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复发性阿弗他口腔炎与口腔和咽部肿瘤:两样本孟德尔随机研究。

Recurrent aphthous stomatitis and neoplasms of the mouth and pharynx: a two-sample Mendelian randomization study.

机构信息

Graduate School of Beijing University of Chinese Medicine, Beijing, China.

Department of Integrated Traditional Chinese and Western Medicine Oncology, China-Japan Friendship Hospital, Beijing, China.

出版信息

BMC Cancer. 2024 Nov 9;24(1):1372. doi: 10.1186/s12885-024-13140-6.

Abstract

BACKGROUND

The association between recurrent aphthous stomatitis (RAS) and neoplasms of the mouth and pharynx (NOMAP) has been reported in some previous observational studies. However, causality is still confused. Our research aims to explore the relationship between RAS and NOMAP through a Mendelian randomization (MR) analysis and to explore whether RAS can serve as a risk factor for NOMAP to provide a reference for the clinical strategy.

METHODS

An exposure dataset for RAS were collected from a published study based on the UK Biobank (UKB). Outcome datasets included Genome-wide association studies (GWAS) summary statistics of NOMAP from the FinnGen datasets. The core method was inverse variance weighting (IVW). The Bonferroni correction, MR-Egger, weighted median, weighted mode, Cochcan's Q test, MR-PRESSO, and leave-one-out methods served as complementary methods.

RESULTS

We found no significant evidence of causal relationships between RAS and NOMAP. After applying the Bonferroni correction, the corrected P was equal to 0.00625 (0.05/1/8). The IVW method provided the sole evidence for RAS on Benign neoplasm of floor of mouth (BNFM) (OR = 2.509, 95% CI: 1.296-4.857, P = 0.006), but the subsequent MR-Egger regression method showed that this result may be due to horizontal pleiotropy (P = 0.035). The Cochran Q-test, MR-Egger regression, and MR-PRESSO did not reveal any heterogeneity or directional pleiotropy for the other outcomes.

CONCLUSIONS

In conclusion, this is the first MR analysis to investigate the relationship between RAS and NOMAP. Our research confirmed at the genetic level that no causal association has been identified between RAS and NOMAP, therefore facilitating a logical therapeutic perspective and the development of clinical therapies for them.

摘要

背景

复发性阿弗他口炎(RAS)与口腔和咽肿瘤(NOMAP)之间的关联在一些先前的观察性研究中已有报道。然而,因果关系仍然存在混淆。我们的研究旨在通过孟德尔随机化(MR)分析来探讨 RAS 与 NOMAP 之间的关系,并探讨 RAS 是否可以作为 NOMAP 的风险因素,为临床策略提供参考。

方法

从基于英国生物库(UKB)的已发表研究中收集 RAS 的暴露数据集。结局数据集包括来自芬兰基因(FinnGen)数据集的 NOMAP 的全基因组关联研究(GWAS)汇总统计数据。核心方法是逆方差加权(IVW)。Bonferroni 校正、MR-Egger、加权中位数、加权众数、Cochcan's Q 检验、MR-PRESSO 和留一法是补充方法。

结果

我们没有发现 RAS 与 NOMAP 之间存在因果关系的显著证据。应用 Bonferroni 校正后,校正后的 P 值等于 0.00625(0.05/1/8)。IVW 方法为 RAS 与口腔底部良性肿瘤(BNFM)之间的关系提供了唯一的证据(OR=2.509,95%CI:1.296-4.857,P=0.006),但随后的 MR-Egger 回归方法表明,这一结果可能是由于水平偏倚(P=0.035)。Cochran Q 检验、MR-Egger 回归和 MR-PRESSO 均未发现其他结果存在异质性或方向偏倚。

结论

总之,这是第一项研究 RAS 与 NOMAP 之间关系的 MR 分析。我们的研究在遗传水平上证实,RAS 与 NOMAP 之间没有确定的因果关系,从而为它们的逻辑治疗观点和临床治疗方法的发展提供了依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fe9/11550542/cd676a032771/12885_2024_13140_Fig1_HTML.jpg

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