遗传变异在类风湿关节炎病理生理学中的作用及其对疾病机制的影响

Jethendra Kumar Muruganantham, Ramakrishnan Veerabathiran
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引用次数: 0

摘要

类风湿性关节炎(RA)是一种由遗传和环境因素引起的慢性炎症。全基因组关联研究(GWAS)通过确定与类风湿性关节炎患病风险增加相关的基因组区域,使人们对该病的遗传因素有了更深入的了解。要改善 RA 的治疗,就必须更好地了解这些特征。我们的目标是找出与 RA 易感性、严重程度和病情发展相关的基因变异。通过对 PubMed、Embase、Scopus、Science Direct 和 MEDLINE 数据库的检索,发现了有关类风湿关节炎、遗传学、基因方面和自身免疫性疾病的文章。所考虑的研究包括综述、荟萃分析、随机对照试验和系统综述。数据搜索时间为 2016 年 5 月至 2023 年 5 月。遗传因素被认为在细胞因子的产生、免疫细胞的活性以及RA的异常免疫反应中起着重要作用。通过将分子遗传学与临床特征相结合,有可能加强对RA的药物治疗,并为每个人提供量身定制的护理。最近的研究发现了几个与风湿性关节炎发病相关的易感基因位点和关键基因,使人们对该疾病的发病机制有了更深入的了解。这些基因关联可用于开发针对类风湿关节炎患者的药物和个性化护理策略。这篇综述的目的是通过寻找类风湿关节炎患者的基因机制来提高他们的生活质量;然而,要全面了解遗传和环境的影响因素,还需要进行更多的研究。
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The Role of Genetic Variants in Rheumatoid Arthritis Pathophysiology and their Impact on Disease Mechanisms
Rheumatoid arthritis (RA) is a chronic inflammatory condition caused by genetic and environmental factors. By identifying genomic regions associated with an increased risk of RA, Genome-wide association study (GWAS) has provided insight into the genetic component of the condition. A better understanding of these characteristics is necessary to improve RA therapy. The objective is to identify gene variants associated with RA susceptibility, severity, and progression. A search of PubMed, Embase, Scopus, Science Direct, and MEDLINE databases revealed articles concerning rheumatoid arthritis, genetics, genetic aspects, and autoimmune disorders. The research studies considered were reviews, meta-analyses, randomized controlled trials, and systematic reviews. The data was sought from May 2016 and May 2023. Genetic factors are thought to play a significant role in the production of cytokines, the activity of immune cells, and abnormal immune responses in RA. By combining molecular genetics with clinical characteristics, it is possible to enhance RA medications and provide tailored care to each individual. Recent studies have identified several susceptibility loci and key genes associated with the development of RA, providing insight into the mechanism underlying the disease. These genetic associations can be used to develop targeted medicines and personalized care strategies for people whom have rheumatoid arthritis. The purpose of this review is to enhance the quality of life by finding the gene mechanism of patients suffering from RAl; however, more research is still required to understand genetic and environmental influences fully.
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