ArticleEuropean journal of human genetics : EJHG2021
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Impact of the loss of tenascin X on tissue architecture and wound healing of the murine corneal stroma.The ocular surface · 2026Article
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- Ophthalmic Implications of Ehlers-Danlos Syndrome.Clinical ophthalmology (Auckland, N.Z.) · 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
- Keratoconus: The Local Manifestation of a Systemic Disease?Journal of clinical medicine · 2025Review
- Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.Molecular vision · 2025Article
- Keratoconus.Nature reviews. Disease primers · 2024Article
- Systemic and Ocular Associations of Keratoconus.Expert review of ophthalmology · 2024Article
- Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.Genes · 2023Article
- Systemic Associations with Keratoconus.Life (Basel, Switzerland) · 2023Review
- The Underlying Relationship between Keratoconus and Down Syndrome.International journal of molecular sciences · 2022Review
- Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- Genomics elucidates both common and rare disease aetiology.European journal of human genetics : EJHG · 2021Article
- A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.Calcified tissue international · 2021Article
- Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.BMC ophthalmology · 2021Article
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Authors and funding
13 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The involvement of genetic factors in the pathogenesis of KC has long been recognized but the identification of variants affecting the underlying protein functions has been challenging. In this study, we selected 34 candidate genes for KC based on previous whole-exome sequencing (WES) and the literature, and resequenced them in 745 KC patients and 810 ethnically matched controls from Belgium, France and Italy. Data analysis was performed using the single variant association test as well as gene-based mutation burden and variance components tests. In our study, we detected enrichment of genetic variation across multiple gene-based tests for the genes COL2A1, COL5A1, TNXB, and ZNF469. The top hit in the single variant association test was obtained for a common variant in the COL12A1 gene. These associations were consistently found across independent subpopulations. Interestingly, COL5A1, TNXB, ZNF469 and COL12A1 are all known Ehlers-Danlos Syndrome (EDS) genes. Though the co-occurrence of KC and EDS has been reported previously, this study is the first to demonstrate a consistent role of genetic variants in EDS genes in the etiology of KC. In conclusion, our data show a shared genetic etiology between KC and EDS, and clearly confirm the currently disputed role of ZNF469 in disease susceptibility for KC.
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