rs10854389 - ETS2, ETS2-AS1
Magnitude 2.2 · 1 study on file
Reported associations
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Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants - Unknown journal (n.d.) · Unknown authors · PubMed 33311554
ABSTRACT: Corneal resistance factor (CRF) is altered during corneal diseases progression. Genome-wide-association studies (GWAS) indicated potential CRF and disease genetics overlap. Here, we characterise 135 CRF loci following GWAS in 76029 UK Biobank participants. Enrichment of extra-cellular matrix gene-sets, genetic correlation with corneal thickness (70% (SE = 5%)), reported keratoconus risk variants at 13 loci, all support relevance to corneal stroma biology. Fine-mapping identifies a subset of 55 highly likely causal variants, 91% of which are non-coding. Genomic features enrichments, using all associated variants, also indicate prominent regulatory causal role. We newly established open chromatin landscapes in two widely-used human cornea immortalised cell lines using ATAC-seq.
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Corneal biomechanics assessment before refractive surgery Moderate
Reduced corneal resistance from ETS2 variant affects LASIK/PRK outcomes and ectasia risk
Obtain corneal resistance factor measurement before elective refractive surgery
Screening
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Glaucoma risk screening from age 40 Moderate
ETS2 rs10854389 risk allele associated with reduced corneal resistance, a key glaucoma risk factor
Baseline intraocular pressure and visual field testing; repeat every 1-2 years