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loci
346 studies tagged loci, 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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Polygenic risk scores (PRSs) have improved substantially in predictive performance, yet results remain difficult to compare across studies that differ in cohorts, phenotype definitions, and evaluation procedures.
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Across all cases, the SNCA association was indexed by a 5′ signal previously associated with dementia with Lewy bodies and rapid eye movement sleep behaviour disorder, rather than the canonical 3′ Parkinson’s disease variant.
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This study represents the largest PD AAO meta-analysis in European-ancestry populations to date.
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The phenotypic measures “Slope” and “dMMSE/dt” consistently showed strong performance across a range of data distributions, while “Time-to-MMSE10” was particularly effective in cohorts with a higher proportion of individuals experiencing severe cognitive decline.
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Partitioned-heritability studies have shown which tissues carry the heritability of complex traits, but whether the regulatory layer whose annotations are most informative for heritability within a tissue differs between traits has not been tested, because measured annotations for different layers come from different sets of biosamples.
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Conventional, cohort-based staging exhibited profound topographical inversion, yielding negative correlations for TDP-43 ( ρ = -0.9113, p < 0.001) and α-synuclein ( ρ = -0.8660, p = 0.003) sub-cohorts.
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Sequence models predict the molecular effects of genetic variation, yet their contribution to interpreting Alzheimer’s disease (AD) association signals remains uncertain.
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Neurodegenerative diseases (NDDs) are driven by multiple related yet distinct pathological processes that evolve over decades, resulting in substantial clinical and neuropathological heterogeneity.
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The two sites associated with interactions between AD and a metabolic condition could explain the influence that those conditions have on the risk for AD and are prime candidates for future study.
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Genetically predicted BP raises WMH in European and Japanese ancestry.
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Identifying early life biomarkers of suboptimal aging trajectories could help design interventions to delay or even prevent the onset of pathological conditions in older adulthood.
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Inverse-variance weighted MR indicated that genetically predicted focal epilepsy with hippocampal sclerosis was associated with increased odds of AD (OR=3.99, 95% CI 1.17–13.61; P=0.027).
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Chronic pain and cognitive impairment are rising ageing-related burdens.
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16/100
Parkinson disease (PD) was examined in four primary adult-brain GEO cohorts (GSE49036, GSE20141, GSE8397, GSE7621) using a frozen 468-gene redox, metal, xenobiotic, and barrier panel.
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In brain, inverse-variance random-effects meta-analysis (DerSimonian–Laird) across six independent postmortem adult-brain GEO cohorts (GSE33000, GSE132903, GSE173955, GSE159699, GSE5281, GSE48350) yielded 458 analyzable panel genes, 167 at Benjamini–Hochberg FDR < 0.05, and 141 high-confidence genes (FDR < 0.05, measured in at least three cohorts, direction-concordant in at least 70% of cohorts, and nominally significant in at least two cohorts).
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This study provides the first molecular characterization of MAPT gene variants in Indonesian patients with vascular dementia.
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Multiple MTHFR coding variants were identified in this small Indonesian VaD cohort.
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Epidemiologic studies have reported that cancer survivors have a relatively low risk of developing dementia, but the mechanisms underlying that inverse relationship are mostly unknown.
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The TMEM106B risk variant was significantly enriched in AD cases with transactive response DNA-binding protein 43 kDa (TDP-43) pathology - associating with increased odds of developing AD TDP-43 subtype α - but failed to associate with Lewy body or vascular pathology.
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MTHFR C677T homozygosity was independently associated with vascular dementia (OR 3.2; 95% CI 1.1–8.9; p=0.027) and showed clustering with cognitive impairment.
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Neuroticism, a personality trait characterized by the predisposition to experience intense and frequent negative emotions, has been associated with an increased risk of Alzheimer’s disease (AD).
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Genetic risks were primarily associated with Aβ and tau pathology, clinical risks with neurodegeneration, and SDoH risks with cognition, suggesting that risk factors exert differential effects on AD pathophysiology.
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The unsupervised machine learning pipeline successfully identified a composite genetic cluster that emerged as an influential predictor in terms of relative magnitude ( η p 2 ).
