山西医科大学学报2025，Vol.56Issue(4)：445-451,7.DOI:10.13753/j.issn.1007-6611.2025.04.014
儿童先天性心脏病与癫痫因果关系的双向孟德尔随机化研究
Bidirectional Mendelian randomization study of causality between congenital heart disease and epilepsy in children
摘要
Abstract
Objective To investigate the causal relationship between congenital heart disease(CHD)and epilepsy in children.Methods Genetic loci closely associated with three types of congenital heart disease in children were selected as instrumental vari-ables in European population.The inverse-variance weighted(IVW)method was employed as the primary approach to conduct two-sample Mendelian randomization(TSMR)analysis.The odds ratio(OR)was used to evaluate the causal relationship between the two conditions.Cochran's Q test was employed to detect the heterogeneity,and MR-Egger regression was utilized to assess the pleiotropy.Results The IVW results demonstrated a causal relationship between atrial septal defect(ASD)and epilepsy(EP),with a 6%in-creased risk of epilepsy in individuals with ASD compared to those without ASD(OR=1.066,95%CI:1.011-1.124,P=0.017).MR-Egger regression revealed minimal likelihood of horizontal pleiotropy influences on the result(intercept=0.013,SE=0.018,P=0.489)Cochran's Q test demonstrated that the results showed low heterogeneity(P>0.05).Sensitivity analysis confirmed the reliability and sta-bility of the findings.IVW results showed there was no causal relationship between aortic stenosis(AS)(OR=1.029,95%CI:0.948-1.118,P=0.494)or congenital heart and great artery malformations(GA)(OR=1.055,95%CI:0.939-1.185,P=0.366)with epi-lepsy.Conclusion Atrial septal defect is a risk factor for epilepsy and positively associated with epilepsy.关键词
儿童/先天性心脏病/房间隔缺损/癫痫/因果关系/孟德尔随机化Key words
children/congenital heart disease/atrial septal defect/epilepsy/causal relationship/Mendelian randomization分类
医药卫生引用本文复制引用
刘乃需,张笑涵,丁雅荔,徐秋月,袁斌..儿童先天性心脏病与癫痫因果关系的双向孟德尔随机化研究[J].山西医科大学学报,2025,56(4):445-451,7.基金项目
国家自然科学基金资助项目(82305144) （82305144）
江苏省高校自然科学基金项目(23KJB360004) （23KJB360004）
南京中医药大学自然科学基金项目(XPT82305144) （XPT82305144）
