Sviridov P S, Litvinova M M, Karnaushkina M A, Makaryants N N, Gorbunova M V
Laboratory Geneticist, Researcher; Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow, 115522, Russia; Research Assistant; The Patrice Lumumba Peoples' Friendship University of Russia, 6 Miklukho-Maklaya St., Moscow, 117198, Russia.
MD, PhD, Associate Professor, Deputy Head of the Department for Research Work of the Department of Medical Genetics; I.M. Sechenov First Moscow State Medical University (Sechenov University), 8/2 Trubetskaya St., Moscow, 119991, Russia; Senior Researcher; The Patrice Lumumba Peoples' Friendship University of Russia, 6 Miklukho-Maklaya St., Moscow, 117198, Russia.
Sovrem Tekhnologii Med. 2024;16(5):62-71. doi: 10.17691/stm2024.16.5.07. Epub 2024 Oct 30.
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). 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. genes have been found to refer to these variants as well as variants in the intergenic regions affecting expression of 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.
本文是一篇系统性综述，回顾了已发表的描述非结核分枝杆菌引起的肺部疾病（非结核分枝杆菌肺病 - NTM-PD）遗传风险因素的数据。目的是编制一份与NTM-PD发病风险相关的特定遗传标记列表。本综述根据PRISMA标准编制，并已在国际前瞻性系统评价注册库（PROSPERO）中注册（注册号CRD42019128569）。在工作过程中，研究了来自PubMed、谷歌学术和ScienceDirect数据库的大量文章。通过仔细的分析和筛选程序，生成了一份与NTM-PD发病风险增加相关的14个基因变异列表。已发现这些变异以及基因间区域中影响基因表达的变异所涉及的基因。这些基因的产物在调节对各种致病因素的反应中发挥不同作用，其中一些作用尚不清楚。为了更精确和详细地解释这些遗传变异的影响，需要在不同人群的患者组中进行进一步研究，评估变异的不同组合和基因间相互作用。
