Kim Kyung Won, Ober Carole
Department of Pediatrics, Severance Hospital, Institute of Allergy, Brain Korea 21 PLUS project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Allergy Asthma Immunol Res. 2019 Mar;11(2):170-187. doi: 10.4168/aair.2019.11.2.170.
Asthma is a common complex disease of the airways. Genome-wide association studies (GWASs) of asthma have identified many risk alleles and loci that have been replicated in worldwide populations. Although the risk alleles identified by GWAS have small effects and explain only a small portion of prevalence, the discovery of asthma loci can provide an understanding of its genetic architecture and the molecular pathways involved in disease pathogenesis. These discoveries can translate into advances in clinical care by identifying therapeutic targets, preventive strategies and ultimately approaches for personalized medicine. In this review, we summarize results from GWAS of asthma from the past 10 years and the insights gleaned from these discoveries.
哮喘是一种常见的气道复杂疾病。哮喘的全基因组关联研究(GWAS)已经确定了许多在全球人群中得到重复验证的风险等位基因和基因座。尽管GWAS确定的风险等位基因效应较小,仅解释了患病率的一小部分,但哮喘基因座的发现有助于了解其遗传结构以及疾病发病机制中涉及的分子途径。这些发现可通过确定治疗靶点、预防策略以及最终的个性化医疗方法,转化为临床护理的进展。在本综述中,我们总结了过去10年哮喘GWAS的结果以及从这些发现中获得的见解。