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利用孟德尔随机化研究炎症性肠病与单纯性阑尾炎之间的因果关系。

Investigating the causal relationship between inflammatory bowel disease and simple appendicitis using Mendelian randomization.

机构信息

Department of General Surgery, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.

出版信息

Sci Rep. 2024 Oct 9;14(1):23617. doi: 10.1038/s41598-024-74572-5.

Abstract

The relationship between simple appendicitis and inflammatory bowel disease (IBD) is not clear. In this study, we approach the issue from a genetic perspective, using Mendelian randomization (MR) tools to explore the potential causal connection between the two. We used GWAS data from 12,882 IBD patients (21,770 controls), 5956 crohn's disease (CD) patients (14,927 controls), 6968 ulcerative colitis (UC) patients (20,464 controls), and 4604 simple appendicitis patients (481,880 controls). These statistical data were derived from a large-scale whole-genome association study of individuals with European ancestry. The primary analytical method for inferring the causal relationship between the conditions involved the use of the Inverse Variance Weighting (IVW) method as the main approach for bidirectional MR analysis. The MR analysis results predicted IBD was associated with a lower risk of simple appendicitis (OR: 0.947 (0.911, 0.984), p = 0.005). The results for CD (OR: 0.948 (0.916, 0.981), p = 0.002) and UC (OR: 0.954 (0.917, 0.992), p = 0.020) are consistent with this finding. In the reverse MR analysis, there is no significant association between simple appendicitis and the occurrence of IBD (p > 0.05), and the same holds true for CD and UC (p > 0.05). Our MR study results suggest a potential negative causal effect of IBD on the occurrence of simple appendicitis. Conversely, there does not appear to be a significant causal relationship between simple appendicitis and the risk of developing IBD.

摘要

单纯性阑尾炎与炎症性肠病(IBD)之间的关系尚不清楚。在这项研究中,我们从遗传角度探讨了这个问题,使用孟德尔随机化(MR)工具来探索两者之间潜在的因果关系。我们使用了来自 12882 名 IBD 患者(21770 名对照)、5956 名克罗恩病(CD)患者(14927 名对照)、6968 名溃疡性结肠炎(UC)患者(20464 名对照)和 4604 名单纯性阑尾炎患者(481880 名对照)的全基因组关联研究 GWAS 数据。这些统计数据来自于一项对欧洲血统个体的大规模全基因组关联研究。推断所涉及的条件之间因果关系的主要分析方法是使用逆方差加权(IVW)方法作为双向 MR 分析的主要方法。MR 分析结果预测 IBD 与单纯性阑尾炎的风险降低相关(OR:0.947(0.911,0.984),p=0.005)。CD(OR:0.948(0.916,0.981),p=0.002)和 UC(OR:0.954(0.917,0.992),p=0.020)的结果与这一发现一致。在反向 MR 分析中,单纯性阑尾炎与 IBD 的发生之间没有显著关联(p>0.05),CD 和 UC 也是如此(p>0.05)。我们的 MR 研究结果表明,IBD 对单纯性阑尾炎的发生有潜在的负向因果效应。相反,单纯性阑尾炎与 IBD 发病风险之间似乎没有显著的因果关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f2b/11464600/8ffecfeed2ba/41598_2024_74572_Fig1_HTML.jpg

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