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[Preprint]. 2023 Oct 6:2023.10.05.561076. [Version 1] doi: 10.1101/2023.10.05.561076

Figure 5. Allele- and cell-type specific promoter and enhancer activity of the prioritized SNPs on the shared DDX6-CXCR5 risk region.

Figure 5.

(A-E) gBlocks carrying the non-risk or risk alleles of (A) rs57494551, (B) rs4936443, (C) rs4938572, (D) rs7117261, or (E) rs4938573 were cloned into a promoter-less (pGL4.14; noP) or minimal promoter (pGL4.26; minP) luciferase vector. Plasmids were transfected into EBV B, Daudi, Jurkat, THP1, A253, or 293T cells. Luciferase activity was measured after 24 hours and normalized to the Renilla transfection control and then the vector-only control; reported as Relative Luciferase Activity. Statistical comparisons were performed using a paired t-test (n>3); p-values are indicated. (F) Summary analysis of the allele-specific luciferase activity of the five prioritized SNPs in EBV B, Daudi, Jurkat, THP1, A253 and 293Tcells. Increases in luciferase activity relative to non-risk are shown in purple; decreases relative to non-risk in orange; no change relative to non-risk in grey. (G) gBlocks carrying all non-risk or all risk alleles of rs4936443, rs4938572, and rs7117261 were cloned into the promoter-less or minimal promoter above, transfected into EBV B, Jurkat, THP1, A253, or 293T cells, and luciferase activity tested as described above. Statistical comparisons were performed using a paired t-test (n>3); p-values are indicated.