Figure 4

A VAMP1 variant associated with decreased cerebellar VAMP1 is a functionally active repressor of expression. The reporter gene expression (ratio of firefly:renilla) for the minor allele sequence relative to that of the major allele sequence are plotted for the rs7390, rs12964 and rs2072376 variants transfected in HepG2 cells. DNA sequences were cloned 5′ (filled boxes) and 3′ (clear boxes) to the promoter. Unpaired T-tests were used to test for altered reporter gene expression between major and minor sequences. Error bars represent SEM (standard error of the mean). *p < 0.05, **p < 0.01 for t-test.