tg PS1/APPsw) by immunostaining and ELISAs. 20211007

2010

dbSNP: rs63750306
rs63750306
0.100 GeneticVariation BEFREE To test the hypothesis that calcium-related mechanisms, such as changes in calcium buffering, are associated with alterations in LTP and memory, we utilized in vitro experimental paradigms of LTP in hippocampal slices obtained from the PS1-M146V transgenic mouse model of Alzheimer's disease (AD). 20399254

2010