Figure 1 | Scientific Reports

Figure 1

From: rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Figure 1

Identification of primary functional variants from candidate SNPs. (A,B) EMSA of each of the six candidate SNPs using biotin-labeled probes corresponding to major and minor alleles and nuclear extracts of Jurkat (A) and HepG2 (B) cells. rs1944919 was the only variant to exhibit a difference in mobility between the two alleles. (C) Outline of reporter plasmid constructs. PCR fragments containing rs1944919 were sub-cloned into the pGL4.23 vector. (D–F) Transcription was measured by cellular luciferase activity 24 h after transfection of Jurkat (D), HepG2 (E), and Raji (F) cells. The luciferase activity of cells transfected with the PBC susceptibility allele (G allele) of rs1944919 was increased compared with that of cells transfected with the T allele. Three independent experiments with triplicate measurements were performed for each assay. Data represent the mean ± SD; * P < 0.05 (Student’s t test).

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