Fig. 3
Functional analysis of lead SNP rs10128627. (A) The effect of rs10128627 on NEAT1 expression in brain tissues and blood based on data from GTEx. (B, C) The schematic diagram shows the structure of firefly luciferase reporter plasmid. (D) The plasmid with the variant T > C significantly increased the ratio of firefly/Renilla luciferase reporter gene expression compared to the wild type. Data are shown as the mean ± SEM values and are the result of three independent experiments. *P < 0.05, **P < 0.01 and ***P < 0.001. NES, normalized effect size. (E) RT-qPCR analysis of peripheral blood mononuclear cells (PBMCs) showing higher expression of NEAT1 in patients with variant rs10128627. Pneat1 denotes the promoter of NEAT1.