A genome-wide association study identified PRKCB as a causal gene and therapeutic target for Mycobacterium avium complex disease.

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Tác giả: Jianxia Chen, Qing Chen, Weijun Fang, Baoxue Ge, Liru Guan, Xiaochen Huang, Zhiqiang Li, Feng Liu, Haipeng Liu, Hua Liu, Zhonghua Liu, Hai Lou, Lianhua Qin, Wei Sha, Xiaona Shen, Xiang Shi, Qin Sun, Jie Wang, Ling Wang, Yingzhou Xie, Jinfu Xu, Hua Yang, Yifan Yang, Lan Yao, Ruijuan Zheng

Ngôn ngữ: eng

Ký hiệu phân loại: 611.316 Salivary glands

Thông tin xuất bản: United States : Cell reports. Medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 678978

Non-tuberculous mycobacterial pulmonary disease (NTM-PD) is a chronic progressive lung disease that is increasing in incidence. Host genetic factors are associated with NTM-PD susceptibility. However, the heritability of NTM-PD is not well understood. Here, we perform a two-stage genome-wide association study (GWAS) and discover a susceptibility locus at 16p21 associated with NTM-PD, especially with pulmonary Mycobacterium avium complex (MAC) disease. As the lead variant, rs194800 C allele augments protein kinase C beta (PRKCB) gene expression and associates with severer NTM-PD. The functional studies show that PRKCB exacerbates M. avium infection and promotes intracellular survival of M. avium in macrophages by inhibiting phagosomal acidification. Mechanistically, PRKCB interacts with subunit G of the vacuolar-H
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