Ankylosing spondylitis (AS) is an autoimmune-related inflammatory arthritis. The association between the DNA methylation and mRNA expression of PDCD1 gene with the susceptibility to AS remains unclear. In this case-control study, the methylation level of PDCD1 promoter was detected in 80 AS patients and 80 healthy controls by MethylTarget method. The transcriptional level of PDCD1 gene was measured in 47 AS patients and 47 healthy controls by real-time quantitative PCR. Finally, 17 methylation sites mapped to one CpG island were detected. Compared to healthy controls, the promoter of PDCD1 was hypermethylated (p < 0.001) and the mRNA expression was downregulated (p < 0.001) in AS patients. Significantly negative correlation was identified between the DNA methylation and mRNA expression of PDCD1 gene (rs = −0.470, p < 0.001). The receiver operating characteristic (ROC) results showed that PDCD1 island had a sensitivity of 61.3% and a specificity of 82.5%, and PDCD1 mRNA had a sensitivity of 87.2% and a specificity of 89.0%. The methylation level of PDCD1 was positively correlated with the ESR, CRP and ASDAS of AS, and was not affected by HLA-B27 status, gender or medicine intake.
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The data that support the findings of this study are available from the corresponding author upon reasonable request.
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This study was supported by grants from the National Natural Science Foundation of China (81773514, 82073655) and the funds for academic and technical leaders in Anhui province (2017D140) and Clinical Medicine Discipline construction project of Anhui Medical University (2021lcxk043).
The authors declare no competing interests.
The study was approved by the Ethical Committee of Anhui Medical University (Hefei, China) and all procedures have complied with the Declaration of Helsinki.
All the subjects were given an informed consent and were well told of the study protocol.
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Wu, Y., Chen, Y., Sun, X. et al. DNA methylation and transcriptome signatures of the PDCD1 gene in ankylosing spondylitis. Genes Immun 24, 46–51 (2023). https://doi.org/10.1038/s41435-023-00196-w