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DNA methylation and transcriptome signatures of the PDCD1 gene in ankylosing spondylitis


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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Fig. 1: The methylation level of PDCD1 promoter in AS patients and healthy controls.
Fig. 2: ROC analysis of PDCD1 gene in AS.
Fig. 3: Subgroup analysis of PDCD1 methylation based on HLA-B27 antigen and gender.
Fig. 4: Results of PDCD1 mRNA expression level and correlation analysis.

Data availability

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).

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Authors and Affiliations



YW: conceptualization, methodology, software, investigation, formal analysis, writing—original draft; YC: data curation, writing—original draft; XS: visualization, investigation; YD: resources, supervision; MN: software, validation; FP: conceptualization, funding acquisition, resources, supervision, writing—review and editing.

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Correspondence to Faming Pan.

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The study was approved by the Ethical Committee of Anhui Medical University (Hefei, China) and all procedures have complied with the Declaration of Helsinki.

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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).

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