基于孟德尔随机化的25羟维生素D与抽动障碍因果关联研究
目的 研究25羟维生素D25-hydroxyvitamin D,25(OH)D与抽动障碍(Tic Disorder,TD)的因果关系。方法 本研究进行了双样本孟德尔随机化(Two-sample Mendelian randomization,TSMR)分析,以论证25(OH)D与TD的因果关系。从公开的全基因组关联研究(genome-wide association studies,GWAS)数据集选择与暴露和结局相关的单核苷酸多态性(single nucleotide polymorphism,SNP)。本研究将25(OH)D作为暴露因素,TD作为结局因素,采用逆方差加权法(inverse variance weighted,IVW)、为主要分析方法,利用Rstudio软件进行数据分析和可视化处理。结果 正向孟德尔随机化(Mendelian randomization,MR)分析纳入75个25(OH)D的SNP,IVW的结果显示血清25(OH)D水平对TD的影响无统计学意义(P=0.3427),而MR-Egger法(P=0.9170)、加权模式(WM)法(P=0.6378)、加权中位数(WME)法(P=0.3445)均未发现25(OH)D对TD的影响具有统计学意义。反向MR分析纳入5个TD的SNP,IVW结果显示TD对血清25(OH)D水平的影响无统计学意义(P=0.1257)。而MR-Egger法(P=0.2371)、WM法(P=0.1091)、WME法(P=0.1870)结果均显示TD与血清25(OH)D水平无因果关联(P>0.05)。结论 本研究未发现血清25(OH)D水平与TD存在因果关系。
Objective To explore the causal relationship between 25-hydroxyvitamin D 25(OH)D and tic disorder (TD). Methods A two sample Mendelian randomization (TSMR) analysis was conducted to explore the causal relationship between 25(OH)D and TD. Single nucleotide polymorphisms (SNP) associated with exposure and outcome were selected from the genome-wide association studies (GWAS) datasets of the publicly gene databases.25(OH)D was taken as the exposure, its single nucleotide polymorphism (SNP) as instrumental variables, and TD as the outcome variable. Causal inferences were made through inverse variance weighted (IVW).Data analysis and visualization were processed by Rstudio software. Results In the forward Mendelian randomization (MR) analysis, 75 SNPs of 25(OH) D were included. The effect evaluation results of the IVW method showed that the influence of 25(OH)D on TD was not statistically significant (P=0.3427). In addition, neither the MR-Egger method (P=0.9170), WM method(P=0.6378) , nor the WME(P=0.3445) found that the influence of 25(OH)D on TD was statistically significant. Reverse MR analysis included 5 SNPs of TD, and the effect evaluation results of IVW method showed that TD had no statistically significant effect on 25 (OH) D (P=0.1257). In addition, the results of MR-Egger method (P=0.2371), WM method (P=0.1091), and WME method (P=0.1870) all showed no causal relationship between TD and 25 (OH) D(P>0.05). Conclusion Don’t find a causal relationship between 25(OH)D and TD.
任益龙、蒋春明
浙江中医药大学第四临床医学院儿科杭州市第一人民医院儿内科
医学研究方法遗传学
25羟维生素D抽动障碍孟德尔随机化因果关系芬兰数据库
25(OH)DMendelian randomizationausal relationshipFinngen
任益龙,蒋春明.基于孟德尔随机化的25羟维生素D与抽动障碍因果关联研究[EB/OL].(2025-05-21)[2025-08-18].https://www.biomedrxiv.org.cn/article/doi/bmr.202507.00007.点此复制
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