孟德尔随机化在葡萄膜炎研究中的进展及应用

Progress and application of Mendelian randomization in uveitis research

摘要

葡萄膜炎的疾病进程与免疫细胞亚群、维生素D水平、肠道菌群、炎症因子水平等多种因素相关。然而，传统的临床观察性研究在因果关系的推断上易受混杂因素干扰，难以明确因果关系。因此，有必要引入其他的因果推断方法，以验证这些潜在因素与疾病发生发展的真实关联。孟德尔随机化（Mendelian randomization，MR）作为一种新兴的因果推断方法，近年来在葡萄膜炎病因学研究中得到广泛应用。该方法以遗传变异为工具变量，有效克服了传统观察性研究中存在的混杂偏倚与反向因果问题。在关于葡萄膜炎的研究中，MR分析亦在中介效应分析、多变量整合及药物靶点筛选方面展现出重要价值。

Abstract

Clinical studies have indicated that the disease progression of uveitis may be associated with multiple factors，including immune cell subsets，vitamin D levels，gut microbiota，and inflammatory cytokines levels. However，traditional clinical observational studies are susceptible to confounding factors when inferring causality，making it difficult to establish definitive causal relationships. Therefore，it is necessary to introduce alternative causal inference methods to validate the true associations between these potential factors and the onset and progression of the disease. Mendelian randomization（MR），as an emerging causal inference approach，has been widely applied in recent years to investigate the etiology of uveitis. By using genetic variants as instrumental variables，this method effectively overcomes the confounding bias and reverse causation issues inherent in traditional observational studies. In the context of uveitis research，MR analysis has also demonstrated significant value in mediation analysis，multivariable integration，and drug target prioritization.

关键词

葡萄膜炎 / 孟德尔随机化 / 因果推断 / 单核苷酸多态性 / 中介效应

Key words

uveitis / Mendelian randomization / causal inference / single nucleotide polymorphisms / mediating effect

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基金资助

南京市卫生科技发展专项资金资助项目(YKK23112)