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哮喘的基因检测

Genetic testing for asthma.

作者信息

Koppelman G H, te Meerman G J, Postma D S

机构信息

Dept of Paediatric Pulmonology and Paediatric Allergology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

出版信息

Eur Respir J. 2008 Sep;32(3):775-82. doi: 10.1183/09031936.00093608.

Abstract

Asthma is a genetically complex disease caused by multiple genetic and environmental factors. An increasing number of asthma susceptibility genes are currently being identified. The present study addresses the question as to whether this genetic information can be used to predict asthma, particularly in pre-school children. The predictive value of a single gene test in a complex disease is very limited for diagnostic or preventive purposes and thus cannot be recommended. Based on data of simulation studies and other complex diseases, the use of genetic profiling that incorporates multiple genetic risk factors holds promise for clinical application. The results of genome-wide association studies will be crucial in establishing this genetic risk profile for asthma. In the future, asthma prediction may be possible, based on a prediction model that incorporates genes, personal factors and environmental risk factors. Studies in general and at-risk populations are needed to investigate and validate this approach.

摘要

哮喘是一种由多种遗传和环境因素引起的基因复杂疾病。目前正在识别越来越多的哮喘易感基因。本研究探讨了这种基因信息是否可用于预测哮喘,特别是在学龄前儿童中。单基因检测在复杂疾病中的预测价值对于诊断或预防目的非常有限,因此不推荐使用。基于模拟研究和其他复杂疾病的数据,纳入多种遗传风险因素的基因谱分析在临床应用方面具有前景。全基因组关联研究的结果对于建立哮喘的这种遗传风险谱至关重要。未来,基于包含基因、个人因素和环境风险因素的预测模型,哮喘预测可能成为现实。需要在一般人群和高危人群中开展研究来调查和验证这种方法。

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