间质性肺疾病遗传学:夜间飞行卷。

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2015-04-29 eCollection Date: 2015-01-01 DOI:10.4137/CCRPM.S23283
Hiroshi Furukawa, Shomi Oka, Kota Shimada, Naoyuki Tsuchiya, Shigeto Tohma
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引用次数: 22

摘要

间质性肺病(ILD)是一种慢性进行性纤维化肺病,预后差。病因不明的ILD被称为特发性间质性肺炎(IIP),在大多数病例中是散发的。ILD常伴有类风湿性关节炎(RA)、系统性硬化症(SSc)、多发性肌炎/皮肌炎(PM/DM)和其他自身免疫性疾病,被称为胶原血管疾病相关性ILD (CVD-ILD)。ILD的易感性受遗传和环境因素的影响。放射成像技术的最新进展,如高分辨率计算机断层扫描(CT)扫描以及高通量基因组分析,为ILD的遗传学提供了见解。这些研究反复揭示了IIP(散发性和家族性)与粘蛋白5B (MUC5B)启动子区域的单核苷酸多态性(SNP)之间的关联。据报道,HLA-DRB1*11等位基因与欧洲SSc患者的ILD相关,而在日本RA患者中,确定了HLA-DR2血清学组。本综述的目的是描述散发性IIP、CVD-ILD、药物诱导的ild (DI-ILD)、尘肺病和超敏性肺炎的遗传背景。ILD的遗传学仍在研究中。然而,这一信息将增强对ILD发病机制的理解,并有助于确定未来个性化医疗的新治疗靶点。
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Genetics of Interstitial Lung Disease: Vol de Nuit (Night Flight).

Interstitial lung disease (ILD) is a chronic, progressive fibrotic lung disease with a dismal prognosis. ILD of unknown etiology is referred to as idiopathic interstitial pneumonia (IIP), which is sporadic in the majority of cases. ILD is frequently accompanied by rheumatoid arthritis (RA), systemic sclerosis (SSc), polymyositis/dermatomyositis (PM/DM), and other autoimmune diseases, and is referred to as collagen vascular disease-associated ILD (CVD-ILD). Susceptibility to ILD is influenced by genetic and environmental factors. Recent advances in radiographic imaging techniques such as high-resolution computed tomography (CT) scanning as well as high-throughput genomic analyses have provided insights into the genetics of ILD. These studies have repeatedly revealed an association between IIP (sporadic and familial) and a single nucleotide polymorphism (SNP) in the promoter region of the mucin 5B (MUC5B). HLA-DRB1*11 alleles have been reported to correlate with ILD in European patients with SSc, whereas in Japanese patients with RA, the HLA-DR2 serological group was identified. The aim of this review is to describe the genetic background of sporadic IIP, CVD-ILD, drug-induced-ILD (DI-ILD), pneumoconiosis, and hypersensitivity pneumonitis. The genetics of ILD is still in progress. However, this information will enhance the understanding of the pathogenesis of ILD and aid the identification of novel therapeutic targets for personalized medicine in future.

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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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