Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Sci Rep. 2023 Jun 20;13(1):9984. doi: 10.1038/s41598-023-37144-7.
Primary open angle glaucoma (POAG) is a chronic, adult-onset optic neuropathy associated with characteristic optic disc and/or visual field changes. With a view to identifying modifiable risk factors for this common neurodegenerative condition, we performed a 'phenome-wide' univariable Mendelian randomisation (MR) study that involved analysing the relationship between 9661 traits and POAG. Utilised analytical approaches included weighted mode based estimation, the weighted median method, the MR Egger method and the inverse variance weighted (IVW) approach. Eleven traits related to POAG risk were identified including: serum levels of the angiopoietin-1 receptor (OR [odds ratio] = 1.11, IVW p = 2.34E-06) and the cadherin 5 protein (OR = 1.06, IVW p = 1.31E-06); intraocular pressure (OR = 2.46-3.79, IVW p = 8.94E-44-3.00E-27); diabetes (OR = 5.17, beta = 1.64, IVW p = 9.68E-04); and waist circumference (OR = 0.79, IVW p = 1.66E-05). Future research focussing on the effects of adiposity, cadherin 5 and angiopoietin-1 receptor on POAG development and progression is expected to provide key insights that might inform the provision of lifestyle modification advice and/or the development of novel therapies.
原发性开角型青光眼（POAG）是一种慢性、成人发病的视神经病变，与特征性视盘和/或视野改变有关。为了确定这种常见神经退行性疾病的可改变风险因素，我们进行了一项“表型全基因组”单变量孟德尔随机化（MR）研究，该研究分析了 9661 种特征与 POAG 之间的关系。所采用的分析方法包括加权模式估计、加权中位数法、MR Egger 法和逆方差加权（IVW）法。确定了 11 个与 POAG 风险相关的特征，包括：血管生成素-1 受体（ANGPT1R）的血清水平（比值比 [OR] = 1.11，IVW p = 2.34E-06）和钙黏蛋白 5 蛋白（CDH5）（OR = 1.06，IVW p = 1.31E-06）；眼内压（OR = 2.46-3.79，IVW p = 8.94E-44-3.00E-27）；糖尿病（OR = 5.17，β = 1.64，IVW p = 9.68E-04）；和腰围（OR = 0.79，IVW p = 1.66E-05）。未来聚焦于肥胖、钙黏蛋白 5 和血管生成素 1 受体对 POAG 发展和进展的影响的研究，有望提供关键的见解，为提供生活方式改变建议和/或开发新疗法提供信息。
