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遗传性肺纤维化的基础:概述。

Genetic Underpinnings of Pulmonary Fibrosis: An Overview.

机构信息

Division of Molecular Medicine, Bose Institute, P-1/12, CIT Scheme VII M, Kolkata, 700054, India.

出版信息

Cardiovasc Hematol Agents Med Chem. 2024;22(3):367-374. doi: 10.2174/0118715257261006231207113809.

Abstract

INTRODUCTION

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive disorder, in which genetic and environmental factors are involved in disease onset. Although, by definition, the disease is considered idiopathic in nature, evidence-based studies have indicated familial cases of pulmonary fibrosis, in which genetic factors contribute to IPF pathogenesis.

METHODS

Both common as well as rare genetic variants are associated with sporadic as well as familial forms of IPF. Although clinical inferences of the genetic association have still not been explored properly, observation-based studies have found a genotypic influence on disease development and outcome.

RESULTS

Based on genetic studies, individuals with a risk of IPF can be easily identified and can be classified more precisely. Identification of genetic variants also helps to develop more effective therapeutic approaches.

CONCLUSION

Further comprehensive research is needed to get a blueprint of IPF pathogenesis. The rapidly evolving field of genetic engineering and molecular biology, along with the bioinformatics approach, will possibly explore a new horizon very soon to achieve this goal.

摘要

简介

特发性肺纤维化(IPF)是一种慢性、进行性疾病,其发病涉及遗传和环境因素。尽管根据定义,该疾病在性质上被认为是特发性的,但基于证据的研究表明,肺纤维化存在家族病例,其中遗传因素导致 IPF 的发病机制。

方法

常见和罕见的遗传变异与散发性和家族性 IPF 都有关联。尽管遗传关联的临床推断尚未得到适当探索,但观察性研究发现遗传对疾病发展和结局有影响。

结果

基于遗传研究,可以轻易识别出有 IPF 风险的个体,并能更精确地进行分类。遗传变异的识别也有助于开发更有效的治疗方法。

结论

需要进一步进行全面研究以了解 IPF 发病机制的全貌。遗传工程和分子生物学领域的快速发展,以及生物信息学方法,可能很快就会探索到一个新的领域来实现这一目标。

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