ArticlePLoS genetics2010
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 3 of them syntheses that pooled it.
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Who cites it
76 citing papers in PubMed, 3 syntheses or guidelines pooled it, 153 citations in OpenAlex.
- Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.Nature genetics · 2013Pooled it
- Common genetic determinants of intraocular pressure and primary open-angle glaucoma.PLoS genetics · 2012Pooled it
- Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype.PloS one · 2011Pooled it
- Genome-wide association study of quantitative ocular traits, including axial length and central corneal thickness, identifies loci for refractive error in the Korean population.Genes & genomics · 2026Article
- On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469.FEBS open bio · 2025Article
- Variants in theHeliyon · 2024Article
- Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.BMC ophthalmology · 2024Article
- Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.Nature communications · 2024Article
- Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome.Investigative ophthalmology & visual science · 2023Article
- A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.International ophthalmology · 2023Article
- Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a case report.Journal of medical case reports · 2022Article
- Does brittle cornea syndrome have a bone fragility phenotype?Bone reports · 2021Article
- Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.BMC ophthalmology · 2021Article
- A mouse model of brittle cornea syndrome caused by mutation in Zfp469.Disease models & mechanisms · 2021Article
- Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients.Korean journal of ophthalmology : KJO · 2021Article
- Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.Communications biology · 2020Article
- Article
- Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.Investigative ophthalmology & visual science · 2020Article
- Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients.Scientific reports · 2020Article
- Variable Responses to Corneal Grafts: Insights from Immunology and Systems Biology.Journal of clinical medicine · 2020Review
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 3 countries.
Funding
Abstract
Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058). Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1) had an overall meta-analysis p-value for all the individually genotyped samples of 4.6x10(-10). The locus on chromosome 16 was associated with CCT with p = 8.95x10(-11). The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS), a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population.
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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.