Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 San Cristóbal de La Laguna, Tenerife, Spain.
Allergy Department, Hospital Universitario de Canarias, 38320 Santa Cruz de Tenerife, Tenerife, Spain.
Genes (Basel). 2023 Sep 20;14(9):1824. doi: 10.3390/genes14091824.
The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide insights into features that may be prevented or alleviated by therapeutical intervention. This review provides an overview of the different asthma endotypes and phenotypes and the genomic findings from asthma studies using patient stratification strategies and asthma-related traits. Asthma genomic research for treatable traits has uncovered novel and previously reported asthma loci, primarily through studies in Europeans. Novel genomic findings for asthma phenotypes and related traits may arise from multi-trait and specific phenotyping strategies in diverse populations.
在哮喘的全基因组关联研究的 15 年中，揭示了惊人数量的遗传变异，但这并没有跟上转化基因组学的目标。将哮喘诊断从一个非特异性的总称转变为特定的表型/内型和相关特征，可能会深入了解可能通过治疗干预预防或缓解的特征。这篇综述概述了不同的哮喘表型和内型，以及使用患者分层策略和与哮喘相关特征的哮喘研究中的基因组发现。针对可治疗特征的哮喘基因组研究揭示了新的和以前报道过的哮喘基因座，主要是通过欧洲人的研究。来自哮喘表型和相关特征的新的基因组发现可能来自于不同人群中的多特征和特定表型策略。
