Corneal hysteresis and corneal resistance factor are parameters which reflect the dynamic biomechanical properties of the cornea and have been shown to be biomarkers of corneal disease. In this genome-wide association study of over 100 000 participants we identified over 200 genetic loci, all but eight novel, significantly associated with either one or both of these traits. In addition to providing key insights into the genetic architecture underlying normal corneal function, these results identify many candidate loci in the study of corneal diseases that lead to severe visual impairment. Additionally, using Mendelian randomisation we were able to identify causal relationships between corneal biomechanics and intraocular pressure measurements which help elucidate the relationship between corneal properties and glaucoma.

中文翻译：

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角膜生物力学特性的全基因组关联研究确定了 200 多个位点，从而深入了解眼部疾病的遗传病因。

角膜滞后和角膜阻力因子是反映角膜动态生物力学特性的参数，并且已被证明是角膜疾病的生物标志物。在这项对超过 100 000 名参与者进行的全基因组关联研究中，我们确定了 200 多个基因位点，除了 8 个新基因位点外，所有基因位点都与这些特征中的一个或两个显着相关。除了提供对正常角膜功能背后的遗传结构的关键见解外，这些结果还确定了导致严重视力障碍的角膜疾病研究中的许多候选基因座。此外，使用孟德尔随机化，我们能够确定角膜生物力学和眼压测量之间的因果关系，这有助于阐明角膜特性和青光眼之间的关系。