ArticleOrphanet journal of rare diseases2020
Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin's family by multi-omics analysis.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- The candidate proteins associated with keratoconus: A meta-analysis and bioinformatic analysis.PloS one · 2024Pooled it
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- The Matricellular Protein CCN1 Induces Corneal Stromal Cells Senescence and Inflammation to Trigger Extracellular Matrix Remodeling in Keratoconus.Investigative ophthalmology & visual science · 2026Article
- Multiomics analysis elucidated the role of inflammatory response and bile acid metabolism disturbance in electric shock-induced liver injury in mice.Chinese journal of traumatology = Zhonghua chuang shang za zhi · 2026Article
- Molecular Pathogenesis of Joint Hypermobility: The Role of Intergenic Interactions.Medical sciences (Basel, Switzerland) · 2025Article
- Omics in Keratoconus: From Molecular to Clinical Practice.Journal of clinical medicine · 2025Review
- Molecular Subtype Identification and Potential Drug Prediction Based on Anoikis-Related Genes Expression in Keratoconus.Investigative ophthalmology & visual science · 2025Article
- Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.Molecular vision · 2025Article
- New dawn for keratoconus treatment: potential strategies for corneal stromal regeneration.Stem cell research & therapy · 2023Review
- Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.Genes · 2023Article
- Novel VariantInternational journal of molecular sciences · 2023Article
- Multidimensional landscape of non-alcoholic fatty liver disease-related disease spectrum uncovered by big omics data: Profiling evidence and new perspectives.Smart medicine · 2023Review
- Article
- Unravelling the Impact of Cyclic Mechanical Stretch in Keratoconus-A Transcriptomic Profiling Study.International journal of molecular sciences · 2023Article
- The Underlying Relationship between Keratoconus and Down Syndrome.International journal of molecular sciences · 2022Review
- Risk factors and severity of keratoconus on the East Coast of China.International ophthalmology · 2022Article
- Comprehensive Bioinformatics Analysis to Reveal Key RNA Targets and Hub Competitive Endogenous RNA Network of Keratoconus.Frontiers in genetics · 2022Article
- Differential expression ofOncology letters · 2021Article
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
backgroundKeratoconus (KC) is a common, degenerative disorder of the cornea, and genetic factors play a key role in its development. However, the genetic etiology of KC is still unclear. This study used the family of twins as material, using, for the first time, multi-omics analysis, to systematically display the changes in KC candidate factors in patients at the DNA, RNA, and protein levels. These can evaluate candidate pathogenic factors in depth and lock onto pathogenic targets.
resultsThe twins in this study presented classic phenotypes, clear diagnoses, complete case data, and clinical samples, which are excellent materials for genetically studying KC. Whole-exome sequencing was conducted on both the twins and their parents. Transcriptome sequencing was conducted on proband's and health individual's primary human corneal fibroblast cells. Quantitative Real-time PCR and western blot were used to validate the differential gene expressions between the proband and controls. By integrating genomics, transcriptome, and protein level data, multiple consecutive events of KC were systematically analyzed to help better understand the molecular mechanism and genetic basis of KC. The results showed that the accumulation of rare, micro-effect risk variants was the pathogenic factor in this Chinese KC family. Consistent changes in extracellular matrices (ECMs) at the DNA and RNA levels suggested that ECM related changes play a key role in KC pathogenesis. The major gene variants (WNT16, CD248, COL6A2, COL4A3 and ADAMTS3) may affect the expression of related collagens or ECM proteins, thus reducing the amount of ECM in corneas and resulting in KC.
conclusionsThis study, the first to explore the genetic etiology of KC via multi-omics analysis under the polygenetic model, has provided new insights into the genetic mechanisms underlying KC and an effective strategy for studying KC pathogenesis in the future.
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