ArticleJournal of neurology, neurosurgery, and psychiatry2017
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Article in Journal of neurology, neurosurgery, and psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
75 citing papers in PubMed, 2 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- Identifying Risk Genes and Interpreting Pathogenesis for Parkinson's Disease by a Multiomics Analysis.Genes · 2020Pooled it
- Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.PLoS medicine · 2018Pooled it
- Cumulative Incidence in Monogenic Alzheimer's Disease and Frontotemporal Dementia: Gene-Gene Interaction Effect.International journal of molecular sciences · 2026Article
- APOE ε4 carriers share immune-related proteomic changes across neurodegenerative diseases.Nature medicine · 2025Article
- Interaction of genetic variants and methylation in transcript-level expression regulation in Alzheimer's disease by multi-omics data analysis.BMC genomics · 2025Article
- Characterisation of the function of a lncRNA containing SINE-VNTR-Alu 67 to regulate the genes at theExperimental biology and medicine (Maywood, N.J.) · 2025Article
- Genetic structure of different ethnic populations at the frontotemporal dementia risk loci.PloS one · 2025Article
- Article
- Epigenomic and clinical analyses of striatal DAT binding in healthy individuals reveal well-known loci of Parkinson's disease.Heliyon · 2024Article
- LD-informed deep learning for Alzheimer's gene loci detection using WGS data.medRxiv : the preprint server for health sciences · 2024Article
- Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- The seeds of its regulation: Natural antisense transcripts as single-gene control switches in neurodegenerative disorders.Ageing research reviews · 2024Review
- Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.American journal of human genetics · 2024Article
- Article
- Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Polygenic risk associated with Alzheimer's disease and other traits influences genes involved in T cell signaling and activation.Frontiers in immunology · 2024Article
- Article
- Influence of Alzheimer's disease related neuropathology on local microenvironment gene expression in the human inferior temporal cortex.GEN biotechnology · 2023Article
- 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability.Reports (MDPI) · 2023Article
- Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis.Alzheimer's research & therapy · 2023Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundClinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between FTD, AD and PD to assess shared pathobiology and identify novel genetic variants associated with increased risk for FTD.
methodsSummary statistics were obtained from the International FTD Genomics Consortium, International PD Genetics Consortium and International Genomics of AD Project (n>75 000 cases and controls). We used conjunction false discovery rate (FDR) to evaluate genetic pleiotropy and conditional FDR to identify novel FTD-associated SNPs. Relevant variants were further evaluated for expression quantitative loci.
resultsWe observed SNPs within the HLA, MAPT and APOE regions jointly contributing to increased risk for FTD and AD or PD. By conditioning on polymorphisms associated with PD and AD, we found 11 loci associated with increased risk for FTD. Meta-analysis across two independent FTD cohorts revealed a genome-wide signal within the APOE region (rs6857, 3'-UTR=PVRL2, p=2.21×10
conclusionsOur findings demonstrate genetic pleiotropy in these neurodegenerative diseases and indicate that sporadic FTD is a polygenic disorder where multiple pleiotropic loci with small effects contribute to increased disease risk.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.