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genome-wide
346 studies tagged genome-wide, 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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Dementia is a leading cause of death in many countries.
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The number of patients with Alzheimer's disease (AD) is rapidly increasing in Asia.
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Atrial fibrillation (AF) is the most common heart rhythm disorder worldwide and may have serious cardiovascular health consequences.
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Autopsy measures of Alzheimer's disease neuropathology have been leveraged as endophenotypes in previous genome-wide association studies (GWAS).
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We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions.
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45/100
Ninety per cent of the human population has been right-handed since the Paleolithic, yet the brain signature and genetic basis of handedness remain poorly characterized.
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Alzheimer's disease (AD) is the most common type of neurodegenerative dementia, but the cause of AD remained poorly understood.
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41/100
Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs.
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55/100
Mild-cognitive impairment (MCI) occurs in up to one-fifth of individuals over the age of 65, with approximately a third of MCI individuals converting to dementia in later life.
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It becomes increasingly important in using genome-wide association studies (GWAS) to select important genetic information associated with qualitative or quantitative traits.
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45/100
Genome-wide association studies (GWAS) originally identified ATP-binding cassette, sub-family A, member 7 (ABCA7), as a novel risk gene of Alzheimer's disease (AD).
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Polygenic Risk Score significantly predicted the risk associated with age at AD onset when SNPs were preselected for association to AD at P ≤ 0.001.
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Neurodegenerative diseases, neuropsychiatric disorders, and related traits have highly complex etiologies but are also highly heritable and identifying the causal genes and biological pathways underlying these traits may advance the development of treatments and preventive strategies.
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It is well established that sporadic Alzheimer's disease (AD) is polygenic with common and rare genetic variation alongside environmental factors contributing to disease.
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Causative mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) account for a majority of cases of familial Alzheimer disease (FAD) inherited in an autosomal-dominant pattern.
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50/100
Mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) are major genetic causes of early-onset Alzheimer's disease (EOAD).
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Alzheimer disease (AD) is the fourth major cause of death in the elderly following cancer, heart disease and cerebrovascular disease.
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We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near CDKN2B-AS1 , ATXN2/BRAP , FURIN/FES , ZW10 , PSORS1C3 , and 13q21.31, and identify and replicate novel findings near ABO , ZC3HC1 , and IGF2R .
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We identified associations in EAs with variants in 12 novel loci.
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The genetic risk score for TL was associated with higher risk of AD [log-odds ratio (OR) = 0.003 for per TL-decreasing allele; 95% confidence interval (CI): 0.001, 0.005, p = 0.005].
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The We and others have previously shown that polygenic risk score analysis (PRS) has considerable predictive utility for identifying those at high risk of developing Alzheimer's disease (AD) with an area under the curve (AUC) of >0.8.
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50/100
Familial Alzheimer's disease (FAD) is characterized by a positive family history of dementia and typically occurs at an early age with an autosomal dominant pattern of inheritance.
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Both social and genetic factors contribute to cognitive impairment and decline, yet genetic factors identified through genome-wide association studies (GWAS) explain only a small portion of trait variability.
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Tau and amyloid beta (Aβ) proteins accumulate along neuronal circuits in Alzheimer's disease.
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Differentially methylated positions (DMPs) between persons with and without late-onset Alzheimer's disease (LOAD) were observed at 477 of 769,190 loci in a plurality of genes.
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Alzheimer's disease (AD) is the most common neurodegenerative disease.
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A pathogenic mutation in the PSEN2 gene in a Korean patient associated with EOAD was identified.
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We propose that PSEN1 M84V, PSEN1 A396T, PSEN2 R284G, and APP T719N are likely pathogenic mutations, whereas PSEN1 c.379_382delXXXXinsG and PSEN2 L238F have uncertain pathogenicity.
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43/100
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS).
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After more than 10 years of accumulated efforts, genome-wide association studies (GWAS) have led to many findings, most of which have been deposited into the GWAS Catalog.
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Intelligence is highly heritable 1 and a major determinant of human health and well-being 2 .
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These results provide new insight into the genetic basis of habitual PA, and the genetic links connecting PA with other traits and diseases.
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Potential pharmacogenetic biomarkers for AD have been identified; however, it is still necessary to conduct further research into other populations and to identify new biomarkers.
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The advent of genome-wide association studies (GWASs) constituted a breakthrough in our understanding of the genetic architecture of multifactorial diseases.
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Arousal affects cognition, emotion, and behavior and has been implicated in the etiology of psychiatric disorders.
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Genetics can provide a systematic approach to discovering the tissues and cell types relevant for a complex disease or trait.
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A variant in AKAP9, p.R434W, segregated significantly with LOAD in two large families (OR = 5.77, 95% CI: 1.07-30.9, P = 0.041).
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Recently, several studies have investigated the association between the rare mutation of triggering receptor expressed on myeloid cells 2 (TREM2) gene (rs75932628-T) and the risk of late-onset Alzheimer's disease (LOAD), but they did not draw the same conclusion.
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Health risk factors such as body mass index (BMI) and serum cholesterol are associated with many common diseases.
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The Brains for Dementia Research project is a recently established longitudinal cohort which aims to provide brain tissue for research purposes from neuropathologically defined samples.
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Alzheimer's disease (AD) is heritable with complex genetic underpinnings.
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In the replication stage, we performed genotyping of significant and suggestive results from the discovery stage.
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We undertook a genome-wide association study (GWAS) of parental longevity in European descent UK Biobank participants.
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Our results suggest that RAB10 could be a promising therapeutic target for AD prevention.
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We aimed to summarize the recent advances in genetic findings of Alzheimer's disease (AD), focusing on traditional single-marker and gene approaches and non-traditional ones, i.e., polygenic and epistatic components.
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Higher GRS predicted mortality (hazard ratio = 1.05; 95% confidence interval: 1.00-1.10, P = .04).
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Functional phenotypes (e.g., subcortical surface representation), which commonly arise in imaging genetic studies, have been used to detect putative genes for complexly inherited neuropsychiatric and neurodegenerative disorders.
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Language impairment is common in prodromal stages of Alzheimer's disease (AD) and progresses over time.
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Alzheimer's disease (AD) is a genetically heterogeneous neurodegenerative disorder caused by fully penetrant single gene mutations in a minority of cases, while the majority of cases are sporadic or show modest familial clustering.
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The pathogenic relevance in Alzheimer's disease (AD) presents a decrease of cerebrospinal fluid amyloid-ß42 (Aß42) burden and an increase in cerebrospinal fluid total tau (T-tau) levels.
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.
- Genetics of Alzheimer's Disease in the African American Population
- Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese
- Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers
- Investigating the Genetic Characteristics of Hippocampal Volume and Plasma β-Amyloid in a Chinese Community-Dwelling Population
- Clinical impact of whole-genome sequencing in patients with early-onset dementia
- Large-Scale Genome-wide association study identified Shared Genetic Risk SNPs Correlates in Epilepsy and Alzheimer's Disease
- Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
- Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies