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. 2017 Mar 3;8:14616. doi: 10.1038/ncomms14616

Figure 3. rs7090445 is associated with lower ARID5B expression and reduced enhancer activity.

Figure 3

Expression quantitative trait loci (eQTL) analysis performed in HD-ALL trisomic for chromosome 10 for (a) rs7090445 and (b) rs7896246. Difference in RNA sequencing of ARID5B expression (RSEM) assessed by ANOVA test. rs7090445-C and rs7896246-A risk alleles show decreased expression over the protective allele. Allele-specific constructs containing the 818bp putative regulatory sequence flanking rs7090445 were cloned into the pGL3-promoter luciferase reporter vector and transfected into (c) REH and (d) SEM cell lines. The ratio of luminescence from the experimental pGL3-rs7090445 constructs to the Renilla internal control, pRL-SV40, normalized to the empty pGL3-SV40 promoter vector. Data shown are mean±s.e.m. from six independent experiments performed in triplicate. Difference in gene expression assessed by Student’s T-test. Luciferase data were normally distributed. The rs7090445-C risk allele has significantly decreased enhancer activity over the protective allele.