中国骨伤2025，Vol.38Issue(8)：856-866,11.DOI:10.12200/j.issn.1003-0034.20240413
五种自身免疫性疾病与椎间盘退变的因果关系的双向孟德尔随机化研究
Causal relationship between five autoimmune diseases and intervertebral disc degeneration:a bidirectional Mendelian analysis
摘要
Abstract
Objective To explore the potential causal relationship between intervertebral disc degeneration and certain autoimmune diseases.Methods Genome-wide association study(GWAS)data of 5 autoimmune diseases were obtained from large-scale GWAS databases.Data on internal vertebral disc degeneration(IVDD)were derived from the FinnGen consortium,which included 294,770 controls and 41,669 cases.A two-sample bidirectional Mendelian randomization(MR)analysis was performed to investigate the potential causal relationship between the 5 autoimmune diseases and IVDD.Multiple analyti-cal methods were adopted,including MR methods such as inverse variance weighting(IVW),MR-Egger,weighted median,weighted mode,and simple mode.Cochran's Q test,leave-one-out analysis,and MR-Egger intercept test were conducted to as-sess heterogeneity,robustness,and pleiotropy.For the robustness of the results,MR-PRESSO was used to detect outliers,and MR analysis was re-conducted after removing the outliers.Results The MR analysis results showed that there might be a bidi-rectional causal relationship between ankylosing spondylitis(AS)and IVDD:AS on IVDD,OR=1.038,95％CI(1.024,1.053),P=0.000;and IVDD on AS,OR=2.117,95％CI(1.065,4.207),P=0.032.There might be a positive correlation between IVDD and rheumatoid arthritis(RA)as well as systemic lupus erythematosus(SLE):IVDD on RA,OR=1.184,95％CI(1.071,1.309),P=0.001;and IVDD on SLE,OR=1.678,95％CI(1.187,2.372),P=0.003.There was no significant correlation between ulcera-tive colitis(UC),autoimmune thyroiditis(ATD)and IVDD.After removing outliers by MR-PRESSO and re-conducting MR analysis,the results did not change qualitatively.Sensitivity analysis indicated that the results were robust to potential sources of bias.Conclusion AS and IVDD may be risk factors for each other,and IVDD may be a potential risk factor for RA and SLE.These findings provide a basis for guiding the prevention and combined diagnosis and treatment of IVDD,AS,RA,and SLE,while the specific underlying mechanisms still require further experimental basic research.关键词
椎间盘退变/孟德尔随机化/自身免疫性疾病/免疫特权/因果推断Key words
Disc degeneration/Mendelian randomization/Autoimmune disease/Immune privilege/Causal in-ference分类
医药卫生引用本文复制引用
张宝飞,尹逊路,黄泽灵,裴帅,李宇卫..五种自身免疫性疾病与椎间盘退变的因果关系的双向孟德尔随机化研究[J].中国骨伤,2025,38(8):856-866,11.基金项目
国家自然科学基金面上项目(编号:82174399)National Natural Science Foundation of China General Project(No.82174399) （编号:82174399）
