Communications Biology (Dec 2020)

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

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

DOI
https://doi.org/10.1038/s42003-020-01497-w
Journal volume & issue
Vol. 3, no. 1
pp. 1 – 12

Abstract

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Here, the authors report a genome-wide association analysis for corneal resistance factor (CRF), a measure of corneal biomechanical properties relevant to a number of corneal diseases. They identify 135 loci associated with CRF and use fine-mapping and ATAC-seq in human cornea cell lines to identify putative causal variants affecting gene expression.