Ontology highlight
ABSTRACT:
SUBMITTER: Jiang X
PROVIDER: S-EPMC7732848 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Jiang Xinyi X Dellepiane Nefeli N Pairo-Castineira Erola E Boutin Thibaud T Kumar Yatendra Y Bickmore Wendy A WA Vitart Veronique V
Communications biology 20201211 1
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 h ...[more]