Relationship between DNA Methylation Profiles and Active Tuberculosis Development from Latent Infection: a Pilot Study in Nested Case-Control Design
Ying Du, Xu Gao, Jiaoxia Yan, Haoran Zhang, Xuefang Cao, Boxuan Feng, Yijun He, Yongpeng He, Tonglei Guo, Henan Xin, Lei Gao
Abstract
Approximately a quarter of the world population had been infected with Mycobacterium tuberculosis, and about 5 to 10% of these individuals might develop active disease in their lifetimes. As a critical component of the "end TB strategies," preventive treatment was shown to protect 60 to 90% of high-risk LTBIs from developing active disease. Developing new TB screening tools based on blood-based biomarkers, which could identify and rule out active TB from LTBI, are prerequisite before initialing intervention. We tried to explore potential DNA methylation diagnostic biomarkers through retrospectively detected DNA methylation profiles pre- and post-TB diagnosis. Eight dmCpGs were identified, and the combination of "cg02206980 + cg02214623 + cg12159502 + cg12321798" showed a sensitivity of 93.33% and a specificity of 86.67%. The preliminary results provided new insight into detecting the DNA methylation level as a potential tool to distinguish TB from LTBI.