Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

Erna V. Ivarsdottir, Stefania Benonisdottir, Gudmar Thorleifsson, Patrick Sulem, Asmundur Oddsson, Unnur Styrkarsdottir, Snaedis Kristmundsdottir, Gudny A. Arnadottir, Gudmundur Thorgeirsson, Ingileif Jonsdottir, Gunnar M. Zoega, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Fridbert Jonasson, Hilma Holm () and Kari Stefansson ()
Additional contact information
Erna V. Ivarsdottir: deCODE genetics/Amgen
Stefania Benonisdottir: deCODE genetics/Amgen
Gudmar Thorleifsson: deCODE genetics/Amgen
Patrick Sulem: deCODE genetics/Amgen
Asmundur Oddsson: deCODE genetics/Amgen
Unnur Styrkarsdottir: deCODE genetics/Amgen
Snaedis Kristmundsdottir: deCODE genetics/Amgen
Gudny A. Arnadottir: deCODE genetics/Amgen
Gudmundur Thorgeirsson: deCODE genetics/Amgen
Ingileif Jonsdottir: deCODE genetics/Amgen
Gunnar M. Zoega: Landspitali, The National University Hospital of Iceland
Unnur Thorsteinsdottir: deCODE genetics/Amgen
Daniel F. Gudbjartsson: deCODE genetics/Amgen
Fridbert Jonasson: University of Iceland
Hilma Holm: deCODE genetics/Amgen
Kari Stefansson: deCODE genetics/Amgen

Nature Communications, 2019, vol. 10, issue 1, 1-10

Abstract: 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/mm2), 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 × 10−314) and associates with increased CH (β = 0.19 SD, P = 2.6 × 10−19) 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.

Date: 2019
References: Add references at CitEc
Citations: View citations in EconPapers (3)

Downloads: (external link)
https://www.nature.com/articles/s41467-019-09304-9 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-09304-9

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-019-09304-9

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().