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OACSTPCD
Causal relationship between telomere length and endometriosis:a two-way Mendelian random study
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 associa-tion 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 sam-ples)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.Re-sults: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 sev-eral 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.
杨亚楠;姜学文;黄欲晓;亢一帆;崔楠;赵嘉静;张雨晴;朱友华;张瑜娟;方梦鑫;卜梦雅
中国中医科学院西苑医院妇科,北京 100091北京中医药大学研究生院,北京 100105山西中医药大学第三临床学院,晋中 030619
临床医学
端粒长度子宫内膜异位症孟德尔随机化,因果关系
Telomere lengthEndometriosisMendelian randomization,causal relationship
《现代妇产科进展》 2024 (009)
666-669,674 / 5
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)
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