SynthesisInvestigative ophthalmology & visual science2013
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.
Synthesis in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.BMC ophthalmology · 2021Article
- Association of a NovelIranian journal of public health · 2021Article
- Omics analyses in keratoconus: from transcriptomics to proteomics.Current ophthalmology reports · 2020Article
- Association of Genetic Variation With Keratoconus.JAMA ophthalmology · 2020Article
- Do age-related macular degeneration genes show association with keratoconus?Eye and vision (London, England) · 2019Article
- Review
- RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients.Scientific reports · 2018Article
- Article
- Keratoconus: Challenges and Emerging Trends.Journal of molecular and genetic medicine : an international journal of biomedical research · 2018Article
- TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.Investigative ophthalmology & visual science · 2017Article
- Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017Review
- Article
- Genetics in Keratoconus: where are we?Eye and vision (London, England) · 2016Review
- The genetic and environmental factors for keratoconus.BioMed research international · 2015Review
- The pathogenesis of keratoconus.Eye (London, England) · 2014Review
- Genetics of keratoconus: where do we stand?Journal of ophthalmology · 2014Review
- Association ofJournal of ophthalmic & vision researchReview
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 3 institutions in 1 country.
Funding
Abstract
purposeKeratoconus is a common complex corneal ectasia that can lead to severe visual impairment. Although a genetic component is well recognized, the genetic risk factors for keratoconus are yet to be fully elucidated. A recent genome-wide association study (GWAS) by Li et al. identified 15 potentially associated single nucleotide polymorphisms (SNPs). Here, we aimed to replicate these associations, and conduct a meta-analysis of the current and previous studies.
methodsWe genotyped the 15 reported associated SNPs in 524 Australian Caucasian cases with keratoconus and 2761 controls. Association analysis was conducted in PLINK. A meta-analysis of this study with the adjusted P values of the previously published GWAS was conducted using the method of Fisher to combine P values.
resultsOur Australian cohort showed association (P < 0.003) at SNPs near RAB3GAP1, KCND3, IMMPL2, and in a gene desert on chromosome 13q33.3, providing evidence of replication of the published results. The meta-analysis showed SNP rs4954218 near RAB3GAP1 gene was associated significantly with keratoconus, with P = 9.26 × 10(-9) passing the genome-wide significance level.
conclusionsAlthough the mechanism of disease association is yet to be determined, SNP rs4954218 is associated consistently with keratoconus and likely tags a functional variant that contributes to disease susceptibility.
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What 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.