Because rs16969968 is rare in African Americans (minor allele frequency <0.05), we only used rs615470 to measure ASE. Applying the DB validity index, we detected the lowest DB index at the threshold between ASE = 1.52 and ASE = 2.53, which confirmed our threshold of relative ASE = 2 for AEI-positive and AEI-negative individuals (Figure 4a). Ten subjects were AEI-positive with 2.2 - 7.5-fold difference in relative ASE; 5 subjects were AEI-negative (Figure 4b). Our ANOVA analysis showed the difference of relative ASE between AEI-positive and AEI-negative subsets is statistically significant at p = 1.62×10−3. The correlation between two experiments of ASE assays is 0.97.
