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大疱性类天疱疮与代谢综合征及其相关特征之间的关系:一项双向两样本孟德尔随机化研究。

Relationship between bullous pemphigoid and metabolic syndrome and its relevant traits: a bidirectional two-sample Mendelian randomization study.

作者信息

Chen Fangyuan, Zhang Bingjie, Li Li

机构信息

Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, No.1 Shuai Fu Yuan Street, Dong Cheng District, Beijing, 100730, China.

出版信息

Arch Dermatol Res. 2025 Jan 6;317(1):180. doi: 10.1007/s00403-024-03704-8.

Abstract

Bullous pemphigoid (BP) is a chronic autoimmune subepidermal blistering disease, affecting mostly the elderly. Metabolic syndrome (MetS) is a set of metabolic disorders including obesity, hypertension, glucose intolerance, and dyslipidemia. Observational studies have revealed a correlation between BP and MetS with controversial results and the causal relationship needs to be clarified. In the study of BP and MetS, observational investigations are prone to be biased by confounding factors such as the use of corticosteroids or age. However, Mendelian randomization (MR) is less susceptible to confounding factors and reverse causality. In this study, we aimed to use two-sample MR to investigate the causal correlation between BP and MetS from a genetic perspective. We used genome-wide association study (GWAS) data of BP, MetS, and its relevant traits to perform the analysis. The relevant traits consisted of four aspects, including central obesity, hypertension, impaired glucose tolerance, and dyslipidemia. In the results, it demonstrated no causal association of BP on the risk of MetS or its relevant traits and it revealed no significant linkage in the reverse procedure. This analysis enriched the research on the association of BP and MetS and provided evidence from a genetic perspective.

摘要

大疱性类天疱疮(BP)是一种慢性自身免疫性表皮下疱病,主要影响老年人。代谢综合征(MetS)是一组代谢紊乱,包括肥胖、高血压、糖耐量异常和血脂异常。观察性研究揭示了BP与MetS之间的相关性,但结果存在争议,因果关系有待阐明。在BP与MetS的研究中,观察性调查容易受到如使用皮质类固醇或年龄等混杂因素的影响。然而,孟德尔随机化(MR)较少受到混杂因素和反向因果关系的影响。在本研究中,我们旨在从基因角度使用两样本MR来研究BP与MetS之间的因果关系。我们使用了BP、MetS及其相关特征的全基因组关联研究(GWAS)数据进行分析。相关特征包括四个方面,即中心性肥胖、高血压、糖耐量受损和血脂异常。结果显示,BP与MetS风险或其相关特征之间无因果关联,反向过程中也未发现显著联系。该分析丰富了对BP与MetS关联的研究,并从基因角度提供了证据。

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