Ao Zhong, Fangyang Yu, Chuyue Xia, Xiang Ma, Qiucheng Zhu, Peilin Du, Ruonan Wang, Si Jin
Overall, the results support an association between genetically predicted erythritol levels and ischemic stroke and identify candidate pathways and genes for further investigation; the MR exposure should not be interpreted as direct evidence that dietary erythritol intake causes stroke.
Erythritol is a widely used low-calorie sugar substitute, but its relationship with cerebrovascular risk remains uncertain. We investigated the association between genetically predicted erythritol levels and ischemic stroke and explored stroke-related molecular features using an integrative bioinformatics framework. Two-sample and multivariable Mendelian randomization were performed across cardiovascular-kidney-metabolic outcomes, followed by target prediction, enrichment and protein-protein interaction analyses, transcriptomic profiling, machine-learning feature selection, SHAP interpretation, immune-cell analysis, gene set variation analysis, and exploratory molecular docking. Genetically predicted erythritol showed the strongest association with stroke among the tested sweetener-related traits (OR = 1.246, 95% CI: 1.101-1.410, p < 0.001) and remained significant after adjustment for selected hemodynamic, glycometabolic, and lipid-related traits. Downstream analyses highlighted inflammatory, oxidative-stress, hypoxic, and vascular-injury pathways and prioritized MMP9, TLR4, and HIF1A as a reproducible stroke-related three-gene signature. These downstream bioinformatic findings are exploratory and do not establish erythritol-specific molecular regulation. Overall, the results support an association between genetically predicted erythritol levels and ischemic stroke and identify candidate pathways and genes for further investigation; the MR exposure should not be interpreted as direct evidence that dietary erythritol intake causes stroke.