一项关于子宫内膜异位症与甲状腺癌的双向双样本孟德尔随机化分析

Endometriosis and thyroid cancer: a two-sample mendelian randomization analysis

  • 摘要:
    目的 通过双向双样本孟德尔随机化(MR)探讨子宫内膜异位症与甲状腺癌的双向因果关系。
    方法 从FinnGen R 11数据库选取子宫内膜异位症的全基因组关联研究(GWAS)数据, 从欧洲生物信息研究所(EMBL-EBI)获取甲状腺癌GWAS数据。选取符合要求的单核苷酸多态性(SNP)为工具变量,采用逆方差加权法(IVW)作为主要研究方法,并结合MR-Egger回归法、加权中位数法、简单模式法及加权模式法结果作为补充分析。采用Cochran's Q检验、MR-Egger回归截距项分析及留一法评估结果的稳健性。
    结果 本研究最终纳入25个与子宫内膜异位症高度相关的SNP, 以及3个与甲状腺癌高度相关的SNP。正向MR分析的IVW分析结果显示,子宫内膜异位症与甲状腺癌风险无明显因果关系(P=0.50, OR=1.06, 95%CI: 0.88~1.29); MR-Egger回归、简单模式、加权模式、加权中位数分析亦支持该结果(P>0.05)。反向MR分析的IVW分析结果显示,甲状腺癌与子宫内膜异位症风险亦无明显因果关系(P=0.09, OR=1.03,95%CI: 0.99~1.06); MR-Egger回归、简单模式、加权模式、加权中位数分析结果亦均支持该结果(P>0.05)。
    结论 MR分析并未观察到子宫内膜异位症和甲状腺癌之间存在显著的双向因果关系。

     

    Abstract:
    Objective To investigate the bidirectional causal relationship between endometriosis and thyroid cancer using bidirectional two-sample Mendelian randomization (MR).
    Methods Genome-wide association study (GWAS) data for endometriosis were obtained from the FinnGen R11 database, and GWAS data for thyroid cancer were sourced from the European Bioinformatics Institute (EMBL-EBI). Single nucleotide polymorphisms (SNPs) that met the requirements were selected as instrumental variables. The inverse variance weighted (IVW) method was employed as the primary analytical approach, supplemented by MR-Egger regression, weighted median method, simple model, and weighted model results. Cochran's Q test, MR-Egger regression intercept analysis, and the leave-one-out method were used to assess the robustness of the results.
    Results Ultimately, 25 SNPs highly associated with endometriosis and 3 SNPs highly associated with thyroid cancer were included in this study. The IVW analysis results of the forward MR analysis indicated no significant causal relationship between endometriosis and the risk of thyroid cancer (P=0.50, OR=1.06, 95%CI: 0.88 to 1.29). This result was also supported by MR-Egger regression, simple model, weighted model, and weighted median analyses (P>0.05). The IVW analysis results of the reverse MR analysis similarly showed no significant causal relationship between thyroid cancer and the risk of endometriosis (P=0.09, OR=1.03, 95%CI, 0.99 to 1.06). The findings from MR-Egger regression, simple model, weighted model, and weighted median analyses all supported this conclusion (P>0.05).
    Conclusion The MR analysis doesn't show a significant bidirectional causal relationship between endometriosis and thyroid cancer.

     

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