俄罗斯联邦人群特有的与支气管哮喘相关的遗传变异。

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS ACS Applied Bio Materials Pub Date : 2023-01-01 DOI:10.32607/actanaturae.11853
Y N Akhmerova, T A Shpakova, K S Grammatikati, S I Mitrofanov, P G Kazakova, A A Mkrtchian, P U Zemsky, M N Pilipenko, N V Feliz, L V Frolova, A A Frolovskaya, V S Yudin, A A Keskinov, S A Kraevoy, S M Yudin, V I Skvortsova
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引用次数: 0

摘要

支气管哮喘(BA)是一种仍然缺乏详尽治疗方案的疾病。在这方面,全球医学界特别关注这种疾病发生的遗传先决条件。因此,对支气管哮喘遗传多态性的研究已经大大扩展。随着本研究的进展,分析了大量的科学医学文献,并鉴定了167个与支气管哮喘发展相关的基因。一组参与者(n=7303)自愿提供了他们的生物材料(静脉血),用于俄罗斯联邦医学生物局进行的研究,随后对已知的关联进行了生物信息学验证,并寻找新的关联。这组参与者被分为四个队列,包括有哮喘病史的两个性别不同的队列和明显健康的两个不同性别的队列。在所选基因中的每个队列中搜索多态性,并确定了遗传变异,其在不同队列中的发生差异具有统计学意义(显著性水平低于0.0001)。该研究揭示了11种影响哮喘发展的多态性:四种遗传变异(rs869106717、rs1461555098、rs189649077和rs1199362453),与明显健康的男性相比,其在患有支气管哮喘的男性中更常见;五种遗传变异(rs1923038536、rs181066119、rs143247175、rs140597386和rs762042586),与明显健康的女性相比,在患有支气管哮喘的女性中更常见;以及两种在有哮喘病史的女性中罕见的遗传变异(rs1219244986和rs2291651)。
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Genetic Variants Associated with Bronchial Asthma Specific to the Population of the Russian Federation.

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.

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来源期刊
ACS Applied Bio Materials
ACS Applied Bio Materials Chemistry-Chemistry (all)
CiteScore
9.40
自引率
2.10%
发文量
464
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