Figure 3. eSTR associations in the context of eSNPs.
(a) Schematic of the eSTR effect versus the effect conditioned on the lead eSNP genotype. Under the null expectation, the original association (red line) comes from mere tagging of eSNPs. Thus, the eSTR effect disappears when restricting to a group of individuals (dots) with the same eSNP genotype (colored patches). Under the alternative hypothesis, the effect is concordant between the original and conditioned associations (b) The original eSTR effect versus the conditioned eSTR effect. Red points denote eSTRs whose direction of effect was concordant in both datasets and gray points denote eSTRs with discordant directions (c) Quantile-quantile plot of p-values from ANOVA testing of the explanatory value of eSTRs beyond that of eSNPs (d) STK33 is an example of a gene for which the eSTR (red rectangle) has a strong explanatory value beyond the lead eSNP (blue circle) based on ANVOA. When conditioning on individuals that are homozygous for the “C” eSNP allele (bottom left, green dots), the STR dosage still shows a significant effect (bottom right) (e) C11orf24 is an example of a gene for which the eSTR was part of the discovery set but did not pass the ANOVA threshold. After conditioning on individuals that are homozygous for the “G” eSNP allele (bottom left, green dots), the STR effect is lost (bottom right).