Fig. 5

Clinical phenotype associations with the novel variants and haplotype 4. A Correlation plot of the seven asthma-associated quantitative phenotypes in African American children from the URECA and APIC cohorts and their association with rs113282230 genotypes. B Bar plot showing the frequency of the 5-SNP high-risk haplotype 4 by STEP classification categories (mild, moderate, and severe) [47] in African American adults from Chicago. Severity categories and sample sizes are shown on the x-axis and the frequency of haplotype 4 is shown on the y-axis. Haplotype 4 was used as a surrogate for the nine novel SNPs because neither whole-genome sequences nor imputed genotypes for these variants were available for these individuals. C Bar plot of the frequencies of asthma severity categories in African American adults with asthma who carry at least one rs2305480-G allele, stratified by the presence or absence of haplotype 4 (x-axis). None of these individuals were homozygous for haplotype 4