肺纤维化的遗传基础:概述。

Sushweta Mahalanobish, Sumit Ghosh, Parames C Sil
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摘要

简介特发性肺纤维化(IPF)是一种慢性进行性疾病,发病与遗传和环境因素有关。虽然根据定义,该病属于特发性疾病,但循证研究表明,在家族性肺纤维化病例中,遗传因素是导致 IPF 发病的原因之一:方法:常见和罕见的遗传变异均与散发性和家族性 IPF 有关。方法:常见和罕见的遗传变异均与散发性和家族性 IPF 有关。虽然遗传关联的临床推论尚未得到充分探讨,但基于观察的研究发现,基因型对疾病的发展和预后有影响:结果:基于基因研究,可以很容易地识别出有患 IPF 风险的个体,并对其进行更精确的分类。鉴定基因变异也有助于开发更有效的治疗方法:要获得 IPF 发病机制的蓝图,还需要进一步的综合研究。快速发展的基因工程和分子生物学领域,以及生物信息学方法,可能很快就会为实现这一目标开拓出一片新天地。
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Genetic Underpinnings of Pulmonary Fibrosis: An Overview.

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.

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