rs17125721, PSEN1

N. diseases: 14
Disease: Alzheimer's Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE Our follow-up of this family may help elucidate E318G's role in AD and globally points to a null effect of this variant. 30381075 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE A meta-analysis was performed to assess PSEN1 gene polymorphisms (rs1800839 and rs17125721) in Alzheimer's disease (AD) risk. 28821390 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE Analyses in additional case-control datasets will be required to understand fully the effect of E318G on Alzheimer's disease status. 27357204 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. 23990795 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The E318G mutation has not an assessed pathogenic function, but some data have highlighted a role as a risk factor for AD in a predisposed familiar background. 18525293 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort. 15003276 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease. 11755019 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease? 10643802 2000
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. 9851443 1998