Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 30894546.
- Also identified by DOI 10.1038/s41467-019-09304-9 and PMC identifier 6427039.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
The corneal endothelium is vital for transparency and proper hydration of the cornea. Here, we conduct a genome-wide association study of corneal endothelial cell density (cells/mm<sup>2</sup>), coefficient of cell size variation (CV), percentage of hexagonal cells (HEX) and central corneal thickness (CCT) in 6,125 Icelanders and find associations at 10 loci, including 7 novel. We assess the effects of these variants on various ocular biomechanics such as corneal hysteresis (CH), as well as eye diseases such as glaucoma and corneal dystrophies. Most notably, an intergenic variant close to ANAPC1 (rs78658973[A], frequency = 28.3%) strongly associates with decreased cell density and accounts for 24% of the population variance in cell density (β = -0.77 SD, P = 1.8 × 10<sup>-314</sup>) and associates with increased CH (β = 0.19 SD, P = 2.6 × 10<sup>-19</sup>) without affecting risk of corneal diseases and glaucoma. Our findings indicate that despite correlations between cell density and eye diseases, low cell density does not increase the risk of disease.
Medical subject headings
- Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome
- Corneal Dystrophies, Hereditary
- Endothelium, Corneal
- Glaucoma
- Polymorphism, Genetic