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

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


Title: Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
Author: Ívarsdóttir, Erna V.
Benonisdottir, Stefania   orcid.org/0000-0001-5019-514X
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
Sulem, Patrick   orcid.org/0000-0001-7123-6123
Oddsson, Asmundur   orcid.org/0000-0002-4606-5163
Styrkarsdottir, Unnur   orcid.org/0000-0001-8146-8278
Kristmundsdóttir, Snædís   orcid.org/0000-0001-8981-0883
Arnadottir, Gudny   orcid.org/0000-0001-6571-423X
Thorgeirsson, Gudmundur   orcid.org/0000-0002-7146-1395
Jonsdottir, Ingileif   orcid.org/0000-0001-8339-150X
... 6 more authors Show all authors
Date: 2019-03-20
Language: English
Scope: 1284
University/Institute: Háskóli Íslands
University of Iceland
School: School of Engineering and Natural Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Nature Communications;10(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-019-09304-9
Subject: Corneal diseases; Genome-wide association studies; Population genetics; Augnsjúkdómar; Gláka; Erfðarannsóknir
URI: https://hdl.handle.net/20.500.11815/1576

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Citation:

Ivarsdottir, E.V., Benonisdottir, S., Thorleifsson, G. et al. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density. Nat Commun 10, 1284 (2019). https://doi.org/10.1038/s41467-019-09304-9

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.

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Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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