ArticlePloS one2017
Functional annotation of Alzheimer's disease associated loci revealed by GWASs.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Genetic association of BIN1 and GAB2 in Alzheimer's disease: A meta-analysis and systematic review.Geriatrics & gerontology international · 2021Pooled it
- PRISM-xQTL: Pleiotropic Relationships Integrated with System-level Multiomic QTL analysis for causal genes and molecular mediators in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis.Schizophrenia bulletin · 2024Article
- Unveiling the Genetic Complexity of Teratozoospermia: Integrated Genomic Analysis Reveals Novel Insights into lncRNAs' Role in Male Infertility.International journal of molecular sciences · 2023Article
- No genetic causal association between Alzheimer's disease and osteoporosis: A bidirectional two-sample Mendelian randomization study.Frontiers in aging neuroscience · 2023Article
- Integration of multiple-omics data to reveal the shared genetic architecture of educational attainment, intelligence, cognitive performance, and Alzheimer's disease.Frontiers in genetics · 2023Article
- Identifying genetic markers enriched by brain imaging endophenotypes in Alzheimer's disease.BMC medical genomics · 2022Article
- Genome-wide variants and polygenic risk scores for cognitive impairment following blood or marrow transplantation.Bone marrow transplantation · 2022Article
- The Role of Atypical Chemokine Receptor D6 (ACKR2) in Physiological and Pathological Conditions; Friend, Foe, or Both?Frontiers in immunology · 2022Review
- Bioinformatics pipeline to guide late-onset Alzheimer's disease (LOAD) post-GWAS studies: Prioritizing transcription regulatory variants within LOAD-associated regions.Alzheimer's & dementia (New York, N. Y.) · 2022Article
- A Genome-Wide Study of Single-Nucleotide Polymorphisms in MicroRNAs and Further In Silico Analysis Reveals Their Putative Role in Susceptibility to Late-Onset Alzheimer's Disease.Molecular neurobiology · 2021Article
- Molecular linkage between post-traumatic stress disorder and cognitive impairment: a targeted proteomics study of World Trade Center responders.Translational psychiatry · 2020Article
- Atypical chemokine receptor ACKR2-V41A has decreased CCL2 binding, scavenging, and activation, supporting sustained inflammation and increased Alzheimer's disease risk.Scientific reports · 2020Article
- "Amyloid-beta accumulation cycle" as a prevention and/or therapy target for Alzheimer's disease.Aging cell · 2020Review
- Detrimental and synergistic role of epilepsy - Alzheimer's disease risk factors.Neural regeneration research · 2019Article
- Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes.BioData mining · 2019Review
- Cortical astroglia undergo transcriptomic dysregulation in the G93A SOD1 ALS mouse model.Journal of neurogenetics · 2018Article
- Computational analyses of obesity associated loci generated by genome-wide association studies.PloS one · 2018Article
- Prediction of Alzheimer's Disease-Associated Genes by Integration of GWAS Summary Data and Expression Data.Frontiers in genetics · 2018Article
- Machine learning-based identification of genetic interactions from heterogeneous gene expression profiles.PloS one · 2018Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWASs) discovered a number of SNPs and genes associated with Alzheimer's disease (AD). However, how these SNPs and genes influence the liability to AD is not fully understood. We deployed computational approaches to explore the function and action mechanisms of AD -related SNPs and genes identified by GWASs, including the effects of 195 GWAS lead SNPs and 338 proxy SNPs on miRNAs binding and protein phosphorylation, their RegulomeDB and 3DSNP scores, and gene ontology, pathway enrichment and protein-protein interaction network of 126 AD-associated genes. Our computational analysis identified 6 lead SNPs (rs10119, rs1048699, rs148763909, rs610932, rs6857 and rs714948) and 2 proxy SNPs (rs12539172 and rs2847655) that potentially impacted the miRNA binding. Lead SNP rs2296160 and proxy SNPs rs679620 and rs2228145 were identified as PhosSNPs potentially influencing protein phosphorylation. AD-associated genes showed enrichment of "regulation of beta-amyloid formation", "regulation of neurofibrillary tangle assembly", "leukocyte mediated immunity" and "protein-lipid complex assembly" signaling pathway. Protein-protein interaction network and functional module analyses identified highly-interconnected "hub" genes (APOE, PICALM, BIN1, ABCA7, CD2AP, CLU, CR1, MS4A4E and MS4A6A) and bottleneck genes (APOE, TOMM40, NME8, PICALM, CD2AP, ZCWPW1, FAM180B, GAB2 and PTK2B) that created three tight subnetworks. Our results provided the targets for further experimental assessment and further insight on AD pathophysiology.
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