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

Genes & Immunity volume 24, pages 46–51 (2023)Cite this article

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Abstract

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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Funding

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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Author notes

  1. These authors contributed equally: Ye Wu, Yuting Chen.

Authors and Affiliations

  1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, China

    Ye Wu, Yuting Chen, Xiaoya Sun, Yujie Deng, Man Ni & Faming Pan

  2. The Key Laboratory of Major Autoimmune Diseases, Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, China

    Ye Wu, Yuting Chen, Xiaoya Sun, Yujie Deng, Man Ni & Faming Pan

  3. Department of Human Resources, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, Anhui, China

    Ye Wu

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Contributions

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). https://doi.org/10.1038/s41435-023-00196-w

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