Figure 1.
Overview of DNA methylation QTL analysis study design. Schematic summarizing the main steps used to identify functional STRs that modulate local DNA methylation profiles. Briefly, we performed (1) pairwise association analysis between STR length and DNA methylation levels within ±50 kb in a discovery cohort, (2) replication analysis in a second independent cohort, (3) fine-mapping analysis to define a set of causal mSTRs that act as DNA methylation regulators in cis, and finally (4) evaluation of the contribution of fine-mapped mSTRs to human traits by integration of tag SNVs with published GWAS signals.
