ArticlePloS one2018
Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Artificial intelligence-driven diagnosis for age-related macular degeneration bridging pathology and engineering: a survey.International ophthalmology · 2025Review
- Gene therapy for age-related macular degeneration: a promising frontier in vision preservation.Cell communication and signaling : CCS · 2025Review
- Dysregulated lipid metabolism in a retinal pigment epithelial cell model and serum of patients with age-related macular degeneration.BMC biology · 2025Article
- SLC25A48 controls mitochondrial choline import and metabolism.Cell metabolism · 2024Article
- Metabolomic-derived endotypes of age-related macular degeneration (AMD): a step towards identification of disease subgroups.Scientific reports · 2024Article
- Effects of wolfberry (Frontiers in nutrition · 2024Article
- Article
- Integrative metabolome and lipidome analyses of plasma in neovascular macular degeneration.Heliyon · 2023Article
- The Need for Artificial Intelligence Based Risk Factor Analysis for Age-Related Macular Degeneration: A Review.Diagnostics (Basel, Switzerland) · 2022Review
- Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies-A Critical Review.International journal of molecular sciences · 2022Review
- An Altered Sphingolipid Profile as a Risk Factor for Progressive Neurodegeneration in Long-Chain 3-Hydroxyacyl-CoA Deficiency (LCHADD).International journal of molecular sciences · 2022Article
- Differential expression and alternative splicing of transcripts in orbital adipose/connective tissue of thyroid-associated ophthalmopathy.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- Article
- Association of Human Plasma Metabolomics with Delayed Dark Adaptation in Age-Related Macular Degeneration.Metabolites · 2021Article
- Editorial to the Special Issue "Lipidomics and Neurodegenerative Diseases".International journal of molecular sciences · 2021Article
- Complement activation, lipid metabolism, and mitochondrial injury: Converging pathways in age-related macular degeneration.Redox biology · 2020Review
- Integrated bioinformatics analysis of aberrantly-methylated differentially-expressed genes and pathways in age-related macular degeneration.BMC ophthalmology · 2020Article
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Alteration of Sphingolipids in Biofluids: Implications for Neurodegenerative Diseases.International journal of molecular sciences · 2019Review
- Sphingolipids as Emerging Mediators in Retina Degeneration.Frontiers in cellular neuroscience · 2019Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sphingolipids are bioactive molecules associated with oxidative stress, inflammation, and neurodegenerative diseases, but poorly studied in the context of age-related macular degeneration (AMD), a prevalent sight-threatening disease of the ageing retina. Here, we found higher serum levels of hexosylceramide (HexCer) d18:1/16:0 in patients with choroidal neovascularization (CNV) and geographic atrophy (GA), two manifestations of late stage AMD, and higher ceramide (Cer) d18:1/16:0 levels in GA patients. A sensitivity analysis of genetic variants known to be associated with late stage AMD showed that rs1061170 (p.Y402H) in the complement factor H (CFH) gene influences the association of Cer d18:1/16:0 with GA. To understand the possible influence of this genetic variant on ceramide levels, we established a cell-based assay to test the modulation of genes in the ceramide metabolism by factor H-like protein 1 (FHL-1), an alternative splicing variant of CFH that also harbors the 402 residue. We first showed that malondialdehyde-acetaldehyde adducts, an oxidation product commonly found in AMD retinas, induces an increase in ceramide levels in WERI-Rb1 cells in accordance with an increased expression of ceramide synthesis genes. Then, we observed that cells exposed to the non-risk FHL-1:Y402, but not the risk associated variant FHL-1:H402 or full-length CFH, downregulated ceramide synthase 2 and ceramide glucosyltransferase gene expression. Together, our findings show that serum ceramide and hexosylceramide species are altered in AMD patients and that ceramide levels may be influenced by AMD associated risk variants.
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