ReviewFrontiers in genetics2014
Identification of rare variants in Alzheimer's disease.
Review in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Dissecting Complex and Multifactorial Nature of Alzheimer's Disease Pathogenesis: a Clinical, Genomic, and Systems Biology Perspective.Molecular neurobiology · 2016Pooled it
- Synaptic aging and neurodegeneration: the role of synaptic vesicle dynamics and neurotransmitter imbalance.Biogerontology · 2026Review
- Predictive Analysis of Brain-Derived Neurotrophic Factor and Apolipoprotein E SNPs in Alzheimer's Pathogenesis.BioMed research international · 2026Article
- Genomic Perspective on Heterogeneity of Organs and Body Aging.Aging cell · 2026Review
- Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.Scientific reports · 2023Article
- Neuroinflammation in Alzheimer's Disease.Biomedicines · 2021Review
- Genetic architecture of Alzheimer's disease.Neurobiology of disease · 2020Review
- Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.International journal of molecular sciences · 2019Article
- Benefits and Challenges of Rare Genetic Variation in Alzheimer's Disease.Current genetic medicine reports · 2019Article
- Centenarian controls increase variant effect sizes by an average twofold in an extreme case-extreme control analysis of Alzheimer's disease.European journal of human genetics : EJHG · 2019Article
- Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes.Frontiers in neuroscience · 2019Article
- Review
- Molecular Genetics of Neurodegenerative Dementias.Cold Spring Harbor perspectives in biology · 2017Review
- Induced pluripotent stem cell technology: a decade of progress.Nature reviews. Drug discovery · 2017Review
- Pathophysiologic relationship between Alzheimer's disease, cerebrovascular disease, and cardiovascular risk: A review and synthesis.Alzheimer's & dementia (Amsterdam, Netherlands) · 2017Review
- Article
- New Genetic Approaches to AD: Lessons from APOE-TOMM40 Phylogenetics.Current neurology and neuroscience reports · 2016Review
- How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative.Cold Spring Harbor perspectives in medicine · 2016Review
- Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.Genes, brain, and behavior · 2015Article
- Associating rare genetic variants with human diseases.Frontiers in genetics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Much progress has been made in recent years in identifying genes involved in the risk of developing Alzheimer's disease (AD), the most common form of dementia. Yet despite the identification of over 20 disease associated loci, mainly through genome wide association studies (GWAS), a large proportion of the genetic component of the disorder remains unexplained. Recent evidence from the AD field, as with other complex diseases, suggests a large proportion of this "missing heritability" may be due to rare variants of moderate to large effect size, but the methodologies to detect such variants are still in their infancy. The latest studies in the field have been focused on the identification of coding variation associated with AD risk, through whole-exome or whole-genome sequencing. Such variants are expected to have larger effect sizes than GWAS loci, and are easier to functionally characterize, and develop cellular and animal models for. This review explores the issues involved in detecting rare variant associations in the context of AD, highlighting some successful approaches utilized to date.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.