Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Human Development and Health, and Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.
Lancet Respir Med. 2014 May;2(5):405-15. doi: 10.1016/S2213-2600(14)70012-8. Epub 2014 May 2.
Unbiased genetic approaches, especially genome-wide association studies, have identified novel genetic targets in the pathogenesis of asthma, but so far these targets account for only a small proportion of the heritability of asthma. Recognition of the importance of disease heterogeneity, the need for improved disease phenotyping, and the fact that genes involved in the inception of asthma are likely to be different from those involved in severity widens the scope of asthma genetics. The identification of genes implicated in several causal pathways suggests that genetic scores could be used to capture the effect of genetic variations on individuals. Gene-environment interaction adds another layer of complexity, which is being successfully explored by epigenetic approaches. Pharmacogenetics is one example of how gene-environment interactions are already being taken into account in the identification of drug responders and non-responders, and patients most susceptible to adverse effects. Such applications represent one component of personalised medicine, an approach that places the individual at the centre of health care.
无偏遗传方法，尤其是全基因组关联研究，已经确定了哮喘发病机制中的新的遗传靶点，但到目前为止，这些靶点仅占哮喘遗传率的一小部分。对疾病异质性重要性的认识、对改善疾病表型的需求，以及参与哮喘起始的基因可能与参与严重程度的基因不同，这拓宽了哮喘遗传学的范围。参与多个因果途径的基因的鉴定表明，遗传评分可用于捕捉遗传变异对个体的影响。基因-环境相互作用增加了另一层复杂性，这正在通过表观遗传学方法得到成功探索。药物遗传学是基因-环境相互作用如何已经被考虑在内的一个例子，用于确定药物应答者和非应答者以及最易受不良反应影响的患者。这些应用代表了个性化医学的一个组成部分，这种方法将个体置于医疗保健的中心。
