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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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54/100
We identified 133 unique and shared metabolites associated with ADAD, TREM2, and sAD.
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Alzheimer's disease (AD) has multiple clinically and pathologically defined subtypes where the underlying causes of such heterogeneity are not well established.
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We identified five novel variants in the presenilin1 (PSEN1) gene from Brazilian and Mexican families.
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A total of 37 SuperAgers (73% female, mean [standard deviation] 82.7 [2.8] years old) and 35 controls (54% female, 83.7 [4.3] years old) were included.
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We propose a novel method to identify disease-related genetic variants enriched by imaging endophenotypes, which are the imaging traits associated with both genetic factors and disease status.
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Clinical genetic diagnosis was achieved in 7 of 50 (14%) of the patients, with a further 8 patients (16%) found to have established risk factors which may have contributed to their EOD.
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A total of 1,261 participants from a Chinese community cohort were included and we identified 1 gene, PTPRT, for HV, with the top significant SNPs by whole genome-wide association study (GWAS). rs6030076 (p = 5.48 × 10-8, β = -0.092, SE 0.017) from WES and rs6030088 (p = 8.24 × 10-9, β = -105.22, SE 18.09) from SNP array data were both located in this gene.
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Hippocampal subfield atrophy is a prime structural change in the brain, associated with cognitive aging and neurodegenerative diseases such as Alzheimer's disease.
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Genetic variation in sulfonylurea targets was associated with a lower risk of AD, and future studies are warranted to clarify the underlying mechanistic pathways between sulfonylureas and AD.
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Four out of 10 TREM2 mutant variants have been identified in the analyzed groups, namely rs75932628 C > T (R47H), rs142232675 C > T (D87N), rs143332484 C > T (R62H), and rs2234253 G > T (T96K).
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Previous genome-wide association studies have identified numerous genetic variants and revealed the genetic architecture of educational attainment, another marker of cognitive reserve.
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In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease.
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As the size of genome-wide association studies increase, the number of associated trait loci identified inevitably increase.
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Alzheimer disease (AD) is the most common type of dementia and is currently estimated to affect 6.2 million Americans.
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Anorexia nervosa (AN) is a devastating disorder with evidence of underexplored heritability.
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Monogenic causes of complex diseases were more prevalent among individuals with a parental disease history than in the rest of the population.
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The three female patients had an age of onset of symptoms of 38-51 years.
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Alzheimer's disease (AD) is the most common form of dementia and a growing public health burden in the United States.
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Alzheimer's disease (AD) is the most common multifactorial neurodegenerative disease among elderly people.
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54/100
We investigated which factors might explain the differences between the frequencies of brain β-amyloid (Aβ) deposition in Korean and European cognitively normal individuals (CNs).
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We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci associated with neurological outcomes (AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, FMR1, FXN, HTT, and TBP) using samples obtained within the National Health Service in England from patients who were suspected of having neurological disorders; previous PCR test results were used as the reference standard.
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Brain arteriolosclerosis (B-ASC) is characterized by pathologically altered brain parenchymal arterioles.
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Using the data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits.
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Cerebral small vessel disease (cSVD) is a leading cause of ischaemic and haemorrhagic stroke and a major contributor to dementia.
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ADVP V1.0 (February 2021) catalogs 6,990 associations related to disease-risk, expression quantitative traits, endophenotypes, or neuropathology.
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It enables robust identification of signaling pathways enriched in disease susceptibility loci.
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61/100
The established association of APOE*4 carriers with AD was confirmed in this community-based sample of older subjects (odds ratio (OR) = 2.22; p = 9.36E-14) and was stronger in females (OR = 2.72; p = 1.74E-10) than in males (OR = 1.88; p = 2.43E-05).
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The success of genome-wide association studies (GWAS) completed in the last 15 years has reinforced a key fact: polygenic architecture makes a substantial contribution to variation of susceptibility to complex disease, including Alzheimer's disease.
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Nine PSEN2 rare variants were found, including two reported (M239T, R62C) and seven novel variants (N141S, I368F, L396I, G117X, I146T, S147N, H220Y).
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52/100
We identified 7 functional variants in APP/PSENs in 8 patients, including 1 APP mutation (p. Val715Met), 3 PSEN1 mutations (p. Phe177Ser; p. Arg377Met; p. Ile416Thr), and 3 PSEN2 mutations (p. Glu24Lys; p. Gly34Ser; p. Met239Thr).
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We calculated a PRS for LOY in 5131 men aged 70 years and older.
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We developed an endophenotype disease module-based methodology for Alzheimer's disease (AD) drug repurposing and identified sildenafil as a potential disease risk modifier.
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Affinity-based proteomics has enabled scalable quantification of thousands of protein targets in blood enhancing biomarker discovery, understanding of disease mechanisms, and genetic evaluation of drug targets in humans through protein quantitative trait loci (pQTLs).
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The genetic locus containing the WWOX and MAF genes was implicated as a clinical Alzheimer's disease (AD) risk locus in two recent large meta-analytic genome wide association studies (GWAS).
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The elastic net model that included age, age x sex interaction, allelic APOE terms, and 29 additional SNPs performed the best.
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59/100
The PRS for AD was significantly higher in APOE ε4 homozygote AD cases compared to older cognitively healthy APOE ε4/ε4 controls (odds ratio [OR] 8.39; confidence interval [CI] 2.0-35.2; P = .003).
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Familial Alzheimer's disease (FAD) is caused by autosomal dominant mutations in the PSEN1, PSEN2 or APP genes, giving rise to considerable clinical and pathological heterogeneity in FAD.
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Polygenic Risk Scores (PRS) for AD offer unique possibilities for reliable identification of individuals at high and low risk of AD.
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The treatment of complex and multifactorial diseases constitutes a big challenge in day-to-day clinical practice.
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The strategies of classifying APP, PSEN1, and PSEN2 variants varied substantially in the previous studies.
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Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials.
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Late-onset Alzheimer's disease (AD) has a significant genetic and immunological component, but the molecular mechanisms through which genetic and immunity-related risk factors and their interplay contribute to AD pathogenesis are unclear.
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Levels of sociability are continuously distributed in the general population, and decreased sociability represents an early manifestation of several brain disorders.
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Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology.
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We identify novel genome-wide significant associations between DNA variants in TMEM106B and CSF levels of NfL, and between CPOX and YKL-40.
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Plasma phosphorylated tau at threonine-181 (P-tau181) demonstrates promise as an accessible blood-based biomarker specific to Alzheimer's Disease (AD), with levels recently demonstrating high predictive accuracy for AD-relevant pathology.
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We identified a PSEN1 variant (p.Thr291Pro) in an individual presenting with pure SP at 30 years of age.
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UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes.
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Alzheimer's disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases.
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42 common genes were identified between OSA and dementia which were primarily linked to the G-coupled protein receptor (GPCR) and olfactory pathways.
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.
- SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis
- Genetic disease amongst the Plain community
- Structured Genome-Wide Association Studies with Bayesian Hierarchical Variable Selection
- Genome-wide association study of Alzheimer's disease
- Human longevity: 25 genetic loci associated in 389,166 UK biobank participants
- Genetic influences on brain and cognitive health and their interactions with cardiovascular conditions and depression
- Early-onset familial Alzheimer's disease in a family with mutation of presenilin 2 gene
- Optimizing Cognitive Phenotyping for Genetic Discovery in Alzheimer’s Disease: A Simulation-Based Evaluation of Mini-Mental State Examination-Based Decline Measures