Genome-wide DNA methylation profiling in differentiating Crohn's disease from intestinal tuberculosis

Wu Hao; Liu Hongchun; Liu Haining; Chen Yanjie; Liu Taotao; Shen Xizhong; Liu Lili

doi:10.1007/s13258-022-01224-1

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자료유형: 학술저널

저자정보: Wu Hao (Zhongshan Hospital Fudan University People’s Republic of China) Liu Hongchun (Zhongshan Hospital Fudan University People’s Republic of China) Liu Haining (Zhongshan Hospital Fudan University People’s Republic of China) Chen Yanjie (Zhongshan Hospital Fudan University People’s Republic of China) Liu Taotao (Zhongshan Hospital Fudan University People’s Republic of China) Shen Xizhong (Zhongshan Hospital Fudan University People’s Republic of China) Liu Lili (Zhongshan Hospital Fudan University People’s Republic of China)

저널정보: 한국유전학회 Genes & Genomics Genes & Genomics Vol.44 No.5

발행연도: 2022.5

수록면: 603 - 615 (13page)

DOI: 10.1007/s13258-022-01224-1

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Background Differential diagnosis of Crohn’s disease (CD) and intestinal tuberculosis (ITB) is still difficult in clinical pratice. DNA methylation has been considered as a favorable area for biomarker exploration and identification. Objective The purpose of the current study was to evaluate DNA methylation changes between CD and ITB. Methods We performed a genome-wide association study to identify differentially methylated positions (DMPs), including 8 CD patients (before the initial of biologics or immunomodulators), 6 ITB patients, and 8 healthy controls (HCs), in whole blood DNA using the Infinium HumanMethylation850 BeadChip. Results Patients in the CD group and ITB group were all observed with hypo-methylated changes compared with HCs. However, the CD group overlaps with the ITB group in DNA methylation, suggesting a stable epigenetic profile between the two diseases. The pathway enrichment analysis showed the alternation in inflammation-related pathway, immune system, and signal transduction. Focused on the DMPs located in the promoter region, further analysis indicated hypermethylation of cg03122532 (5′UTR of KCNJ15) could be a potential CD-specific biomarker. Conclusions We identified specific differential methylation loci related to CD and ITB in blood DNA. DNA metylation as a important epigenetic modification could contribute to the pathogenesis study and biomarker exploration of the diseases.

#DNA methylation · Diferentially methylated CpG sites · Crohn's disease · Intestinal tuberculosis

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