ArticleOphthalmology science2021
Genomic-Metabolomic Associations Support the Role of
Article in Ophthalmology science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 15 citations in OpenAlex.
- An siRNA targetingMolecular therapy. Nucleic acids · 2026Article
- Age-Related Macular Degeneration: Cellular and Molecular Signaling Mechanisms.International journal of molecular sciences · 2025Review
- Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.Experimental eye research · 2025Review
- Unraveling the genetic and epigenetic landscape governing intramuscular fat deposition in rabbits: Insights and implications.Food chemistry. Molecular sciences · 2024Review
- Epigenome-metabolism nexus in the retina: implications for aging and disease.Trends in genetics : TIG · 2024Review
- Unveiling Statins and Genetics in Age-Related Macular Degeneration: The Coimbra Eye Study-Report 9.Investigative ophthalmology & visual science · 2024Article
- Workshop report - interdisciplinary metabolomic epidemiology: the pathway to clinical translation.Metabolomics : Official journal of the Metabolomic Society · 2024Article
- Metabolites and Cognitive Decline in a Puerto Rican Cohort.Journal of Alzheimer's disease : JAD · 2024Article
- Integrating genetics and metabolomics from multi-ethnic and multi-fluid data reveals putative mechanisms for age-related macular degeneration.Cell reports. Medicine · 2023Article
- Systemic Metabolomics in a Framework of Genetics and Lifestyle in Age-Related Macular Degeneration.Metabolites · 2023Article
- Neuroprotection for Age-Related Macular Degeneration.Ophthalmology science · 2022Review
- Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk.American journal of human genetics · 2022Article
- AMD Genomics: Non-Coding RNAs as Biomarkers and Therapeutic Targets.Journal of clinical medicine · 2022Review
- Urinary Mass Spectrometry Profiles in Age-Related Macular Degeneration.Journal of clinical medicine · 2022Article
- Plasma Metabolomics of Intermediate and Neovascular Age-Related Macular Degeneration Patients.Cells · 2021Article
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeLarge-scale genome-wide association studies (GWAS) have reported important single nucleotide polymorphisms (SNPs) with significant associations with age-related macular degeneration (AMD). However, their role in disease development remains elusive. This study aimed to assess SNP-metabolite associations (i.e., metabolite quantitative trait loci [met-QTL]) and to provide insights into the biological mechanisms of AMD risk SNPs.
designCross-sectional multicenter study (Boston, Massachusetts, and Coimbra, Portugal).
participantsPatients with AMD (n = 388) and control participants (n = 98) without any vitreoretinal disease (> 50 years).
methodsAge-related macular degeneration grading was performed using color fundus photographs according to the Age-Related Eye Disease Study classification scheme. Fasting blood samples were collected and evaluated with mass spectrometry for metabolomic profiling and Illumina OmniExpress for SNPs profiling. Analyses of met-QTL of endogenous metabolites were conducted using linear regression models adjusted for age, gender, smoking, 10 metabolite principal components (PCs), and 10 SNP PCs. Additionally, we analyzed the cumulative effect of AMD risk SNPs on plasma metabolites by generating genetic risk scores and assessing their associations with metabolites using linear regression models, accounting for the same covariates. Modeling was performed first for each cohort, and then combined by meta-analysis. Multiple comparisons were accounted for using the false discovery rate (FDR).
main outcome measuresPlasma metabolite levels associated with AMD risk SNPs.
resultsAfter quality control, data for 544 plasma metabolites were included. Meta-analysis of data from all individuals (AMD patients and control participants) identified 28 significant met-QTL (β = 0.016-0.083; FDR q-value < 1.14 × 10
conclusionsThis study demonstrated that genomic-metabolomic associations can provide insights into the biological relevance of AMD risk SNPs. In particular, our results support that the
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