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Abstract <p>Bronchial asthma (BA) is a common heterogeneous chronic disease of the respiratory tract. In numerous genome-wide association studies (GWAS), a large number of associated genes were detected, but they cannot be considered as an exhaustive spectrum. Repair proteins are involved in the maturation of B and T lymphocytes, switching of immunoglobulin classes, and somatic hypermutation, which directly connects them with the pathogenesis of infectious–allergic diseases, including BA. In adult patients, BA is often combined with cardiovascular pathology, primarily with hypertension. In this work, associations of variants of the genes of DNA repair systems with “isolated” BA and with BA combined with hypertension were studied. Markers of the <i>ATM</i> (rs189037 and rs1801516), <i>NBN</i> (rs709816 and rs1805800), <i>MRE11</i> (rs473297), <i>TP53BP1</i> (rs560191), <i>MLH1</i> (rs1799977), <i>PMS2</i> (rs1805321) genes were investigated. Associations with the “isolated” form of bronchial asthma were found for three markers: rs560191 in the <i>TP53BP1</i> gene, rs1799977 in the <i>MLH1</i> gene, and rs189037 in the <i>ATM</i> gene. The rs1801516 in the <i>ATM</i> gene was associated with bronchial asthma in combination with hypertension. In addition, the results of the study indicate a genetically determined heterogeneity of the combination of bronchial asthma and hypertension depending on the primary manifestation of one or another of the studied diseases.</p>

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Molecular Genetic Aspects of the Effect of Polymorphism in the Genes of DNA Repair System Proteins on the Risk of Developing Bronchial Asthma

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  • 发表日期：

    2026年7月20日

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  • N. P. Babushkina,
  • E. Yu. Bragina,
  • E. V. Nemerov,
  • A. N. Kucher

摘要

Abstract

Bronchial asthma (BA) is a common heterogeneous chronic disease of the respiratory tract. In numerous genome-wide association studies (GWAS), a large number of associated genes were detected, but they cannot be considered as an exhaustive spectrum. Repair proteins are involved in the maturation of B and T lymphocytes, switching of immunoglobulin classes, and somatic hypermutation, which directly connects them with the pathogenesis of infectious–allergic diseases, including BA. In adult patients, BA is often combined with cardiovascular pathology, primarily with hypertension. In this work, associations of variants of the genes of DNA repair systems with “isolated” BA and with BA combined with hypertension were studied. Markers of the ATM (rs189037 and rs1801516), NBN (rs709816 and rs1805800), MRE11 (rs473297), TP53BP1 (rs560191), MLH1 (rs1799977), PMS2 (rs1805321) genes were investigated. Associations with the “isolated” form of bronchial asthma were found for three markers: rs560191 in the TP53BP1 gene, rs1799977 in the MLH1 gene, and rs189037 in the ATM gene. The rs1801516 in the ATM gene was associated with bronchial asthma in combination with hypertension. In addition, the results of the study indicate a genetically determined heterogeneity of the combination of bronchial asthma and hypertension depending on the primary manifestation of one or another of the studied diseases.