首页|盆腔炎性疾病和子宫内膜异位症之间的因果关系:一项两样本双向孟德尔随机化研究

盆腔炎性疾病和子宫内膜异位症之间的因果关系:一项两样本双向孟德尔随机化研究

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目的 利用两样本双向孟德尔随机化(MR)分析盆腔炎性疾病(PID)与子宫内膜异位症(EMs)之间的潜在因果关系.方法 从公开发表的全基因组关联数据库中筛选与PID和EMs有关的单核苷酸多态性(SNP)作为工具变量,双向分析均以逆方差加权法(IVW)分析为主,MR-Egger回归、加权中位数法(WME)、简单模型、加权模型作为补充,并运用Cochrane's Q检验、MR-Egger截距法、MR-PRESSO、留一法等进行敏感性分析确保结果的稳健性.结果 共筛选得到20个与PID相关的SNP,5个与EMs相关的SNP,正向孟德尔随机化IVW结果:OR=1.073,95%CI:1.005~1.146,P=0.033,且不存在异质性和水平多效性(P均>0.05),结果具有稳健性;反向MR分析IVW结果:OR=1.666,95%CI:1.215~2.283,P=1.493×10-3),异质性检验P均>0.05;MR-Egger、MR-PRESSO检验并剔除离群值后分析结果P>0.05,可证明不存在异质性和水平多效性.结论 本研究从遗传学角度分析表明PID与EMs互为因果关系,可能具有相似的发病机制.
Causal relationship between inflammatory pelvic disease and endometriosis:A two-sample bidirectional Mendelian randomization study
Objective To analyze the potential causal relationship between pelvic inflammatory disease(P1D)and endometriosis(EMs)using two-sample bidirectional Mendelian randomization(MR).Methods Single nucleotide polymor-phisms(SNPs)associated with PIDs and EMs were screened from publicly available genome-wide association databases as instrumental variables,and the two-way analyses were all based on inverse variance weighting(IVW)analysis,supplemented by MR-Egger regression,weighted median method(WME),simple model,and weighted model,and Cochrane's Q test,MR-Egger intercept method,MR-PRESSO,and leave-one-out method for sensitivity analysis to ensure the robustness of the results.Results A total of 20 SNPs associated with PID and 5 SNPs associated with EMs were screened.The results of forward Mendelian randomization IVW:OR=1.073,95%CI:1.005-1.146,P=0.033,and there was no heterogeneity and horizontal pleiotropy(all P>0.05),and the results were robust.The results of reverse MR analysis IVW:OR=1.666,95%CI:1.215-2.283,P=1.493 × 10-3,and the P-values of the heterogeneity test were all>0.05.The P-values of the analysis results were>0.05 after the MR-Egger and MR-PRESSO tests and the exclusion of outliers,which can prove the absence of heterogeneity and hori-zontal pleiotropy.Conclusion Genetic analysis in this study showed that PID and EMs are causally related to each other and may have similar pathogenesis.

pelvic inflammatory diseaseMendelian randomizationendometriosiscausality

毛雨瑞、乔江、唐佩、郭清、钟仪、周子琪、王淳、黄雯丽、唐嘉利、雷磊

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湖南中医药大学第一中医临床学院,湖南长沙 410007

湖南中医药大学第一附属医院,湖南长沙 410007

湖南中医药大学,湖南长沙 410208

盆腔炎性疾病 孟德尔随机化 子宫内膜异位症 因果关系

2024

中国优生与遗传杂志
中国优生科学协会

中国优生与遗传杂志

CSTPCD
影响因子:0.527
ISSN:1006-9534
年,卷(期):2024.32(8)