Exploring the shared genetic mechanisms of atopic dermatitis and alopecia areata via bioinformatics approaches

IF 2.1 4区 医学 Q3 DERMATOLOGY Archives of Dermatological Research Pub Date : 2025-02-20 DOI:10.1007/s00403-025-04004-5
Qianqian Chen, Ting Yang, Jiayi Cheng, Qing Zhao
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Abstract

Atopic dermatitis (AD) and alopecia areata (AA) are chronic inflammatory skin diseases. While studies suggest a possible immune defense mechanism link between the two, the causal relationship remains unclear, and current methodologies have limitations. This study aims to investigate the causal relationship between AD and AA using genome-wide association study statistics from the Integrative Epidemiology Unit Open Genome-Wide Association Study (IEU Open Gwas) project. We utilized the inverse variance weighting (IVW) method as our primary analysis approach for assessing the causal association between AD and AA. To enhance the robustness of our findings, we also employed supplementary validation methods, including the weighted median, MR-Egger method, and other analytical approaches. Our analysis revealed a significant increase in the risk of AA associated with single-nucleotide polymorphisms (SNPs) linked to AD (odds ratio (OR) = 1.84, 95% confidence interval (CI): 1.19–2.85, p-value (p) = 0.006). While MR-Egger analysis did not show a significant association (OR = 1.04, 95% CI: 0.29–3.68, p = 0.957), weighted median analysis demonstrated a significant association (OR = 2.08, 95% CI: 1.16–3.71, p = 0.013). Additionally, MR-Egger intercept and MR-PRESSO analysis showed no evidence of potential pleiotropy or horizontal pleiotropy between AD and AA. This study indicates that AD increases the risk of AA, providing valuable insights into the pathogenesis and prevention of these two diseases. Future research should explore the underlying mechanisms to better understand this relationship.

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利用生物信息学方法探讨特应性皮炎和斑秃的共同遗传机制
特应性皮炎(AD)和斑秃(AA)是慢性炎症性皮肤病。虽然研究表明两者之间可能存在免疫防御机制联系,但因果关系尚不清楚,目前的方法也有局限性。本研究旨在利用综合流行病学单位开放全基因组关联研究(IEU Open Gwas)项目的全基因组关联研究统计数据,探讨AD与AA之间的因果关系。我们使用逆方差加权(IVW)方法作为评估AD和AA之间因果关系的主要分析方法。为了增强研究结果的稳健性,我们还采用了补充验证方法,包括加权中位数法、MR-Egger法和其他分析方法。我们的分析显示,与AD相关的单核苷酸多态性(snp)显著增加AA的风险(优势比(OR) = 1.84, 95%可信区间(CI): 1.19-2.85, p值(p) = 0.006)。虽然MR-Egger分析未显示显著相关性(OR = 1.04, 95% CI: 0.29-3.68, p = 0.957),但加权中位数分析显示显著相关性(OR = 2.08, 95% CI: 1.16-3.71, p = 0.013)。此外,MR-Egger截距和MR-PRESSO分析显示AD和AA之间没有潜在的多效性或水平多效性的证据。本研究提示AD增加了AA的风险,为这两种疾病的发病机制和预防提供了有价值的见解。未来的研究应该探索潜在的机制,以更好地理解这种关系。
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来源期刊
CiteScore
4.10
自引率
3.30%
发文量
30
审稿时长
4-8 weeks
期刊介绍: Archives of Dermatological Research is a highly rated international journal that publishes original contributions in the field of experimental dermatology, including papers on biochemistry, morphology and immunology of the skin. The journal is among the few not related to dermatological associations or belonging to respective societies which guarantees complete independence. This English-language journal also offers a platform for review articles in areas of interest for dermatologists and for publication of innovative clinical trials.
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