ArticleFrontiers in genetics2022
Comprehensive Transcriptome Analysis of Patients With Keratoconus Highlights the Regulation of Immune Responses and Inflammatory Processes.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- The candidate proteins associated with keratoconus: A meta-analysis and bioinformatic analysis.PloS one · 2024Pooled it
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- Morphological changes after corneal stromal lenticule excimer laser shaping.Experimental and therapeutic medicine · 2025Article
- Construction and characteristics of an adjustable biomechanical in vitro corneal stromal model simulating keratoconus pathological features.Materials today. Bio · 2025Article
- Genetic and immune landscape of keratoconus: insights from Mendelian randomization analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Machine Learning-Driven Transcriptome Analysis of Keratoconus for Predictive Biomarker Identification.Biomedicines · 2025Article
- Research Progress on the Therapeutic Mechanisms of Stigmasterol for Multiple Diseases.Molecules (Basel, Switzerland) · 2025Review
- Omics in Keratoconus: From Molecular to Clinical Practice.Journal of clinical medicine · 2025Review
- Screening and Identification of Basement Membrane-Related Gene Signatures for Diagnosis in Keratoconus Through WGCNA and Machine Learning.Journal of ophthalmology · 2025Article
- Computational approaches for identifications of altered ion channels in keratoconus.Eye (London, England) · 2025Article
- Pachychoroid pigment epitheliopathy in keratoconic eyes.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Observational
- Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea.Scientific reports · 2024Article
- Identification of hub genes and molecular pathways in keratoconus by integrating bioinformatics and literature mining at the RNA level.International ophthalmology · 2024Article
- Investigation of Potential Crucial Genes and Key Pathways in Keratoconus: An Analysis of Gene Expression Omnibus Data.Biochemical genetics · 2023Article
- Screening and identification of genes related to ferroptosis in keratoconus.Scientific reports · 2023Article
- Characteristics of Autophagy-Related Genes, Diagnostic Models, and Their Correlation with Immune Infiltration in Keratoconus.Journal of inflammation research · 2023Article
- Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.Frontiers in genetics · 2022Article
- Anterior segment characteristics in normal and keratoconus eyes evaluated with a new type of swept-source optical coherence tomography.PloS one · 2022Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Keratoconus (KTCN), characterized by the steeper curvature of the cornea and the thinner central corneal thickness, was a degenerative corneal ectasia with ambiguous etiology and mechanism. We aim to reveal underlying pathological mechanisms of KTCN by multi-level transcriptomic, integrative omics analyses. We performed RNA-sequencing on corneal epithelial samples from seven patients and seven control donors, as well as peripheral matched blood samples from three of the patients and three control donors. After RNA extraction, library construction, and sequencing, differentially expressed genes and splicing events were identified, followed by over-representation analysis. In total, 547 differential expressed genes were identified in KTCN corneal epithelial samples, which were mainly enriched in immune responses and inflammatory processes. WGCNA module analysis, the transcriptomic analysis of peripheral blood samples, multiple omics data, and the meta-analysis of GEO samples confirmed the involvement of immune and inflammatory factors. Besides, 190 and 1,163 aberrant splicing events were identified by rMATS combined with CASH methods in corneal epithelial and blood samples with KCTN. In conclusion, this comprehensive transcriptome analysis of KTCN patients based on patients' tissue and blood samples uncovered a significant association between immune-inflammatory genes and pathways with KCTN, highlighting the contribution of the perturbed immune signaling to the pathogenesis of KCTN. Our study suggested the importance of measures to control inflammation in the treatment of KCTN.
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