In conclusion, the in silico/in vitro functional analyses in the present study showed the molecular mechanisms through which rs12946510 caused reductions in the transcriptional efficiency of ORMDL3 and GSDMB, i.e. the transcription factor FOXO1 showed a possible protective effect against the development of PBC by binding to the expression enhancer region which includes rs12946510. The gene discussed is GSDMB; the disease is primary biliary cholangitis.