Gene: PSEN1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750391
rs63750391
PSEN1
0.020 GeneticVariation BEFREE Here we describe a new substitution of methionine 146 for isoleucine that co-segregates with Alzheimer's disease with age of the onset in the early forties. 9007311

1996
dbSNP: rs63750590
rs63750590
PSEN1
0.010 GeneticVariation BEFREE We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. 8945747

1996
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles. 9298817

1997
dbSNP: rs765670175
rs765670175
PSEN1
0.060 GeneticVariation BEFREE We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds. 9225696

1997
dbSNP: rs765670175
rs765670175
PSEN1
0.060 GeneticVariation BEFREE Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I). 9334350

1997
dbSNP: rs63750353
rs63750353
PSEN1
0.010 GeneticVariation BEFREE We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds. 9225696

1997
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. 9851443

1998
dbSNP: rs63749805
rs63749805
PSEN1
0.020 GeneticVariation BEFREE The presenilin-1 (PS1) gene mutation (Pro117Leu), recently identified in a Polish family is characterized by the earliest reported onset (from 24-31 years) of Alzheimer disease (AD) and a very short duration of disease (4-6 years). 9737546

1998
dbSNP: rs63751163
rs63751163
PSEN1
0.020 GeneticVariation BEFREE PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent. 9436726

1998
dbSNP: rs63749885
rs63749885
PSEN1
0.010 GeneticVariation BEFREE The large range in age at onset in this family with a uniform genetic basis for the disease, a His163Tyr mutation in PS1, supports the existence of other unknown genetic or environmental factors of importance for the expression of the AD phenotype. 9605727

1998
dbSNP: rs63750050
rs63750050
PSEN1
0.010 GeneticVariation BEFREE Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. 9502232

1998
dbSNP: rs765670175
rs765670175
PSEN1
0.060 GeneticVariation BEFREE BrdU labeling was decreased in cells expressing presenilin-1 (PS1), presenilin-2 (PS2), an Alzheimer's disease-associated missense mutation PS2(N141I), and the carboxyl-terminally deleted PS2 construct PS2(166aa), compared with mock and neurofilament-light (NF-L) transfected cells. 10393846

1999
dbSNP: rs63750004
rs63750004
PSEN1
0.030 GeneticVariation BEFREE Both families segregate a different missense mutation in PSEN1 located in different parts of the protein: I143T in family AD/A and G384A in family AD/B. 10448055

1999
dbSNP: rs63750004
rs63750004
PSEN1
0.030 GeneticVariation BEFREE Presenilin-1 (PSEN1) mutations I143T and G384A give rise to severe early onset Alzheimers's disease in two extensively studied Belgian families, AD/A and AD/B. 10548420

1999
dbSNP: rs63750646
rs63750646
PSEN1
0.020 GeneticVariation BEFREE Presenilin-1 (PSEN1) mutations I143T and G384A give rise to severe early onset Alzheimers's disease in two extensively studied Belgian families, AD/A and AD/B. 10548420

1999
dbSNP: rs63750646
rs63750646
PSEN1
0.020 GeneticVariation BEFREE Both families segregate a different missense mutation in PSEN1 located in different parts of the protein: I143T in family AD/A and G384A in family AD/B. 10448055

1999
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease? 10643802

2000
dbSNP: rs63750526
rs63750526
PSEN1
0.070 GeneticVariation BEFREE To test whether oxidative stress is an inherent property of AD tissues, the ability of cultured fibroblasts bearing the AD Presenilin-1 246 Ala-->Glu mutation to handle reactive oxygen species (ROS) was compared to controls. 11068175

2000
dbSNP: rs63751163
rs63751163
PSEN1
0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000
dbSNP: rs63750311
rs63750311
PSEN1
0.010 GeneticVariation BEFREE Postmortem examination of one patient with N405S showed limited cerebral amyloid angiopathy, whereas postmortem examination of another Japanese patient with Alzheimer's disease with the E184D mutation disclosed severe cerebral amyloid angiopathy. 10644793

2000
dbSNP: rs63751141
rs63751141
PSEN1
0.010 GeneticVariation BEFREE This analysis revealed that PS1 C92S increased Abeta42 levels in a similar fashion to other pathogenic Alzheimer's disease (AD) PS1 mutations. 11027672

2000
dbSNP: rs63751254
rs63751254
PSEN1
0.010 GeneticVariation BEFREE The N405S mutation of PS1 is a major determinant of cortical Abeta deposition but not cerebral amyloid angiopathy in Alzheimer's disease. 10644793

2000
dbSNP: rs63750306
rs63750306
PSEN1
0.100 GeneticVariation BEFREE We examined the brains of 12-month-old singly and doubly transgenic mice overexpressing mutant amyloid precursor protein (APP(swe)) and/or presenilin-1 (PS1(M146L)) to investigate the effects of these AD-related genes on plaque and tangle pathology, astrocytic expression, and the CBF projection system. 11476589

2001
dbSNP: rs63750306
rs63750306
PSEN1
0.100 GeneticVariation BEFREE To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines. 11311782

2001
dbSNP: rs63750082
rs63750082
PSEN1
0.030 GeneticVariation BEFREE The Gly206Ala mutation was found in 8 of 19 unrelated Caribbean Hispanic families with early-onset familial AD. 11710891

2001