AUTHOR=Bu Kunpeng , Yang Binglan , He Peigeng , Xue Chao 

TITLE=Cytotoxic T lymphocyte-associated protein 4 gene polymorphisms are associated with ANCA-associated vasculitis in the Guangxi population of China

JOURNAL=Frontiers in Immunology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2025.1631088

DOI=10.3389/fimmu.2025.1631088

ISSN=1664-3224

ABSTRACT=IntroductionHeredity 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.MethodsA  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.ResultsThree CTLA4 SNPs— rs62182595, rs16840252, and rs5742909— showed significant association with AAV susceptibility. The ATT and GCC haplotypes, comprising these loci, were also associated with an increased risk of AAV.DiscussionThese 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.