rs17125721, PSEN1

N. diseases: 14
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
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
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE The E318G variant was detected with similar frequencies in the cases with eoAD and FTLD and the healthy controls, therefore, showing no association between E318G and eoAD. 21959359 2013
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V. 18525293 2008
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases. 15119739 2004
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD. 10896268 2000
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE We describe a large Italian family, which we followed from January 2003 to January 2018, with the late-onset AD and the E318G variant, with the aim of assessing E318G-associated CSF or plasma biochemical changes in biomarkers of dementia. 30381075 2019
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE Additionally, we found that in the presence of at least one APOE-ε4 allele, p.E318G is associated with more Aβ plaques and faster cognitive decline. 23990795 2013
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.020 GeneticVariation BEFREE Additionally, we found that in the presence of at least one APOE-ε4 allele, p.E318G is associated with more Aβ plaques and faster cognitive decline. 23990795 2013
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE Two patients with presenile dementia and personality change were found to carry the PSEN1 Glu318Gly polymorphism. 16216949 2005
Familial Alzheimer's disease of early onset
0.020 GeneticVariation BEFREE It could be concluded that E318G mutation is not related causally to AD in the Polish population, either as a risk factor or a disease causing mutation. 15003276 2004
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life. 11755019 2002
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.020 GeneticVariation BEFREE Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life. 11755019 2002