ArticleMolecular vision2011
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03071302 (Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas), which is not on this map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas
Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- Genetics of Keratoconus: A Comprehensive Review.Genes · 2025Review
- Keratoconus: The Local Manifestation of a Systemic Disease?Journal of clinical medicine · 2025Review
- Disease-CausingInternational journal of molecular sciences · 2024Article
- Expression of Tissue Inhibitors of Metalloproteinases (TIMP-1, TIMP-2, TIMP-3, TIMP-4) in Blood Serum of Patients with Keratoconus.Journal of clinical medicine · 2024Article
- Clinical and genetic analysisFrontiers in genetics · 2023Article
- The Underlying Relationship between Keratoconus and Down Syndrome.International journal of molecular sciences · 2022Review
- Functions and Mechanisms of Pro-Lysyl Oxidase Processing in Cancers and Eye Pathologies with a Focus on Diabetic Retinopathy.International journal of molecular sciences · 2022Review
- SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.Scientific reports · 2022Article
- Potential underlying genetic associations between keratoconus and diabetes mellitus.Advances in ophthalmology practice and research · 2021Article
- Evaluating the association between single nucleotide polymorphisms in the stonin 2 (Annals of translational medicine · 2021Article
- Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients.Korean journal of ophthalmology : KJO · 2021Article
- Omics analyses in keratoconus: from transcriptomics to proteomics.Current ophthalmology reports · 2020Article
- Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.BMC medical genetics · 2020Article
- Composition, structure and function of the corneal stroma.Experimental eye research · 2020Review
- Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population.BMC research notes · 2020Article
- Further evaluation of differential expression of keratoconus candidate genes in human corneas.PeerJ · 2020Article
- Replication of the Association Between Keratoconus and Polymorphisms inFrontiers in genetics · 2020Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the involvement of Visual System Homeobox 1 (VSX1), Secreted Protein Acidic and Rich in Cysteine (SPARC), Superoxide Dismutase 1 (SOD1), Lysyl Oxidase (LOX), and Tissue Inhibitor of Metalloproteinase 3 (TIMP3) in sporadic and familial keratoconus.
methodsMutational analysis of the five genes was performed by sequencing and fragment analysis in a large cohort of 302 Italian patients, with a diagnosis of keratoconus based on clinical examination and corneal topography. The variants identified in VSX1 and SPARC were also assessed in the available relatives of the probands.
resultsA novel mutation p.G239R and previously reported mutations were found in VSX1. Novel and already reported variants were identified in SPARC and SOD1, whose pathogenic significance has not been established. No pathogenic variants have been identified in LOX and TIMP3.
conclusionsMolecular analysis of the five genes in a cohort of 225 sporadic and 77 familial keratoconus cases confirms the possible pathogenic role of VSX1 though in a small number of patients; a possible involvement of LOX and TIMP3 could be excluded; and the role played by SOD1 and SPARC in determining the disease as not been definitively clarified. Further studies are required to identify other important genetic factors involved in the pathogenesis and progression of the disease that in the authors' opinion, and according with several authors, should be considered as a complex disease.
Indexed as
Identifiers
21976959PMC3185016W1543994696What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.