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microRNAs与子宫内膜异位症相关性的双样本孟德尔随机化研究

张晶宇 张云飞 王可鉴 蔡慧华

现代妇产科进展2026，Vol.35Issue(1)：24-29,6.
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现代妇产科进展2026，Vol.35Issue(1)：24-29,6.DOI:10.13283/j.cnki.xdfckjz.2026.01.005

microRNAs与子宫内膜异位症相关性的双样本孟德尔随机化研究

Double sample Mendelian randomization study on the correlation between microRNAs and endometriosis

张晶宇 1张云飞 2王可鉴 3蔡慧华4

作者信息

  • 1. 广东省心血管病研究所,广东省人民医院,广东省医学科学院,广州 510080||南方医科大学广东省人民医院(广东省医学科学院)妇产科,广州 510080
  • 2. 赣南医科大学第一临床医学院,赣州 341000||广东省人民医院赣州医院妇产科,赣州 341000
  • 3. 山东中医药大学中医药创新研究院,济南 250300
  • 4. 广东省心血管病研究所,广东省人民医院,广东省医学科学院,广州 510080||南方医科大学广东省人民医院(广东省医学科学院)妇产科,广州 510080||广东省人民医院赣州医院妇产科,赣州 341000
  • 折叠

摘要

Abstract

Objective:To investigate the potential causal relationship between circulat-ing microRNAs(miRNAs)and the risk of endometriosis(EMs)using a two-sample Mendelian randomization(MR)approach.Methods:This study integrated miRNA expression quantitative trait loci(miR-eQTL)data and genome-wide association study(GWAS)summary statistics for endometriosis.Inverse-variance weighted(IVW)and weighted median methods were employed for MR analyses to systematically assess the causal relationship between miRNAs and EMs.MiRNet 2.0 and miRTarBase databases were utilized to predict target genes of significantly as-sociated miRNAs,followed by functional enrichment analysis.Results:Genetically predicted higher levels of miR-130a-3p were significantly associated with an increased overall risk of EMs(Weighted median:OR=1.263,95%CI:1.142 to 1.398,FDR-corrected P=0.010;IVW:OR=1.202,95%CI:1.125 to 1.285,FDR-corrected P=8.83×10-5).Genetically predicted high-er levels of miR-30b-5p and miR-30d-5p exhibited protective effects,particularly associated with a reduced risk of deeply infiltrating endometriosis(DIE)in the rectovaginal septum.Gene Ontology(GO)functional enrichment analysis indicated that the target genes of these three miRNAs were significantly enriched in pathways related to miRNA metabolic processes and transcriptional regulation.Conclusion:This study suggests that genetically predicted higher ex-pression of miR-130a-3p is a potential risk factor for EMs,while higher expression of miR-30b-5p and miR-30d-5p may confer protection.These miRNAs demonstrate potential causal relation-ships with EMs pathogenesis,providing candidate circulating biomarkers for the clinical diagno-sis and treatment of EMs.

关键词

子宫内膜异位症/microRNAs/孟德尔随机化/因果关系/生物标志物

Key words

Endometriosis/MicroRNAs/Mendelian randomization/Causal relation-ship/Biomarker

分类

医药卫生

引用本文复制引用

张晶宇,张云飞,王可鉴,蔡慧华..microRNAs与子宫内膜异位症相关性的双样本孟德尔随机化研究[J].现代妇产科进展,2026,35(1):24-29,6.

基金项目

国家自然科学基金地区项目(No:82360301) （No:82360301）

赣州市科技计划项目(No:2023NS226934 （）

No:2022CXRC9594) （）

江西省自然科学基金项目(No:20224BAB216027) （No:20224BAB216027）

现代妇产科进展

1004-7379

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