Abstract
Asthma is a complex disease with striking disparities across racial and ethnic groups. Despite its relatively high burden, representation of individuals of African ancestry in asthma genome-wide association studies (GWAS) has been inadequate, and true associations in these underrepresented minority groups have been inconclusive. We report the results of a genome-wide meta-analysis from the Consortium on Asthma among African Ancestry Populations (CAAPA; 7009 asthma cases, 7645 controls). We find strong evidence for association at four previously reported asthma loci whose discovery was driven largely by non-African populations, including the chromosome 17q12–q21 locus and the chr12q13 region, a novel (and not previously replicated) asthma locus recently identified by the Trans-National Asthma Genetic Consortium (TAGC). An additional seven loci reported by TAGC show marginal evidence for association in CAAPA. We also identify two novel loci (8p23 and 8q24) that may be specific to asthma risk in African ancestry populations.
Highlights
To address these disparities in asthma genetics research and the paucity of information on African genetic diversity, we previously established the Consortium on Asthma among African ancestry Populations in the Americas (CAAPA)[9]
The results of the genome-wide meta-analysis are summarized in Fig. 1b and c, and associations with MR-MultiEthnic Global Array (MEGA) association p < 10−6 are summarized in Table 2 and Supplementary Table 9
Eleven of the 18 loci recently identified in the Trans-National Asthma Genetic Consortium (TAGC) metaanalysis show evidence of association in Consortium on Asthma among African Ancestry Populations (CAAPA), including strong evidence for four different regions
Summary
We used the MEGA to genotype additional African ancestry asthma studies with no previously existing genome-wide genotype data (one African American, three South American, and two Caribbean studies), and imputed genotypes on these subjects using the CAAPA reference panel. Sample populations, their ascertainment, and clinical characteristics are described in detail in the Supplementary Note 1, Table 1 and Supplementary Table 1. Further replication efforts are necessary to provide robust evidence of replication for these chromosome 6 and 8 loci
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