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variants
346 studies tagged variants, dated 1992-10-01 to 2026-10-26. Bibliography: BibTeX (.bib) · RIS (.ris)
Newest in this topic
Studies
346 studies carry this tag.
Date range
1992 to 2026
Top journals
- Alzheimer's & dementia : the journal of the Alzheimer's Association 29
- Neurobiology of aging 18
- Journal of Alzheimer's disease : JAD 16
- Molecular psychiatry 12
- medRxiv 11
137 journals in all.
Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.
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52/100
Two ABCA7 missense variants (rs3764647 and rs3752239) demonstrated significant association with AD risk.
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More than 20 genetic loci have been associated with risk for Alzheimer's disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms.
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Collecting cases for case-control genetic association studies can be time-consuming and expensive.
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We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.
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Alzheimer's disease (AD) (MIM: 104300) is a highly heritable disease with great complexity in its genetic contributors, and represents the most common form of dementia.
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Iron deposition in the brain is a prominent feature of Alzheimer's disease (AD).
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Two SNPs at novel loci, rs112404845 (P = 3.8 × 10-8), upstream of COBL, and rs16961023 (P = 4.6 × 10-8), downstream of SLC10A2, obtained genome-wide significant evidence of association with the posterior liability.
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Alzheimer's disease (AD), the most common form of senile dementia, is a genetically complex disorder.
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The aim of this paper is to systematically evaluate a biased sampling issue associated with genome-wide association analysis (GWAS) of imaging phenotypes for most imaging genetic studies, including the Alzheimer's Disease Neuroimaging Initiative (ADNI).
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We demonstrate that using additional phenotype data previously collected by genetic studies to tackle phenotypic heterogeneity in MDD can successfully lead to the discovery of genetic risk factor despite reduced sample size.
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41/100
Genome-wide association studies (GWAS) have traditionally been undertaken in homogeneous populations from the same ancestry group.
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Studies of long-lived individuals have revealed few genetic mechanisms for protection against age-associated disease.
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People's differences in cognitive functions are partly heritable and are associated with important life outcomes.
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The association between PICALM rs3851179 variant and Alzheimer's disease (AD) has been well established by previous genome-wide association studies (GWAS) and candidate gene studies in European population.
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As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD came more or less to a standstill.
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52/100
Variation in human lifespan is 20 to 30% heritable in twins but few genetic variants have been identified.
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We confirm that variation in/near APOE/TOMM40 (P = 6 × 10(-14)) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007).
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The genetics dataset yielded two subtypes of AD characterized mainly by the presence/absence of the apolipoprotein E (APOE) ε4 genotype, but also involving differential presence of risk alleles of CD2AP, SPON1 and LOC39095 SNPs that were associated with differences in the respective patterns of brain atrophy, especially in the precuneus.
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Causes of the well-documented association between low levels of cognitive functioning and many adverse neuropsychiatric outcomes, poorer physical health and earlier death remain unknown.
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Recently, 19 susceptibility loci for Alzheimer's disease (AD) had been identified through AD genome-wide association studies (GWAS) meta-analysis.
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67/100
We developed a new statistical framework to find genetic variants associated with extreme longevity.
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The identification of subjects at high risk for Alzheimer's disease is important for prognosis and early intervention.
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Genome-wide association studies have associated clusterin (CLU) variants with Alzheimer's disease (AD).
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Genome-wide polygenic scores (GPS), which aggregate the effects of thousands of DNA variants from genome-wide association studies (GWAS), have the potential to make genetic predictions for individuals.
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Our data indicated that 18p11.32 (rs1992269, P = 9.77 × 10(-7)), CNTNAP2 (rs802571, P = 1.26 × 10(-6)), and 12q24.23 (rs11613092, P = 6.85 × 10(-6)) were suggestive loci for susceptibility to LOAD.
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55/100
Numerous genetic susceptibility and protective markers for AD and disease biomarkers have been identified and replicated using ADNI data and have heavily implicated immune, mitochondrial, cell cycle/fate, and other biological processes.
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Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity.
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Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD).
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General cognitive function is substantially heritable across the human life course from adolescence to old age.
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The immune response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
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Important methodological advancements in rare variant association testing have been made recently, among them collapsing tests, kernel methods and the variable threshold (VT) technique.
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Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic underpinnings of human disease.
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We identified 1 known pathogenic PSEN1 (p.His163Arg, c.488A>G) mutation and 3 novel PSEN2 mutations in 6 patients.
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We identify common genetic variants associated with cognitive performance using a two-stage approach, which we call the proxy-phenotype method.
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The aims of this study were to identify candidate single nucleotide polymorphisms (SNPs) and mechanisms of Alzheimer's disease (AD) and to generate SNP to gene to pathway hypotheses.
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Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component.
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Large case/control genome-wide association studies (GWAS) often include groups of related individuals with known relationships.
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To extend our understanding of the genetic basis of human immune function and dysfunction, we performed an expression quantitative trait locus (eQTL) study of purified CD4(+) T cells and monocytes, representing adaptive and innate immunity, in a multi-ethnic cohort of 461 healthy individuals.
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Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting a growing interest in the scientific community.
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Mutations of 3 causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early-onset familial Alzheimer's disease (EOFAD).
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Recent studies have reported that a rare nonsynonymous variant rs75932628-T in the TREM2 gene is associated with increased risk of Alzheimer's disease and Parkinson's disease (PD) in European-descended populations.
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Mutations in PSEN1 are the most common cause of autosomal dominant familial Alzheimer's disease (FAD).
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Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD).
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Recent studies have found an association between a variant in triggering receptor expressed on myeloid cells 2 (TREM2) (rs75932628-T) and both Alzheimer's disease (AD) and cognitive function in individuals aged 80-100 years.
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Alzheimer's disease (AD) is a complex disorder influenced by environmental and genetic factors.
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Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD.
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The Dominantly Inherited Alzheimer Network (DIAN) is an international registry of individuals at risk for developing autosomal dominant Alzheimer's disease (AD).
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At present, the etiology of Alzheimer's disease (AD) is still unclear, but both genetic and non-genetic factors are thought to take part in the etiopathogenesis of AD.
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Recently, GWAS of complex diseases and traits have focused less on individual susceptibility variants and instead have emphasized the biological pathways and networks revealed by genetic associations.
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The primary constituents of plaques (Aβ42/Aβ40) and neurofibrillary tangles (tau and phosphorylated forms of tau [ptau]) are the current leading diagnostic and prognostic cerebrospinal fluid (CSF) biomarkers for AD.
From across this tag
10 of the 346 studies in this tag, picked by a fixed rule (a hash of each study's address), not by score or date; each page of this list shows a different 10. The same 10 appear here every time.
- DNA Hypomethylation in Blood Links B3GALT4 and ZADH2 to Alzheimer’s Disease
- Investigating the Genetic Characteristics of Hippocampal Volume and Plasma β-Amyloid in a Chinese Community-Dwelling Population
- TMEM106B is a selective modulator of TDP-43 pathology in Alzheimer's disease
- Genetic architectures of psychiatric disorders: the emerging picture and its implications
- Discovery of sexual dimorphisms in metabolic and genetic biomarkers
- Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals
- Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
- GWAS links APOE to neuropsychiatric symptoms in mild cognitive impairment and dementia
- Shared genes and pathways in dementia: Insights from genome-wide association studies
- Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes