基因修饰因子对囊性纤维化表型特征的影响:系统综述

IF 3.3 2区 医学 Q2 GENETICS & HEREDITY Human Mutation Pub Date : 2024-10-15 DOI:10.1155/2024/6165547
Anastasia Ward, Ramil Mauleon, Chee Y. Ooi, Nedeljka Rosic
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引用次数: 0

摘要

囊性纤维化(CF)是一种复杂的单基因疾病,疾病严重程度差异很大。越来越多的证据表明,观察到的变异不仅取决于囊性纤维化跨膜传导调节器(CFTR)基因的变异,还取决于修饰基因的变异。我们利用五个数据库(包括 CINAHL、PubMed、Science Direct、Scopus 和 Web of Science)进行了系统性综述,研究了目前关于修饰基因的基因组变异对 CF 疾病进展、严重程度和治疗反应的已知影响的文献。共选取了 70 篇全文文章,描述了 80 多个与 CF 相关的修饰基因。修饰基因包括与 CFTR 相互作用组、炎症反应、微生物特征相关的基因,以及影响呼吸系统和胃肠道系统等多个器官系统关键生理通路的其他基因。现有文献的局限性在于缺乏调查药物遗传学影响的临床研究以及基因修饰因子对 CF 临床表现的意义,包括数量有限的复制和验证研究。需要利用全基因组关联研究进一步调查其他潜在的基因修饰因子,以批判性地探索新的治疗目标,并更好地了解特定药物治疗下的 CF 疾病表型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review

Cystic fibrosis (CF) is a complex monogenic disorder with a large variability in disease severity. Growing evidence suggests that the variation observed depends not only on variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene but also on modifier genes. Utilizing five databases (including CINAHL, PubMed, Science Direct, Scopus, and Web of Science), a systematic review was conducted to examine the current literature on the known impacts of genomic variations in modifier genes on the CF disease progression, severity, and therapeutic response. A total of 70 full-text articles describing over 80 gene modifiers associated with CF were selected. The modifier genes included genes associated with the CFTR interactome, the inflammatory response, microbial profiles, and other genes affecting the critical physiological pathways of multiple organ systems, such as the respiratory and gastrointestinal systems. Limitations of the existing literature embrace the lack of clinical studies investigating pharmacogenetic impacts and the significance of gene modifiers on the CF clinical picture, including a limited number of replication and validation studies. Further investigations into other potential gene modifiers using genome-wide association studies are needed to critically explore new therapeutic targets and provide a better understanding of the CF disease phenotype under specific drug treatments.

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来源期刊
Human Mutation
Human Mutation 医学-遗传学
CiteScore
8.40
自引率
5.10%
发文量
190
审稿时长
2 months
期刊介绍: Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
期刊最新文献
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