Application of IFN-induced protein 44-like gene methylation detection by methylation sensitive-high resolution melting in the diagnosis of systemic lupus erythematosus
10.3760/cma.j.cn141217-20240816-00251
- VernacularTitle:甲基化敏感性高分辨率熔解曲线法检测干扰素诱导蛋白44L基因甲基化水平在系统性红斑狼疮诊断中的应用
- Author:
Qian CHEN
1
;
Dong′e TANG
;
Yue MENG
;
Lijun ZHANG
;
Song HE
;
Zihua YANG
;
Xiaoping HONG
;
Yang CUI
;
Tieying HOU
;
Yong DAI
;
Yongzhe LI
Author Information
1. 中国医学科学院 北京协和医院检验科，北京 100730
- Publication Type:Journal Article
- Keywords:
Lupus erythematosus, systemic;
DNA methylation;
Autoimmune diseases;
IFI44L
- From:
Chinese Journal of Rheumatology
2025;29(8):639-644
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the clinical efficacy of methylation sensitive-high resolution melting curve (MS-HRM) detection of IFN-induced protein 44-like (IFI44L) gene methylation in the diagnosis of systemic lupus erythematosus (SLE), as well as the relationship between IFI44L gene markers and the early onset of SLE.Methods:From February 2020 to September 2022, the MS-HRM was used to detect the methylation level of the IFI44L gene in peripheral blood mononuclear cells of 602 SLE patients and 524 other autoimmune disease patients (excluding SLE) from Beijing Peking Union Medical College Hospital, Guangdong Provincial People′s Hospital, and Shenzhen People′s Hospital, totaling 1 126 patients. Compared with the 2012 SLICC criteria, the suspected cases were followed up for 6 months until the onset and clinical diagnosis of SLE were confirmed. The measurement data of normal distribution were expressed as mean±SD, and the consistency analysis was performed using the Kappa consistency test. The clinical diagnostic efficacy indicators were calculated using the receiver operating characteristic (ROC) curve. Results:RR (95% CI) of early suspected cases was 17.06 (9.43, 30.82). The results of IFI44L gene methylation level were in good agreement with the 2012 SLICC criteria, and the sensitivity, specificity and total coincidence rate were 90.53%, 92.56% and 91.47%, respectively. The Kappa value (95% CI) was 0.829(0.796, 0.862) ( P<0.001). The diagnostic efficiency of IFI44L gene methylation level ( Kappa value 0.817) was superior to anti-nuclear antibody, anti-SM antibody and anti-dsDNA antibody ( Kappa value 0.418, 0.216 and 0.440, respectively). The Kappa values (95% CI) of methylation between MS-HRM and pyrosequencing was 0.861(0.806, 0.916), P<0.001. Conclusion:The hypomethylation of IFI44L gene methylation level detected by MS-HRM is closely related to the occurrence and development of SLE, and its diagnostic performance is better than that of three autoantibodies in SLE diagnosis, which can be used for the early diagnosis of SLE.
