ArticleInvestigative ophthalmology & visual science2009
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Article in Investigative ophthalmology & visual science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 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
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 114 citations in OpenAlex.
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- Genetics of Keratoconus: A Comprehensive Review.Genes · 2025Review
- Keratoconus: The Local Manifestation of a Systemic Disease?Journal of clinical medicine · 2025Review
- Computational approaches for identifications of altered ion channels in keratoconus.Eye (London, England) · 2025Article
- Keratoconus International Consortium (KIC)- advancing keratoconus research.BMC ophthalmology · 2023Article
- Sequence variants contributing to dysregulated inflammatory responses across keratoconic cone surface in adolescent patients with keratoconus.Frontiers in immunology · 2023Article
- Heritability of Corneal Parameters in Nuclear Families With Keratoconus.Translational vision science & technology · 2022Article
- 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
- Potential underlying genetic associations between keratoconus and diabetes mellitus.Advances in ophthalmology practice and research · 2021Article
- Further evaluation of differential expression of keratoconus candidate genes in human corneas.PeerJ · 2020Article
- The Proteins of Keratoconus: a Literature Review Exploring Their Contribution to the Pathophysiology of the Disease.Advances in therapy · 2019Review
- Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.Molecular syndromology · 2019Article
- Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.Ophthalmology and therapy · 2018Review
- Article
- Analysis of the VSX1 gene in sporadic keratoconus patients from China.BMC ophthalmology · 2017Article
- Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas.European journal of human genetics : EJHG · 2017Article
- Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017Review
- Molecular and Histopathological Changes Associated with Keratoconus.BioMed research international · 2017Review
- Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.European journal of human genetics : EJHG · 2017Article
- Genetics in Keratoconus: where are we?Eye and vision (London, England) · 2016Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
Abstract
purposeKeratoconus (KTCN) is a noninflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced visual acuity. Several loci responsible for a familial form of KTCN have been mapped, however; no mutations in any genes have been identified for any of these loci. There is also evidence that VSX1 and SOD1 may be involved in the etiology of KTCN. The purpose of this study was to verify the available data and to identify a new keratoconus susceptibility locus.
methodsKTCN without other ocular or systemic features was diagnosed in 18 families. VSX1 and SOD1 sequencing was performed on affected individuals and control subjects. Genomewide linkage analysis was then performed in all families using polymorphic microsatellite markers with an average spacing of 5 cM. Next, single-nucleotide polymorphism (SNP) arrays, fluorescence in situ hybridization (FISH) analysis, and a comparative genomic hybridization array were used in one family to assess a candidate region on 13q32.
resultsAll previously reported KTCN loci were excluded. VSX1 and SOD1 were sequenced, and no potentially functional variants were found. One KTCN family yielded a maximum multipoint parametric LOD score of 4.1 and multipoint nonparametric linkage (NPL) LOD score of 3.2. Multipoint linkage and haplotype analysis narrowed the locus to a 5.6-Mb region between the SNPs rs9516572 and rs3825523 on 13q32.
conclusionsThe results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb interval on 13q32.
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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.