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Article

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Communications biology - 11 Dec 2020

Jiang Xinyi, Dellepiane Nefeli, Pairo-Castineira Erola, Boutin Thibaud, Kumar Yatendra, Bickmore Wendy A, Vitart Veronique

Abstract excerpt

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...

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Identifiers

PMID: 33311554
DOI: 10.1038/s42003-020-01497-w
PMCID: PMC7732848

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