Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
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Acknowledgements
The authors thank Ms. Marjo Heikkinen and Ms. Leila Antikainen for their skilful technical help. The study was supported by a grant from the Health Research Council of the Academy of Finland and EVO grant 5032 of Kuopio University Hospital.
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Cited by (27)
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort
2023, Neurobiology of AgingCitation Excerpt :In the CAC, only the PSEN1 p.Glu318Gly variant was present in 2 AD patients and in 2 controls (Table 2). In some populations, the possibility was raised that the PSEN1 p.Glu318Gly variant was a risk factor associated with familial AD (Albani et al., 2007; Benitez et al., 2013; Helisalmi et al., 2000; Taddei et al., 2002); however, these findings were not verified in other populations (Dermaut et al., 1999; Hippen et al., 2016; Jin et al., 2012; Mattila et al., 1998; Zekanowski et al., 2004). The p.Glu318Gly variant, located on exon 9 of PSEN1, is not evolutionary conserved and is predicted to be benign for the protein's function, according to Polyphen2.
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients
2018, Neurobiology of AgingPSEN1 gene polymorphisms in Caucasian Alzheimer's disease: A meta-analysis
2017, Clinica Chimica ActaCitation Excerpt :A total of 685 human genetic studies of Alzheimer's disease were retrieved through literature mining from various databases. Further, the studies were assessed based on quality scores (HWE and NOS scale) to select fourteen [6,7,10,11,23–31] studies which comprise of 3004 AD patients and 3755 controls for this meta-analysis. Among 14 studies, eight studies were associated rs1800839, seven studies belonged to rs17125721 polymorphism and two of the studies were commonly associated with both the SNPs.
Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil
2017, Neuroscience LettersCitation Excerpt :Furthermore, its identification in healthy controls and the lack of segregation with AD turned its classification into a rare nonpathogenic variant [22]. Nevertheless, case-control studies concerning the relation of rs17125721 with AD indicated it as a risk factor for familial AD [22–25]. In a study uncovering low frequency variants on AD risk, Benitez and colleagues [23] recently demonstrated that rs17125721 is strongly associated with high tau and phosphorylated tau levels in cerebrospinal fluid (CSF), as well as Aβ42 deposition, in an APOE-ε4 dependent manner.
No replication of genetic association between candidate polymorphisms and Alzheimer's disease
2011, Neurobiology of AgingPresenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population
2007, Neurobiology of AgingCitation Excerpt :The PSEN-1 [E318G] mutation was also reported in healthy old subjects, and did not increase Aβ(1–42) generation in cellular models [11]. The possibility that the PSEN-1 [E318G] mutation was a risk factor for AD has been explored by different authors [1,2,21,33] and, apart from some conflicting data in the Finnish population [18,24], no positive correlation has come to light. However, all these studies mainly analyzed SAD cases.