ArticleMolecular vision2011
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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.
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Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.BMC medical genomics · 2025Article
- Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.Eye and vision (London, England) · 2025Article
- Computational approaches for identifications of altered ion channels in keratoconus.Eye (London, England) · 2025Article
- Differentially expressed microRNAs targeting genes in key pathways in keratoconus.Frontiers in genetics · 2024Article
- The Underlying Relationship between Keratoconus and Down Syndrome.International journal of molecular sciences · 2022Review
- Further evaluation of differential expression of keratoconus candidate genes in human corneas.PeerJ · 2020Article
- PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.Scientific reports · 2019Article
- Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.Ophthalmology and therapy · 2018Review
- 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
- Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.PloS one · 2015Article
- The pathogenesis of keratoconus.Eye (London, England) · 2014Review
- Genetics of keratoconus: where do we stand?Journal of ophthalmology · 2014Review
- Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus.Indian journal of ophthalmology · 2013Review
- Gene therapy in keratoconus.Oman journal of ophthalmologyReview
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeKeratoconus (KTCN) is a non-inflammatory, usually bilateral disorder of the eye which results in the conical shape and the progressive thinning of the cornea. Several studies have suggested that genetic factors play a role in the etiology of the disease. Several loci were previously described as possible candidate regions for familial KTCN; however, no causative mutations in any genes have been identified for any of these loci. The purpose of this study was to evaluate role of the collagen genes collagen type IV, alpha-1 (COL4A1) and collagen type IV, alpha-2 (COL4A2) in KTCN in Ecuadorian families.
methodsCOL4A1 and COL4A2 in 15 Ecuadorian KTCN families were examined with polymerase chain reaction amplification, and direct sequencing of all exons, promoter and intron-exon junctions was performed.
resultsScreening of COL4A1 and COL4A2 revealed numerous alterations in coding and non-coding regions of both genes. We detected three missense substitutions in COL4A1: c.19G>C (Val7Leu), c.1663A>C (Thr555Pro), and c.4002A>C (Gln1334His). Five non-synonymous variants were identified in COL4A2: c.574G>T (Val192Phe), c.1550G>A (Arg517Lys), c.2048G>C (Gly683Ala), c.2102A>G (Lys701Arg), and c.2152C>T (Pro718Ser). None of the identified sequence variants completely segregated with the affected phenotype. The Gln1334His variant was possibly damaging to protein function and structure.
conclusionsThis is the first mutation screening of COL4A1 and COL4A2 genes in families with KTCN and linkage to a locus close to these genes. Analysis of COL4A1 and COL4A2 revealed no mutations indicating that other genes are involved in KTCN causation in Ecuadorian families.
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21527998PMC3081799W1585013756What OpenQuestion holds
Registered trials
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