Genetic Risk Factors for Nontuberculous Mycobacterial Pulmonary Disease (Systematic Review)

This paper is a systematic review of the published data describing genetic risk factors for pulmonary diseases caused by nontuberculous mycobacteria (nontuberculous mycobacterial pulmonary disease — NTM-PD).

The aim of the study is to compile a specific list of genetic markers associated with the risk of developing NTM-PD.

This literature review was prepared according to PRISMA criteria and was registered in the International Prospective Register of Systematic Reviews (PROSPERO) (registration number CRD42019128569).

In the process of work, a great number of articles from PubMed, Google Scholar, and ScienceDirect databases have been studied. Using careful analysis and selection procedures, a list of 14 genetic variants associated with an increased risk of developing NTM-PD was generated. SLC11A1, NLRP3, TLR2, CFTR, IFNGR1, PDCD1 genes have been found to refer to these variants as well as variants in the intergenic regions affecting expression of STK17A, IFNL3, TNF, IL10 genes. The products of these genes take different roles in regulating the response to various pathogenic factors, and some of them are poorly understood. For a more precise and detailed explanation of the influence of these genetic variants, further studies in patient groups of different populations with the evaluation of different combinations of variants and intergenic interaction are required.

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