Fig. 3

Validation of the regulatory effect of the TF binding–disrupting SNPs. a The luciferase expression of the constructs carrying the G allele of rs7570 was significantly higher than that of constructs carrying the C allele in all three tested cell lines. b The G allele of rs228769 showed significantly higher luciferase activity than the C allele in all three tested cell lines. c The constructs containing the C allele of rs10994322 produced significantly higher luciferase activity than the constructs containing the T allele in all three tested cell lines. d The constructs carrying the C allele of rs2251219 exhibited significantly higher luciferase activity than the constructs carrying the T allele in all three tested cell lines. Notably, this result was inconsistent with the previously published study by Yang et al. [61], likely because of the different lengths (in this study, 513 bp; in Yang et al. study, 435 bp) and directions (in this study, 5′ to 3′; in yang et al. study, 3′ to 5′) of the DNA fragments containing rs2251219 in the pGL3-Promoter vector between the studies. e The reporter vectors containing the C allele of rs72694957 showed significantly higher luciferase activity than those containing the T allele in SH-SY5Y and U251 cells. f The reporter vectors containing the G allele of rs1814518 displayed significantly higher luciferase activity than those containing the C allele in SH-SY5Y and U251 cells. g The luciferase expression of the vectors containing the G allele of rs2071507 was significantly higher than that of the vectors containing the A allele in SH-SY5Y and U251 cells. h The constructs carrying the A allele of rs113779084 produced significantly higher luciferase activity than those carrying the G allele in SH-SY5Y and U251 cells. N = 8 per group for HEK293T cells, n = 8 for the control group, and n = 16 per experimental group for SH-SY5Y cells and U251 cells. Two-tailed Student’s t test. *P < 0.05, **P < 0.01, ***P < 0.001