{"title":"Exploring the shared genetic mechanisms of atopic dermatitis and alopecia areata via bioinformatics approaches","authors":"Qianqian Chen, Ting Yang, Jiayi Cheng, Qing Zhao","doi":"10.1007/s00403-025-04004-5","DOIUrl":null,"url":null,"abstract":"<div><p>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, <i>p</i> = 0.957), weighted median analysis demonstrated a significant association (OR = 2.08, 95% CI: 1.16–3.71, <i>p</i> = 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.</p></div>","PeriodicalId":8203,"journal":{"name":"Archives of Dermatological Research","volume":"317 1","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of Dermatological Research","FirstCategoryId":"3","ListUrlMain":"https://link.springer.com/article/10.1007/s00403-025-04004-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
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.
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.