ArticleScientific reports2020
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed.
- Genetic evidence and cross-species functional characterization implicateProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Blood DNA methylation at AMD candidate loci in discordant monozygotic twins.Scientific reports · 2026Article
- Retinal Transcriptome-Wide Association Study Identifies Novel Alzheimer's Disease Risk Genes.medRxiv : the preprint server for health sciences · 2026Article
- Clinical Evaluation of Accuracy and Speed Across Three Intraoral Scanners.Medicina (Kaunas, Lithuania) · 2026Article
- Integrative Landscape of Dry AMD Pathogenesis, Models, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement.Nature communications · 2025Article
- Exploring Contraindicated Medications and Corresponding Targeted Genes for Migraine Through Integrated Genetic Approaches.Brain and behavior · 2025Article
- Diverse-Ancestry GWAS of Age-Related Macular Degeneration on 16,108 Examined Cases and 18,038 Controls.Investigative ophthalmology & visual science · 2025Article
- Comprehensive genome-wide analysis of retinal vessel caliber reveals microvascular-blood pressure pathways: advancing predictive, preventive, and personalized medicine.The EPMA journal · 2025Article
- Alzheimer's disease and age-related macular degeneration: Shared and distinct immune mechanisms.Immunity · 2025Review
- A cross-tissue transcriptome-wide association study identified susceptibility genes for age-related macular degeneration.Scientific reports · 2025Article
- Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.Human molecular genetics · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs.Translational vision science & technology · 2024Review
- Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.Nature genetics · 2024Article
- SR-TWAS: leveraging multiple reference panels to improve transcriptome-wide association study power by ensemble machine learning.Nature communications · 2024Article
- Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.The Journal of biological chemistry · 2024Article
- Enhancing Readability and Detection of Age-Related Macular Degeneration Using Optical Coherence Tomography Imaging: An AI Approach.Bioengineering (Basel, Switzerland) · 2024Article
- Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.Human molecular genetics · 2024Article
- Multi-tissue transcriptome-wide association study identifies novel candidate susceptibility genes for cataract.Frontiers in ophthalmology · 2024Article
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6 authors.
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Abstract
Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional variants implicating a defined gene in the disease process. We now performed a transcriptome-wide association study (TWAS) allowing the prediction of effects of AMD-associated genetic variants on gene expression. The TWAS was based on the genotypes of 16,144 late-stage AMD cases and 17,832 healthy controls, and gene expression was imputed for 27 different human tissues which were obtained from 134 to 421 individuals. A linear regression model including each individuals imputed gene expression data and the respective AMD status identified 106 genes significantly associated to AMD variants in at least one tissue (Q-value < 0.001). Gene enrichment analysis highlighted rather systemic than tissue- or cell-specific processes. Remarkably, 31 of the 106 genes overlapped with significant GWAS signals of other complex traits and diseases, such as neurological or autoimmune conditions. Taken together, our study highlights the fact that expression of genes associated with AMD is not restricted to retinal tissue as could be expected for an eye disease of the posterior pole, but instead is rather ubiquitous suggesting processes underlying AMD pathology to be of systemic nature.
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