rs17125721, PSEN1

N. diseases: 14
Disease: Familial Alzheimer Disease (FAD) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.050 GeneticVariation BEFREE Prediction results, together with previous reports, suggest a correlation between rs17125721 and AD. 28554858 2017
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.050 GeneticVariation BEFREE In the present study, we investigated the influence of nine presenilin 1 (PS1) mutations (P117R, M139V, L153V, H163R, S170F, F177L, I213F, L226F, E318G) on CC and Aβ production in immortalized B-lymphocytes from familial AD (FAD) patients and in stably transfected human embryonic kidney cells. 22810102 2012
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.050 GeneticVariation BEFREE We found a significant association (p<0.05, Fisher's exact test) between the presence of PSEN-1 [E318G] and FAD. 16952411 2007
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.050 GeneticVariation BEFREE These findings show that the frequency of the Glu318Gly mutation is increased in FAD patients, suggesting a potential role as a genetic risk factor contributing to the pathogenesis of familial AD. 12192622 2002
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.050 GeneticVariation BEFREE We detected the E318G mutation in four FAD cases, seven sporadic AD cases and 10 control individuals with highly varying onset-ages. 10643802 2000