ArticleNeurobiology of aging2014
Genome-wide association interaction analysis for Alzheimer's disease.
Article in Neurobiology of aging, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.Frontiers in aging neuroscience · 2021Pooled it
- Meta-Analysis of Differential Connectivity in Gene Co-Expression Networks in Multiple Sclerosis.International journal of molecular sciences · 2016Pooled it
- Application of a deep-learning marker for morbidity and mortality prediction derived from retinal photographs: a cohort development and validation study.The lancet. Healthy longevity · 2024Article
- Revealing third-order interactions through the integration of machine learning and entropy methods in genomic studies.BioData mining · 2024Article
- Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform.Scientific reports · 2023Article
- Leveraging the genetic correlation between traits improves the detection of epistasis in genome-wide association studies.G3 (Bethesda, Md.) · 2023Article
- Genome-wide association study of abdominal MRI-measured visceral fat: The multiethnic cohort adiposity phenotype study.PloS one · 2023Article
- Genome-wide association study identifies quantitative trait loci affecting cattle temperament.Zoological research · 2022Article
- Downregulation of Crystallin Lambda 1 is a New Independent Prognostic Marker in Clear Cell Renal Cell Carcinoma.Pharmacogenomics and personalized medicine · 2022Article
- Bench Research Informed by GWAS Results.Cells · 2021Review
- Pseudogene ACTBP2 increases blood-brain barrier permeability by promoting KHDRBS2 transcription through recruitment of KMT2D/WDR5 in AβCell death discovery · 2021Article
- Genome-wide epistasis analysis for Alzheimer's disease and implications for genetic risk prediction.Alzheimer's research & therapy · 2021Article
- The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.International journal of molecular sciences · 2021Review
- The Application of Artificial Intelligence in the Genetic Study of Alzheimer's Disease.Aging and disease · 2020Review
- Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease.Neurobiology of aging · 2020Article
- A novel estimator of between-study variance in random-effects models.BMC genomics · 2020Article
- Genetic risk for coronary heart disease alters the influence of Alzheimer's genetic risk on mild cognitive impairment.Neurobiology of aging · 2019Article
- Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood.Clinical epigenetics · 2019Article
- Quantitative Trait Module-Based Genetic Analysis of Alzheimer's Disease.International journal of molecular sciences · 2019Article
- Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.Acta neuropathologica communications · 2019Article
Corrections and comments
- Erratum issuedRamirez, Alfredo [Added]
Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
Abstract
We propose a minimal protocol for exhaustive genome-wide association interaction analysis that involves screening for epistasis over large-scale genomic data combining strengths of different methods and statistical tools. The different steps of this protocol are illustrated on a real-life data application for Alzheimer's disease (AD) (2259 patients and 6017 controls from France). Particularly, in the exhaustive genome-wide epistasis screening we identified AD-associated interacting SNPs-pair from chromosome 6q11.1 (rs6455128, the KHDRBS2 gene) and 13q12.11 (rs7989332, the CRYL1 gene) (p = 0.006, corrected for multiple testing). A replication analysis in the independent AD cohort from Germany (555 patients and 824 controls) confirmed the discovered epistasis signal (p = 0.036). This signal was also supported by a meta-analysis approach in 5 independent AD cohorts that was applied in the context of epistasis for the first time. Transcriptome analysis revealed negative correlation between expression levels of KHDRBS2 and CRYL1 in both the temporal cortex (β = -0.19, p = 0.0006) and cerebellum (β = -0.23, p < 0.0001) brain regions. This is the first time a replicable epistasis associated with AD was identified using a hypothesis free screening approach.
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Registered trials
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.