An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid β protein deposited in Alzheimer's disease
Section snippets
Acknowledgements
We wish to thank Mr. T. Jike for technical assistance, Mrs. M. Barringer for preparation of the manuscript and Mr. D. Houghton for statistical advice. The study was supported in part by a grant from the Wellcome Trust (to A.E.W.).
References (24)
- et al.
Visualization of Aβ42(43)-positive and Aβ40-positive senile plaques with end-specific Aβ monclonal antibodies: evidence that an initially deposited species is Aβ1–42(43)
Neuron
(1994) - et al.
Owen, M.J. and UK Alzheimer's Disease Collaborative Group, Presenilin-1 polymorphism and Alzheimer's disease
Lancet
(1996) - et al.
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease
Neurodegeneration
(1996) - et al.
Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation
Lancet
(1996) - et al.
Amino- and carboxyl-terminal heterogeneity of β-amyloid peptides deposited in human brain
Neurosci. Lett.
(1996) - et al.
Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease
Lancet
(1995) - et al.
Missense mutation of S182 gene in Japanese familial Alzheimer's disease
Lancet
(1995) - et al.
Apolipoprotein E genotyping by one-stage PCR
Lancet
(1991) - et al.
Genetic association between an intronic polymorphism in the presenilin-1 gene and late onset Alzheimer's disease
Lancet
(1996) - et al.
Mutation analysis of presenilin 1 gene in Alzheimer's disease
Lancet
(1996)
Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease
Hum. Mol. Genet.
Cited by (14)
PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients
2009, Neurobiology of AgingCitation Excerpt :Nevertheless, the potential importance of the rs165932 locus should not be ignored. The polymorphism lies in the same intron as a pathogenic mutation in FAD that destroys a splice acceptor site and leads to an abnormal splicing pattern in PSEN1 mRNA resulting in the loss of the exon 9 encoded region (Mann et al., 1997). Splicing of exon 9 could cause considerable changes to the structure of the TM6-TM7 loop stretching from intron 8 to exon 12 of the PS1 protein (Rogaev et al., 1997) and could lead to altered PS1 processing.
Association study and meta-analysis of Alzheimer's disease risk and presenilin-1 intronic polymorphism
2007, Brain ResearchCitation Excerpt :Initial studies on the possible relationship between the 1/1 genotype in the PS-1 gene (PubMed reference rs165932), located at intron 8, and late onset Alzheimer's disease (LOAD) started more than 10 years ago (Wragg et al., 1996; Hutton and Hardy, 1997). Later, clinical (Kehoe et al., 1996; Higuchi et al., 1996; Perez-Tur et al., 1996; Isoe et al., 1996; Tysoe et al., 1997; Ezquerra et al., 1997; Brookes et al., 1997; Korovaitseva et al., 1997; Scott et al., 1997; Lendon et al., 1997; Sorbi et al., 1997; Cai et al., 1997; Nishiwaki et al., 1997; Aldudo et al., 1997; Helisalmi et al., 1997; Singleton et al., 1997; Mann et al., 1997; Hu et al., 1998; Kowalska et al., 1998; Taddei et al., 1998; Wang et al., 1998; Scacchi et al., 1999; Wu et al., 1999; Yasuda et al., 1999; Bagli et al., 1999; Van Duijn et al., 1999; Combarros et al., 1999; Romas et al., 2000; Kim et al., 2000; Cui et al., 2000; Rodriguez-Martin et al., 2000; Papassotiropoulos et al., 2000; Dermaut et al., 2001; Chandak et al., 2002; Matsubara-Tsutsui et al., 2002; Jia et al., 2006) and anatomopathological (Yamada et al., 1997; Singleton et al., 1997; Mann et al., 1997; Sodeyama et al., 1998; Liao et al., 1999; Tilley et al., 1999; Yamada, 2002; Jia et al., 2006) studies were not able to confirm these results, and some authors have described histological changes related with intronic polymorphisms (De Jonghe et al., 1999), while others found no such relationship (Liao et al., 1999). Several meta-analyses have been published on the PS-1 1/1 genotype (Yasuda et al., 1999; Dermaut et al., 2001) or allelic frequency (http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=84), analyzing both early (EOAD) and late (LOAD) onset Alzheimer's disease, although a significant relationship was only found for LOAD (Yasuda et al., 1999).
Causative and susceptibility genes for Alzheimer's disease: A review
2003, Brain Research BulletinCurrent status of Alzheimer's disease in India: Prevalence, stigma, and myths
2021, Smart Healthcare Monitoring Using IoT with 5G: Challenges, Directions, and Future Predictions