孟德尔随机化研究:谷氨酰胺如何降低晚发型重症肌无力风险?

2小时前 MedSci xAi 发表于广东省
本研究通过孟德尔随机化分析发现遗传预测的谷氨酰胺水平与晚发型重症肌无力风险呈显著负相关,OR=0.64,同时验证瓜氨酸、睾酮的保护作用及乳酸的风险效应,为代谢物在MG发病机制中的因果角色提供遗传证据。
Results: Genetically predicted glutamine levels were significantly negatively associated with the risk of LOMG (IVW: OR = 0.64, 95% CI: 0.46 to 0.87, P = 0.005). The results were robust using weighted median and leave-one-out analyses, with no evidence of horizontal pleiotropy (MR-Egger intercept P = 0.350). Bayesian colocalization analysis identified moderate support for a shared causal variant at the rs2039098 locus (PP4 = 0.645), with lower support for different causal variants (PP3 = 0.112). Citrulline was also negatively associated with LOMG (OR = 0.001, P = 0.009), and testosterone with MG (OR = 0.30, P = 0.043); however, these associations were limited by a small number of instrumental variables or inconsistent results. Lactate was significantly positively associated with the risk of MG (OR = 5.21, P = 0.031).
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