ArticlePloS one2011
Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- Modeling Alzheimer's Disease: A Review of Gene-Modified and Induced Animal Models, Complex Cell Culture Models, and Computational Modeling.Brain sciences · 2025Review
- Observational
- Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Journal of Alzheimer's disease : JAD · 2018Review
- Novel susceptibility loci for Alzheimer's disease.Future neurology · 2015Article
- Application of next-generation sequencing technologies in Neurology.Annals of translational medicine · 2014Review
- MicroRNAs targeting Nicastrin regulate Aβ production and are affected by target site polymorphisms.Frontiers in molecular neuroscience · 2014Article
- Genome-wide association studies in Alzheimer's disease: a review.Current neurology and neuroscience reports · 2013Review
- Analysis and optimal design for association studies using next-generation sequencing with case-control pools.Genetic epidemiology · 2012Article
- Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus.Neurobiology of aging · 2012Article
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nicastrin is an obligatory component of the γ-secretase; the enzyme complex that leads to the production of Aβ fragments critically central to the pathogenesis of Alzheimer's disease (AD). Analyses of the effects of common variation in this gene on risk for late onset AD have been inconclusive. We investigated the effect of rare variation in the coding regions of the Nicastrin gene in a cohort of AD patients and matched controls using an innovative pooling approach and next generation sequencing. Five SNPs were identified and validated by individual genotyping from 311 cases and 360 controls. Association analysis identified a non-synonymous rare SNP (N417Y) with a statistically higher frequency in cases compared to controls in the Greek population (OR 3.994, CI 1.105-14.439, p = 0.035). This finding warrants further investigation in a larger cohort and adds weight to the hypothesis that rare variation explains some of genetic heritability still to be identified in Alzheimer's disease.
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Registered trials
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