临床与病理杂志2025，Vol.45Issue(2)：138-148,11.DOI:10.11817/j.issn.2095-6959.2025.240992
磷脂酰胆碱与食管癌发生的因果关系:一项孟德尔随机化研究
Causal relationship between phosphatidylcholine and esophageal cancer risk:A Mendelian randomization study
摘要
Abstract
Objective:Abnormal lipid metabolism may be associated with the development of esophageal cancer(EC),but the causal relationship remains unclear.This study aims to explore the potential causal association between blood lipids and EC using Mendelian Randomization(MR). Methods:Publicly available genome-wide association study(GWAS)datasets were used to select appropriate single nucleotide polymorphisms(SNPs)as instrumental variables.A two-sample MR analysis was conducted using data on 179 lipid traits from the GeneRISK cohort(7 174 Finnish individuals)and EC cases(196 individuals of European ancestry with 456 080 controls).The inverse-variance weighted(IVW)method was used as the primary analysis to assess causal effects,supplemented by MR-Egger,weighted median(WM),simple mode,and weighted mode methods.Heterogeneity was assessed using Cochran's Q test,outliers were identified and removed via MR-PRESSO,and pleiotropy was tested using MR-PRESSO and the MR-Egger intercept.A leave-one-out sensitivity analysis was performed to test result robustness. Results:The IVW method showed a positive causal association between phosphatidylcholine(O-16:1_20:4)and EC risk(OR=2.339,95%CI 1.573 to 3.479,P<0.001).No heterogeneity was detected by Cochran's Q test,no outliers were identified by MR-PRESSO,and no horizontal pleiotropy was detected using the MR-PRESSO and MR-Egger intercept.The leave-one-out sensitivity analysis supported the robustness of the findings.Reverse MR analysis revealed no causal association from EC to lipid traits. Conclusion:Elevated levels of Phosphatidylcholine(O-16:1_20:4)increase the risk of EC.关键词
孟德尔随机化/脂质/磷脂酰胆碱/食管癌/全基因组关联分析Key words
Mendelian randomization/lipids/phosphatidylcholine/esophageal cancer/genome-wide association study引用本文复制引用
赵心怡,梁宇哲,刘泓娇,谭格轩,许斌,宋启斌..磷脂酰胆碱与食管癌发生的因果关系:一项孟德尔随机化研究[J].临床与病理杂志,2025,45(2):138-148,11.基金项目
国家自然科学基金(82203502).This work was supported by the National Natural Science Foundation of China(82203502). （82203502）
