ArticleNature communications2023
Functional variants identify sex-specific genes and pathways in Alzheimer's Disease.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Meta-evolutionary exome analysis identifies novel type 2 diabetes mellitus genes in the UK Biobank and all of us.PLoS genetics · 2025Pooled it
- Sex-specific regulation of angiogenin in Alzheimer's disease.Molecular psychiatry · 2026Article
- Article
- Let's talk about sex: Male and female mice show similar fear memory retention despite hippocampal activity differences during encoding and consolidation.bioRxiv : the preprint server for biology · 2026Article
- Opposite molecular sex correlations in tauopathy paralleled by motor and cognitive efficacy of davunetide in women.Molecular psychiatry · 2026Article
- Fairness-aware supervised hierarchical contrastive semantic learning for sexual dimorphism analysis.Bioinformatics (Oxford, England) · 2026Article
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.American journal of human genetics · 2026Article
- Genetic risk in Alzheimer's disease.NPJ systems biology and applications · 2026Review
- Impaired Oxidative Stress Markers and Activities of Matrix Metalloproteinases in Plasma of Patients with Alzheimer's Disease, Emphasizing Sex andInternational journal of molecular sciences · 2025Article
- Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.Annals of the rheumatic diseases · 2025Article
- Computational and functional prioritization identifies genes that rescue behavior and reduce tau protein in fly and human cell models of Alzheimer disease.American journal of human genetics · 2025Article
- Gene clusters linked to insulin resistance identified in a genome-wide study of the Taiwan Biobank population.Nature communications · 2025Article
- Multi-Ancestry Transcriptome-Wide Association Studies of Cognitive Function, White Matter Hyperintensity, and Alzheimer's Disease.International journal of molecular sciences · 2025Article
- SPIN: sex-specific and pathway-based interpretable neural network for sexual dimorphism analysis.Briefings in bioinformatics · 2024Article
- Special Issue "Alzheimer's Disease-115 Years after Its Discovery".Biomedicines · 2024Article
- Circulating microRNA miR-425-5p Associated with Brain White Matter Lesions and Inflammatory Processes.International journal of molecular sciences · 2024Article
- Evolutionary Action-Machine Learning Model Identifies Candidate Genes Associated With Early-Onset Coronary Artery Disease.Journal of the American Heart Association · 2023Article
- Long-term social isolation stress exacerbates sex-specific neurodegeneration markers in a natural model of Alzheimer's disease.Frontiers in aging neuroscience · 2023Article
- Sex differences in treatment effects of lecanemab and donanemab: A Bayesian reanalysis of CLARITY-AD and TRAILBLAZER-ALZ2.Alzheimer's & dementia (New York, N. Y.)Article
Corrections and comments
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
Abstract
The incidence of Alzheimer's Disease in females is almost double that of males. To search for sex-specific gene associations, we build a machine learning approach focused on functionally impactful coding variants. This method can detect differences between sequenced cases and controls in small cohorts. In the Alzheimer's Disease Sequencing Project with mixed sexes, this approach identified genes enriched for immune response pathways. After sex-separation, genes become specifically enriched for stress-response pathways in male and cell-cycle pathways in female. These genes improve disease risk prediction in silico and modulate Drosophila neurodegeneration in vivo. Thus, a general approach for machine learning on functionally impactful variants can uncover sex-specific candidates towards diagnostic biomarkers and therapeutic targets.
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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.