Gasdermin B rs7216389多态性及其与儿童哮喘相关性的遗传学和病理学研究

Discoveries (Craiova, Romania) Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI:10.15190/d.2024.15
Qudsia Umaira Khan, Afreen Banu, Ismail Mazhar, Aimen Binte Asif, Aan Waseem
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引用次数: 0

摘要

本文综述了与儿童哮喘相关的遗传和病理机制,重点介绍了Gasdermin B (GSDMB)基因变异rs7216389。因此,哮喘被概述为儿童中最常见的慢性疾病,在世界范围内发病率增加,严重并发症和死亡率与严重表现(主要是恶化)有关。该综述提供了哮喘加重的临床定义,简要介绍了成本方面,并解释了儿童哮喘与成人发作哮喘的特点。它认识到遗传因素的影响,如17q21位点的单核苷酸多态性与哮喘及其严重发作有关,同时强调有必要了解那些可能成为治疗潜在目标的遗传因素。该综述还强调了在临床中实施这一发现的困难,以及在儿童哮喘病理过程中致力于揭示遗传风险因素、环境暴露和免疫反应之间关系的进一步研究的潜力。为此,目前的工作应被视为一种尝试,以提供哮喘发病机制的广泛概述,并有助于在未来的研究中发展新的假设和治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic and Pathological Insights into the rs7216389 Polymorphism in Gasdermin B and Its Association with Childhood Asthma.

This review provides an overview of genetic and pathological mechanisms associated with childhood asthma, focusing on the Gasdermin B (GSDMB) gene variant rs7216389. Accordingly, asthma is outlined as the most common chronic disease in children, with increased incidence in the worldwide community, critically important complications, and mortality related to severe manifestations, primarily exacerbations. The review provides a clinical definition of asthma exacerbation, briefly goes into the cost aspects, and explains the features of pediatric asthma compared to adult-onset asthma. It recognizes the influence of genetic factors such as single nucleotide polymorphisms at the 17q21 locus concerning asthma and its severe attacks while stressing the need to understand those genetic factors that could be potential targets for treatment. The review also stresses the difficulties in implementing the discovery in the clinic, and the potential of additional research dedicated to unveiling the relationship between genetic risk factors, environmental exposures, and immune reactions in the pathological process of childhood asthma. To this end, the current work should be viewed as an attempt to provide a broad overview of asthma pathogenesis and contribute to the development of novel hypotheses and therapeutic approaches in future studies.

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