RT Journal Article
T1 IFI44L promoter methylation as a blood biomarker for systemic lupus erythematosus.
A1 Zhao, Ming
A1 Zhou, Yin
A1 Zhu, Bochen
A1 Wan, Mengjie
A1 Jiang, Tingting
A1 Tan, Qiqun
A1 Liu, Yan
A1 Jiang, Juqing
A1 Luo, Shuaihantian
A1 Tan, Yixin
A1 Wu, Haijing
A1 Renauer, Paul
A1 Ayala-Gutierrez, Maria Del Mar
A1 Castillo-Palma, Maria Jesus
A1 Ortega-Castro, Rafaela
A1 Fernandez-Roldan, Concepcion
A1 Raya, Enrique
A1 Faria, Raquel
A1 Carvalho, Claudia
A1 Alarcon-Riquelme, Marta E
A1 Xiang, Zhongyuan
A1 Chen, Jinwei
A1 Li, Fen
A1 Ling, Guanghui
A1 Zhao, Hongjun
A1 Liao, Xiangping
A1 Lin, Youkun
A1 Sawalha, Amr H
A1 Lu, Qianjin
K1 Autoimmune Diseases
K1 Gene Polymorphism
K1 Systemic Lupus Erythematosus
AB Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease with limited reliable diagnostic biomarkers. We investigated whether gene methylation could meet sensitivity and specificity criteria for a robust biomarker. IFI44L promoter methylation was examined using DNA samples from a discovery set including 377 patients with SLE, 358 healthy controls (HCs) and 353 patients with rheumatoid arthritis (RA). Two independent sets including 1144 patients with SLE, 1350 HCs, 429 patients with RA and 199 patients with primary Sjögren's syndrome (pSS) were used for validation. Significant hypomethylation of two CpG sites within IFI44L promoter, Site1 (Chr1: 79 085 222) and Site2 (Chr1: 79 085 250; cg06872964), was identified in patients with SLE compared with HCs, patients with RA and patients with pSS. In a comparison between patients with SLE and HCs included in the first validation cohort, Site1 methylation had a sensitivity of 93.6% and a specificity of 96.8% at a cut-off methylation level of 75.5% and Site2 methylation had a sensitivity of 94.1% and a specificity of 98.2% at a cut-off methylation level of 25.5%. The IFI44L promoter methylation marker was also validated in an European-derived cohort. In addition, the methylation levels of Site1 and Site2 within IFI44L promoter were significantly lower in patients with SLE with renal damage than those without renal damage. Patients with SLE showed significantly increased methylation levels of Site1 and Site2 during remission compared with active stage. The methylation level of IFI44L promoter can distinguish patients with SLE from healthy persons and other autoimmune diseases, and is a highly sensitive and specific diagnostic marker for SLE.
PB Elsevier
YR 2016
FD 2016-01-19
LK http://hdl.handle.net/10668/9749
UL http://hdl.handle.net/10668/9749
LA en
NO Zhao M, Zhou Y, Zhu B, Wan M, Jiang T, Tan Q, et al. IFI44L promoter methylation as a blood biomarker for systemic lupus erythematosus. Ann Rheum Dis. 2016 Nov;75(11):1998-2006
DS RISalud
RD Apr 17, 2025