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Polygenic scores summarise genetic predisposition to a trait, but a population-level accuracy figure cannot tell a clinician whether a given prediction is reliable for the person in front of them.
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Among 463,447 TPMI participants, 4381 PD patients and 43,810 controls were analysed.
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Genome-wide significant loci were identified for all biomarkers, including DACT1-DAAM1 (pTau217), KCNJ3 (pTau181), KLHDC4 (NfL), SLC10A7 (GFAP), and PPP4R2 (composite score).
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Alzheimer's disease (AD) has a strong genetic predisposition.
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16/100
Untargeted mass spectrometry remains underutilised for blood-based biomarker discovery in dementia research from large cohorts, where affinity-based approaches dominate.
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We identified chemicals enriched for dementia pathways, suggesting broad classes of chemicals contribute to dementia.
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Both intervention and control groups showed cognitive improvement over 24 weeks, with greater gains in the intervention arm.
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Established AD risk factors, including APOE ε4 dosage and polygenic risk scores, were not associated with disease progression amyloid positive individuals who are actively declining.
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Type 2 diabetes is an established risk factor for dementia.
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Known and novel signals were identified via G/T/PWAS.
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Dementia, a collective term for neurodegenerative disorders marked by cognitive decline, affects millions worldwide, and is expected to rise significantly in prevalence.
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To better characterize the genetic architecture underlying Alzheimer's disease (AD) and related dementia (ADRD), we performed a meta-analysis of European ancestry genome-wide association studies in 128,681 cases or proxy cases of ADRD and 849,833 (proxy) controls.
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While preclinical studies suggest that Phosphodiesterase 5 (PDE5) inhibition may reduce cognitive impairment, findings from observational studies on whether PDE5 inhibitors reduce Alzheimer's disease (AD) risk have been inconsistent.
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Lewy body dementia (LBD) is the second most prevalent dementia, however most genetic risk remains uncharacterized.
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The cross-ancestry Bayesian PRS model demonstrated the highest predictive performance in non-European populations.
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Cerebrospinal fluid (CSF) biomarkers can directly reflect physiological and pathological changes within the central nervous system, serving as a critical element in the preliminary diagnosis and disease monitoring of central nervous system disorders.
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OptPRS predicted AD dementia and Aβ positivity, independent of apolipoprotein E (APOE).
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Significant study-site, specimen type, and batch effects were observed.
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Plasma levels of glial fibrillary acidic protein (GFAP) and neurofilament light (NEFL) are key dementia biomarkers.
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We found genome-wide significant signals for agitation, anxiety, apathy, delusions, and hallucinations that were driven by the apolipoprotein E (APOE) ε4 allele.
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GWAS of Alzheimer's disease have been predominantly based on European ancestry cohorts with clinically diagnosed patients.
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TREM2 variant carriers (64 ± 7 years, 54% female) did not show distinct clinical measures of AD at presentation compared to AD patients not carrying a TREM2 variant (64 ± 7 years, 52% female).
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First, we mapped SVs across 81 AD risk loci and discovered 22 SVs in linkage disequilibrium (LD) with GWAS lead variants and directly associated with the phenotypes tested.
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Autosomal dominant Alzheimer's disease (ADAD) is driven by rare variants in APP, PSEN1, and PSEN2.
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43/100
Alzheimer disease (AD) is a complex and progressive neurodegenerative disorder that accounts for the majority of individuals with dementia.
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The global outbreak of COVID-19, caused by the SARS-CoV-2 virus, has been linked to long-term neurological complications, including an increased risk of Alzheimer's disease (AD) among older adults.
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The purpose of this protocol is to clearly describe the process for the scoping review we plan to conduct on the topic of polygenic risk scores (PRS) in common neurodegenerative diseases.
From across this tag
8 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 8. The same 8 appear here every time.
- Untangling Genetic Risk for Alzheimer's Disease
- Polygenic Risk Scores in Alzheimer's Disease Genetics: Methodology, Applications, Inclusion, and Diversity
- MAPT haplotype-stratified GWAS reveals differential association for AD risk variants
- Genome-wide association studies in Alzheimer's disease
- GenoRisk: A polygenic risk score for Alzheimer's disease
- Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform
- Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia
- Clinical impact of whole-genome sequencing in patients with early-onset dementia