ORIGINAL RESEARCH article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1631088
This article is part of the Research TopicAutoinflammatory novelties: from pathogenic mechanisms to clinical and therapeutic implicationsView all 10 articles
Cytotoxic T lymphocyte-associated protein 4 gene polymorphisms are associated with ANCA-associated vasculitis in the Guangxi population of China
Provisionally accepted
- 1Guangxi Medical University Cancer Hospital, Nanning, China
- 2Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Region, China
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Heredity and epigenetic factors contribute to the pathogenesis of neutrophil-cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Cytotoxic T lymphocyte-associated protein 4 (CTLA-4), an inhibitory receptor regulating T-cell homeostasis and maintaining self-tolerance, has emerged as a key target for immune screening and therapeutics in autoimmunity and cancer. CTLA-4 is associated with various autoimmune diseases; however, the relationship between CTLA-4 polymorphisms and AAV in the Guangxi population of China remains underexplored. In the present case-control study, we evaluated the effects of CTLA-4 polymorphisms on AAV susceptibility in the Guangxi population of China. A total of 343 patients with AAV and 343 healthy controls were recruited. High-throughput sequencing was used to genotype CTLA4 variants, and logistic regression analysis was used to assess their association with AAV risk. The relationship between the haplotypes of CTLA4 single-nucleotide polymorphisms (SNPs) and AAV risk was assessed using the SHEsis platform. Three CTLA4 SNPs-rs62182595, rs16840252, and rs5742909showed significant association with AAV susceptibility. The ATT and GCC haplotypes, comprising these loci, were also associated with an increased risk of AAV. These findings suggest that CTLA4 polymorphisms (rs62182595, rs16840252, and rs5742909) may contribute to AAV susceptibility in the Guangxi population and offer preliminary markers for risk assessment, early diagnosis, and personalized management of AAV.
Keywords: CTLA-4, Vasculitis, T-cell, Autoimmune Diseases, Single-nucleotide polymorphism
Received: 19 May 2025; Accepted: 11 Aug 2025.
Copyright: © 2025 Bu, Yang, He and Xue. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Chao Xue, Second Affiliated Hospital of Guangxi Medical University, Nanning, 530007, Guangxi Zhuang Region, China
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