Fig. 3.

The rs116446171 variants affect reporter activity and cell proliferation. a EGFP reporter activity in HEK293T stably transduced cell lines. Cells transduced with the risk variant (G) showed significantly increased fluorescence levels of EGFP compared to the cell lines transduced with the wild type (WT, (C); P = 0.012). Cells transduced with the Null (Δ) had decreased EGFP fluorescence (P = 0.054, n = 14), and cells transduced with the commercial 3′UTR of EXOC2 showed significantly decreased EGFP fluorescence (P < 0.0001, n = 14). Data are expressed as mean fold change relative to the cells transduced with the vector, ±standard error of the mean (s.e.m.), n = 14 replicates. **P < 0.01, ****P < 0.0001. b Quantitative PCR analysis of EGFP transcripts in HEK293T stably transduced cell lines. Significant changes of EGFP mRNA levels were detected in cells harboring the variant allele compared to the cells harboring the wild-type allele (P = 0.031). Cells harboring the Null allele had reduced EGFP transcripts levels (P = 0.036). Data are expressed as mean % change relative to the endogenous controls, ±s.e.m., n = 9 replicates for each experiment. *P < 0.05. c Proliferation assay of cells harboring rs116446171, the deletion (Null) of an 18-bp segment centered on rs116446171, and the commercial 3′UTR reporter. The cell line transduced with the variant allele showed significantly increased cell proliferation compared to the cell lines transduced with the EXOC2 3′UTR, the WT and the Null. Data are expressed as mean fold change of the cell line in the day seeded, ±s.e.m., n = 9 replicates. ****P < 0.0001. All P-values were calculated with unpaired t-test