端粒长度与子宫内膜异位症的因果关系:双向孟德尔随机研究  

Causal relationship between telomere length and endometriosis:a two-way Mendelian random study

作　　者：杨亚楠 亢一帆 崔楠 赵嘉静 张雨晴 朱友华 张瑜娟 方梦鑫 卜梦雅 姜学文 黄欲晓[1] Yang Yanan;Kang Yifan;Cui Nan;无(Department of Gynecology,Xiyuan Hospital,China Academy of Chinese Medical Sciences,Beijing100091;Third Clinical College of Shanxi University of Traditional Chinese Medicine,Jinzhong030619;Graduate School of Beijing University of Chinese Medicine,Beijing100105)

机构地区：[1]中国中医科学院西苑医院妇科,北京100091 [2]山西中医药大学第三临床学院,晋中030619 [3]北京中医药大学研究生院,北京100105

出　　处：《现代妇产科进展》2024年第9期666-669,674,共5页Progress in Obstetrics and Gynecology

基　　金：中国中医科学院“优势病种-医院制剂-新药”研发专项(No:ZZ15-XY-PT-04);中国中医科学院科技创新工程(No:CI2021A02411);中国中医科学院西苑医院中药新药研发专项(No:XYZX0303-05)。

摘　　要：目的:基于大规模人群的全基因组关联研究(GWAS),通过孟德尔随机化(MR)分析探讨端粒长度(TL)与子宫内膜异位症(EMs)是否存在因果关系。方法:采用双向MR研究来自欧洲血统的TL(样本77257例)和EMs(样本472174例)的GWAS汇总统计数据。采用逆方差加权(IVW)、MR-Egger、加权中位数、简单模型和加权模型进行MR分析。结果主要基于IVW,使用随机效应,行敏感性分析。用IVW和MR-Egger检测到异质性。水平检测采用MR-Egger进行分析。采用留一法鉴定单核苷酸多态性(SNPs)。结果:IVW方法正向MR分析结果显示,TL对EMs的影响显著(IVW OR=1.250,P=0.006);反向MR分析中没有发现EMs与TL之间存在明显的因果关系(IVW OR=0.997,P=0.569)。这些发现在几个敏感性分析中都是稳健的。结论:TL与EMs之间存在因果关系,且呈正相关;反向MR分析未发现EMs与TL存在因果关联。Objective:Based on the large-scale population-based genome-wide association study(GWAS),Mendelian randomization(MR)analysis was used to explore whether there was a causal relationship between telomere length(TL)and endometriosis(EMs).Methods:Two-way MR was used to study the GWAS summary statistics of TL(77257 samples)and EMs(472174 samples)from European ancestry.MR analysis was performed using inverse variance weighting(IVW),MR-Egger,weighted median,simple model and weighted model.The results were mainly based on IVW,using random effects and sensitivity analysis.Heterogeneity was detected by IVW and MR-Egger.The level detection was analyzed by MR-Egger.Single nucleotide polymorphisms(SNPs)were identified by leave-one-out method.Results:The results of IVW forward MR analysis showed that TL had a significant effect on EMs(IVW OR=1.250,P=0.006).No significant causal relationship between EMs and TL was found in reverse MR analysis(IVW OR=0.997,P=0.569).These findings are robust in several sensitivity analyses.Conclusion:There is a causal relationship between TL and EMs,and there is a positive correlation.No causal association between EMs and TL was found by reverse MR analysis.

关 键 词：端粒长度 子宫内膜异位症 孟德尔随机化 因果关系 

分 类 号：R711.71[医药卫生—妇产科学]