ArticleInvestigative ophthalmology & visual science2011
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
66 citing papers in PubMed, 4 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Communications biology · 2021Pooled it
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA).Annals of human genetics · 2015Pooled it
- Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.Nature genetics · 2013Pooled it
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- Proteomic Analysis Provides Insights Into PPIP5K2 Function and Its Impact on Corneal Energy Metabolism.Investigative ophthalmology & visual science · 2025Article
- Keratoconus: The Local Manifestation of a Systemic Disease?Journal of clinical medicine · 2025Review
- Keratoconus.Nature reviews. Disease primers · 2024Article
- Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study.Investigative ophthalmology & visual science · 2024Article
- Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.BMC ophthalmology · 2024Article
- Investigation of Potential Crucial Genes and Key Pathways in Keratoconus: An Analysis of Gene Expression Omnibus Data.Biochemical genetics · 2023Article
- Review
- Animal Models for the Study of Keratoconus.Cells · 2023Review
- Big data in corneal diseases and cataract: Current applications and future directions.Frontiers in big data · 2023Review
- Potential underlying genetic associations between keratoconus and diabetes mellitus.Advances in ophthalmology practice and research · 2021Article
- Risk factors and association with severity of keratoconus: the Australian study of Keratoconus.International ophthalmology · 2021Article
- Corneal epithelial thickness analysis of forme fruste keratoconus with optical coherence tomography.International journal of ophthalmology · 2021Article
- Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.International journal of ophthalmology · 2021Article
- Association of Genetic Variation With Keratoconus.JAMA ophthalmology · 2020Article
- Further evaluation of differential expression of keratoconus candidate genes in human corneas.PeerJ · 2020Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 9 institutions in 3 countries.
Funding
Abstract
purposeKeratoconus is a progressive disorder of the cornea that can lead to severe visual impairment or blindness. Although several genomic regions have been linked to rare familial forms of keratoconus, no genes have yet been definitively identified for common forms of the disease.
methodsTwo genome-wide association scans were undertaken in parallel. The first used pooled DNA from an Australian cohort, followed by typing of top-ranked single-nucleotide polymorphisms (SNPs) in individual DNA samples. The second was conducted in individually genotyped patients, and controls from the USA. Tag SNPs around the hepatocyte growth factor (HGF) gene were typed in three additional replication cohorts. Serum levels of HGF protein in normal individuals were assessed with ELISA and correlated with genotype.
resultsThe only SNP observed to be associated in both the pooled discovery and primary replication cohort was rs1014091, located upstream of the HGF gene. The nearby SNP rs3735520 was found to be associated in the individually typed discovery cohort (P = 6.1 × 10(-7)). Genotyping of tag SNPs around HGF revealed association at rs3735520 and rs17501108/rs1014091 in four of the five cohorts. Meta-analysis of all five datasets together yielded suggestive P values for rs3735520 (P = 9.9 × 10(-7)) and rs17501108 (P = 9.9 × 10(-5)). In addition, SNP rs3735520 was found to be associated with serum HGF level in normal individuals (P = 0.036).
conclusionsTaken together, these results implicate genetic variation at the HGF locus with keratoconus susceptibility.
Indexed as
Identifiers
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.