Individuals with PBC-susceptible genotypes (i.e. CT and TT) of rs12946510 showed significant decreases in the expression level of ORMDL3 and GSDMB in whole blood (Fig. 5A and B; n = 338; P = 3.80 × 10−21 and P = 8.58 × 10−21, respectively) and in the spleen (Fig. 5C and D; n = 89; P = 8.56 × 10−7 and 5.44 × 10−8, respectively). The gene discussed is ORMDL3; the disease is primary biliary cholangitis.