deCODE genetics/Amgen, Reykjavik, Iceland.
School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
Nat Commun. 2019 Mar 20;10(1):1284. doi: 10.1038/s41467-019-09304-9.
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), 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) and associates with increased CH (β = 0.19 SD, P = 2.6 × 10) 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.
角膜内皮对于角膜的透明性和适当的水合作用至关重要。在这里，我们对 6125 名冰岛人的角膜内皮细胞密度（细胞/平方毫米）、细胞大小变异系数（CV）、六角形细胞百分比（HEX）和中央角膜厚度（CCT）进行了全基因组关联研究，在 10 个位置发现了关联，包括 7 个新的关联。我们评估了这些变体对各种眼生物力学的影响，如角膜滞后（CH），以及青光眼和角膜营养不良等眼部疾病。值得注意的是，一个位于 ANAPC1 附近的基因间变体（rs78658973[A]，频率=28.3%）与细胞密度降低强烈相关，占细胞密度人群变异的 24%（β=-0.77 SD，P=1.8×10），并与 CH 增加相关（β=0.19 SD，P=2.6×10），而不影响角膜疾病和青光眼的风险。我们的研究结果表明，尽管细胞密度与眼部疾病之间存在相关性，但低细胞密度并不会增加疾病的风险。
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