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与俄罗斯联邦人群特有的支气管哮喘相关的基因变异

Genetic Variants Associated with Bronchial Asthma Specific to the Population of the Russian Federation.

作者信息

Akhmerova Y N, Shpakova T A, Grammatikati K S, Mitrofanov S I, Kazakova P G, Mkrtchian A A, Zemsky P U, Pilipenko M N, Feliz N V, Frolova L V, Frolovskaya A A, Yudin V S, Keskinov A A, Kraevoy S A, Yudin S M, Skvortsova V I

机构信息

Federal State Budgetary Institution "Center for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency (Center for Strategic Planning of FMBA of Russia), Moscow, 119121 Russian Federation.

Federal Medical Biological Agency (FMBA of Russia), Moscow, 123182 Russian Federation.

出版信息

Acta Naturae. 2023 Jan-Mar;15(1):31-41. doi: 10.32607/actanaturae.11853.

Abstract

Bronchial asthma (BA) is a disease that still lacks an exhaustive treatment protocol. In this regard, the global medical community pays special attention to the genetic prerequisites for the occurrence of this disease. Therefore, the search for the genetic polymorphisms underlying bronchial asthma has expanded considerably. As the present study progressed, a significant amount of scientific medical literature was analyzed and 167 genes reported to be associated with the development of bronchial asthma were identified. A group of participants (n = 7,303) who had voluntarily provided their biomaterial (venous blood) to be used in the research conducted by the Federal Medical Biological Agency of Russia was formed to subsequently perform a bioinformatic verification of known associations and search for new ones. This group of participants was divided into four cohorts, including two sex-distinct cohorts of individuals with a history of asthma and two sex-distinct cohorts of apparently healthy individuals. A search for polymorphisms was made in each cohort among the selected genes, and genetic variants were identified whose difference in occurrence in the different cohorts was statistically significant (significance level less than 0.0001). The study revealed 11 polymorphisms that affect the development of asthma: four genetic variants (rs869106717, rs1461555098, rs189649077, and rs1199362453), which are more common in men with bronchial asthma compared to apparently healthy men; five genetic variants (rs1923038536, rs181066119, rs143247175, rs140597386, and rs762042586), which are more common in women with bronchial asthma compared to apparently healthy women; and two genetic variants (rs1219244986 and rs2291651) that are rare in women with a history of asthma.

摘要

支气管哮喘(BA)是一种仍缺乏详尽治疗方案的疾病。在这方面,全球医学界特别关注该疾病发生的遗传前提条件。因此,对支气管哮喘潜在基因多态性的研究有了显著扩展。随着本研究的推进,分析了大量科学医学文献,并确定了167个据报道与支气管哮喘发展相关的基因。组建了一组参与者(n = 7303),他们自愿提供生物材料(静脉血)用于俄罗斯联邦医学与生物学署开展的研究,随后对已知关联进行生物信息学验证并寻找新的关联。这组参与者被分为四个队列,包括两个有哮喘病史的按性别区分的队列和两个表面健康的按性别区分的队列。在每个队列的选定基因中搜索多态性,并鉴定出在不同队列中出现频率差异具有统计学意义的基因变异(显著性水平小于0.0001)。该研究揭示了11种影响哮喘发展的多态性:四种基因变异(rs869106717、rs1461555098、rs189649077和rs1199362453),与表面健康的男性相比,在患有支气管哮喘的男性中更为常见;五种基因变异(rs1923038536、rs181066119、rs143247175、rs140597386和rs762042586),与表面健康的女性相比,在患有支气管哮喘的女性中更为常见;以及两种基因变异(rs1219244986和rs2291651),在有哮喘病史的女性中较为罕见。

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