NHLBI TOPMed: The Genetics and Epidemiology of Asthma in Barbados

Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. The baseline prevalence of asthma in Barbados is high (~20%), and from admixture analyses, we have determined that the proportion of African ancestry among Barbadian founders is similar to U.S. African Americans, rendering this a unique population to disentangle the genetic basis for asthma disparities among African ancestry populations in general. We therefore performed whole genome sequencing on 1,100 individuals from the Barbados Genetics of Asthma Study (BAGS), in order to generate additional discovery of rare and structural variants that may control risk to asthma.

哮喘是一类复杂疾病，遗传因素与环境暴露之间的交互作用会影响疾病的易感性与预后转归。非洲血统哮喘患者的病情严重程度与临床症状往往较欧洲血统人群更为显著。巴巴多斯的哮喘基线患病率较高（约20%），通过遗传混合分析，我们确认巴巴多斯奠基人群的非洲血统占比与美国非裔人群相近，这使得该群体成为厘清总体非洲血统人群哮喘发病差异遗传基础的独特研究队列。为此，我们对巴巴多斯哮喘遗传学研究（Barbados Genetics of Asthma Study, BAGS）纳入的1100名个体开展全基因组测序，以期发掘更多可能调控哮喘发病风险的罕见变异与结构变异。