ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2019
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Transcriptional landscape of human microglia implicates age, sex, and APOE-related immunometabolic pathway perturbations.Aging cell · 2022Pooled it
- Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias.medRxiv : the preprint server for health sciences · 2026Article
- Integrative epigenomic landscape of Alzheimer's Disease brains reveals oligodendrocyte molecular perturbations associated with tau.Nature communications · 2026Article
- APP-C31 pathology as a target in neurodegenerative diseases.Journal of biomedical science · 2026Review
- Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.Journal of Alzheimer's disease : JAD · 2026Article
- DDT exposure induces microglial activation and disease-associated microglial signatures: Relevance to mechanisms of Alzheimer's disease.Neurotoxicology · 2025Article
- Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis.Human molecular genetics · 2025Article
- The impact of rare genetic variants on Alzheimer disease.Nature reviews. Neurology · 2025Review
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
- Article
- Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Genetics of Alzheimer's Disease in the African American Population.Journal of clinical medicine · 2023Review
- Modifiable cardiovascular risk factors and genetics for targeted prevention of dementia.European heart journal · 2023Article
- Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.Journal of proteome research · 2023Article
- Characterisation of C101248: A novel selective THIK-1 channel inhibitor for the modulation of microglial NLRP3-inflammasome.Neuropharmacology · 2023Article
- Review
- Multi-modality machine learning predicting Parkinson's disease.NPJ Parkinson's disease · 2022Article
- Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- REPS1 as a Potential Biomarker in Alzheimer's Disease and Vascular Dementia.Frontiers in aging neuroscience · 2022Article
- AnFrontiers in molecular neuroscience · 2022Article
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Authors and funding
15 authors at 5 institutions in 1 country.
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Abstract
introductionThe genetic architecture of Alzheimer's disease (AD) is only partially understood.
methodsWe conducted an association study for AD using whole sequence data from 507 genetically enriched AD cases (i.e., cases having close relatives affected by AD) and 4917 cognitively healthy controls of European ancestry (EA) and 172 enriched cases and 179 controls of Caribbean Hispanic ancestry. Confirmation of top findings from stage 1 was sought in two family-based genome-wide association study data sets and in a whole genome-sequencing data set comprising members from 42 EA and 115 Caribbean Hispanic families.
resultsWe identified associations in EAs with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant (rs116437863; P = 2.44 × 10 DISCUSSION: Our study demonstrated that an enriched case design can strengthen genetic signals, thus allowing detection of associations that would otherwise be missed in a traditional case-control study.
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