Figure 5

Reference LINE-1 elements act as eQTL in cis and trans. (a) Matrix eQTL analysis was performed in order to analyze the effect of LINE-1 elements to act as eQTL on a transcript-based level. 9014 transcripts were significantly affected (FDR P < 0.05) by LINE-1 insertion polymorphism, whereby the majority (98.96%) being trans-regulated by LINE-1 elements. (b) Transcripts of previously identified novel PD risk loci, including GBF1, KCNS3 and INPP5F were significantly affected by R_L1_160, R_L1_129 and R_L1_29 polymorphism, respectively. (c) Bar chart showing the number of transcripts affected by specific LINE-1 elements. Only LINE-1 elements with > 100 affected transcripts are shown. R_L1_160 which was associated with the highest number of PPMI progression markers (Fig. 2) is highlighted in red.