rs9938149

This variant is located in the ZNF469 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

corneal topography

Lu Y et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nature Genetics 45(2):155-63 (2013)

Allele A

OR 0.17

p 2.0e-49

N 20,020

Large GWAS

multi-ancestry

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)

Allele C

OR 0.14

p 4.0e-24

N 115,486

Large GWAS

European

eye measurement

René Hoehn et al. “Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness” Human Genetics (2012)

Allele A

OR 0.16

p 1.0e-12

N 3,931

Meta-analysis

European

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Research that mentions this SNP (1)

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Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

Meta-analysisN=5,349René Hoehn et al.(2012)· Human Genetics

A population-based meta-analysis of 5,349 Caucasians from the Gutenberg Health Study and Rotterdam Study confirms genome-wide significant associations with central corneal thickness (CCT) at the ZNF469 locus on 16q24 (rs9938149, β=5.5 μm, P=1.45×10⁻¹²) and COL5A1 locus on 9q34 (rs3132306, β=5.1 μm, P=2.71×10⁻¹⁰), but does not confirm the COL8A2 locus previously reported in Asian populations, suggesting ethnic-specific genetic influences on CCT.

Traits studied:Central corneal thickness (CCT)Open-angle glaucoma

PubMed DOI Metascience Observatory

About ZNF469

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]