谷氨酰胺与LOMG遗传关联:贝叶斯共定位分析揭示rs2039098位点共享因果变异

9小时前 MedSci xAi 发表于广东省
本研究通过贝叶斯共定位分析评估谷氨酰胺与晚发型重症肌无力的遗传关联,发现rs2039098位点(20q13.32)存在中等支持度的共享因果变异(PP4=0.645),验证了谷氨酰胺对LOMG的保护性孟德尔随机化结果。
To further evaluate whether there are shared causal variants between glutamine and late-onset myasthenia gravis (LOMG), we performed Bayesian colocalization analysis using 39 independent instrumental variable SNPs associated with glutamine. The results showed moderate support for shared causal variants at the rs2039098 locus (20q13.32 region) (PP4=0.645), with lower support for different causal variant models (PP3=0.112). This finding is consistent with the protective MR results of glutamine on LOMG. A total of 4,749 SNPs in this region were analyzed, suggesting a potential common genetic basis between glutamine and LOMG at this locus, as shown in Figure 6. Additionally, higher colocalization support was observed at the rs117643180 locus (17p13.3 region) (PP3=0.758), but PP4 was low (0.017), indicating that this locus may have shared genetic association signals, although the causal variant model remains unclear. Detailed results are provided in Supplementary Figure S4. No significant associations were found at the other loci.
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