血液及尿液生物标记物与原发性青光眼双向孟德尔随机化研究  

A bidirectional Mendelian randomization study on blood and urine biomarkers and primary glaucoma

作　　者：郝天琦 刘龙[1,2] HAO Tian-qi;LIU Long(Department of Health Statistics,Shanxi Medical University,Taiyuan,Shanxi 030000,China;不详)

机构地区：[1]山西医科大学卫生统计学教研室,太原030000 [2]重大疾病风险评估山西省重点实验室

出　　处：《现代预防医学》2024年第24期4435-4439,共5页Modern Preventive Medicine

基　　金：山西省基础研究计划面上项目(202403021211145)。

摘　　要：目的利用孟德尔随机化分析探讨血液及尿液生物标志物与原发性青光眼遗传风险之间的关联。方法本研究使用了大规模全基因组关联分析的汇总数据,筛选出合适的工具变量,主要采用逆方差加权法进行分析。通过Cochran Q统计量、MR-Egger回归的截距项、MR-PRESSO以及leave-one-out法对结果进行了验证。结果MR分析结果显示,总蛋白(IVW:OR=1.399,95%CI:1.000~1.958,P=0.049)、糖化血红蛋白(IVW:OR=0.650,95%CI:0.512~0.824,P<0.001)和葡萄糖(IVW:OR=0.587,95%CI:0.368~0.938,P=0.026)均与原发性青光眼之间存在因果关系。反向MR分析进一步发现原发性闭角型青光眼与总蛋白之间存在因果关系(IVW:OR=0.990,95%CI:0.980~0.999,P=0.045)。总蛋白和原发性闭角型青光眼之间存在双向因果关系。所得结果通过验证,未发现异质性与水平多效性。结论总蛋白可能是原发性闭角型青光眼的潜在危险因素,糖化血红蛋白和葡萄糖可能是原发性开角型青光眼的保护因素。总蛋白和白蛋白是原发性闭角型青光眼的的潜在生物标志物。本研究提供了可进一步研究的生物标志物信息,为青光眼的早期诊断、个性化治疗和预防提供了新的见解与策略。Objective To investigate the association between blood and urine biomarkers and genetic risks of primary glaucoma using Mendelian randomization analysis.Methods This study utilized summary data from large-scale genome-wide association studies to extract eligible instrumental variables and primarily employed the inverse variance weighted(IVW)method for analysis.The results were validated through Cochran’s Q statistic,MR-Egger regression intercept,MR-PRESSO,and the leave-one-out method.Results MR analysis showed that the total protein(IVW:OR=1.399,95%CI:1.000-1.958,P=0.049),glycated hemoglobin(IVW:OR=0.650,95%CI:0.512-0.824,P<0.001),and glucose(IVW:OR=0.587,95%CI:0.368-0.938,P=0.026)were causally related to primary glaucoma.Reverse MR analysis further found a causal relationship between primary angle-closure glaucoma and total protein(IVW:OR=0.990,95%CI:0.980-0.999,P=0.045),indicating a bidirectional causal relationship between total protein and primary angle-closure glaucoma.The results were validated without finding heterogeneity or horizontal pleiotropy.Conclusion Total protein may be a potential risk factor for primary angle-closure glaucoma,while glycated hemoglobin and glucose may serve as protective factors against primary open-angle glaucoma.Total protein and albumin are potential biomarkers for primary angle-closure glaucoma.This study provides information on biomarkers that can be further investigated,offering new insights and strategies for the early diagnosis,personalized treatment,and prevention of glaucoma.

关 键 词：原发性青光眼 生物标志物 孟德尔随机化 因果推断 

分 类 号：R775.2[医药卫生—眼科]