Gene variation

  • 文章类型: Journal Article
    矽肺是一种纤维化性质的肺病,由吸入和沉积含有结晶二氧化硅的粉尘引起。暴露于相同环境因素的受试者可能表现出不同的放射学表现。由于矽肺是一种多因素疾病,似乎个体遗传易感性可能在病理中起作用。这篇文献综述旨在评估有关矽肺遗传关联研究的现有数据,并描述可能影响暴露于二氧化硅个体的矽肺易感性的基因。
    我们使用与主题相关的术语,访问了PubMed数据库,以英文发表的有关矽肺个体间遗传易感性的文章。
    在评估过程之后,本系统综述包括28项研究,包括23项原始研究和5项荟萃分析。
    不管对矽肺基因变异重要性的认识有多大的进展,需要进行更多的研究,特别是,特殊的多基因和全基因组调查。
    Silicosis is a lung disease of fibrotic nature resulting from the inhalation and deposition of dust containing crystalline silica. Subjects exposed to the same environmental factors may show distinct radiological manifestations, and since silicosis is known as a multifactorial disease, it is plausible that individual genetic susceptibility may play a role in the pathology. This review of the literature aims to provide an assessment of the present data on the genetic association studies in silicosis and describe the genes that potentially might influence silicosis susceptibility in silica-exposed individuals.
    We accessed the database of PubMed for articles published in English about interindividual genetic susceptibility to silicosis using terms related to the subject matter.
    Following the evaluation process, 28 studies were included in this systematic review, including 23 original studies and 5 meta-analyses.
    Regardless of the advances in the knowledge of the importance of gene variations in silicosis, more studies need to be performed, in particular, special polygenic and genome-wide investigations.
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  • 文章类型: Journal Article
    OBJECTIVE: Excess weight gain is a result of the interaction between diet, environment, and genes. Evidence suggests that responses to lifestyle interventions to manage weight are partially modified by genetic factors. This review is aimed at summarizing the current evidence from studies done on gene variants - single nucleotide polymorphisms (SNPs) - and intervention outcomes on weight loss and obesity-related traits.
    METHODS: Intervention studies published in English between 2000 and August 2018 were retrieved from PubMed, Google Scholar, and Web of Science using various keywords.
    RESULTS: This article is a review of 36 studies conducted in 13 different countries which included a total of 15,931 participants between 19 and 70 years of age. The effect of 26 genes and 64 SNPs on the reduction of body weight and metabolic risk factors in response to diet, exercise, and lifestyle interventions was reviewed.
    CONCLUSIONS: Gene-lifestyle interaction studies on the same candidate gene in different populations have reported information which is challenging to interpret. Thus, it is difficult to arrive at a particular model for a strategy on weight management at this point in time. Most of the intervention studies focus on the effect of variants of a single candidate gene on weight loss. Further evidence from large-scale studies is necessary to assess the effect of multiple candidate genes to compute a gene score that could be used in a model intervention programme. Our review suggests that a healthy lifestyle with a balanced diet and regular physical activity will benefit individuals who carry the risk alleles of the obesity-related candidate genes. This message should be the mainstay of the recommendations and guidelines published by nutrition societies across the world.
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  • 文章类型: Journal Article
    Hepatocellular carcinoma (HCC) is one of the common malignant tumors. HCC gene regulatory network (HCC GRN), whose nodes consist of genes, miRNAs or TFs and whose edges consist of interaction relationships of nodes, is one of the important ways to study molecular mechanism of HCC. Based on various experimental data, types of HCC GRNs could be conducted such as TF-miRNA regulatory network. Integrating the studies of HCC GRN, TF-miRNA transcriptional regulatory network performs better in identifying core genes which play important roles in network disturbances. It is a trend that gene variations and transcriptional regulatory networks should be combined, however the corresponding research is almost blank. This review summarizes the source of HCC data sources, the classification, character, and research program of HCC GRN. Finally, according to present analysis and discussion of progress and research status of HCC GRN, we provide a useful reference for researchers.
    肝癌 (Hepatocellular carcinoma,HCC) 是我国常见的恶性肿瘤之一。肝癌基因调控网络 (HCC regulatory network,HCC GRN) 是研究肝癌分子机制的重要途径之一,其节点包括肝癌相关的分子,如miRNA、TF 等,网络的边由节点间相互作用关系构成。基于不同类型的数据构建的肝癌基因调控网络其类型及特征各有不同。综合近年来肝癌基因调控网络研究发现,由TF 与miRNA 构建的肝癌转录调控网络更能揭露肝癌关键基因,反映关键基因在调控网络中的扰动情况。整合基因变异信息与调控网络成为研究肝癌基因调控网络的趋势,但相应的研究几乎是空白的。本文从HCC GRN 的数据来源、分类及特征,及各类型调控网络的近年研究情况等方面进行综述,并结合相关研究工作对肝癌基因调控网络研究现状进行分析与讨论,对前景进行展望,为这一领域研究工作提供参考。.
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