Etude des marqueurs immunologiques et genetiques de la cholangite biliaire primitive dans la region de SETIF

Abstract

Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease characterized by progressive destruction of the small intrahepatic bile ducts. Without treatment, it can progress to cirrhosis and end-stage liver failure. In Algeria, data on the immunological and genetic profiles of PBC patients remain scarce. The main objective of this study was to characterize the immunological profiles of PBC patients in the Sétif region and to assess their clinical correlations. Secondary objectives included the evaluation of selected genetic polymorphisms (SNPs) and the detection of novel specific autoantibodies. This was a case-control study conducted from March 2022 to November 2024, including fifty-six patients fulfilling the EASL (2018) diagnostic criteria for PBC and fifty-six matched healthy controls. The analysis involved detection of autoantibodies (ANA, AMA-M2, SP100, GP210, PML, anti-HK1, anti-KLHL12), immunoglobulin levels, complement fractions, specific serum proteins, and five genetic polymorphisms analyzed by real-time PCR (TaqMan® technology). AMA-M2 was detected in 80.4% of patients. The addition of anti-SP100 and anti-GP210 raised the diagnostic sensitivity to 92.9%, significantly reducing cases. A predominant elevation of IgG was observed in the majority of patients. Anti-HK1 antibodies were present in 36% of cases and were absent in healthy controls. A significant association was found between the rs5029939 polymorphism of the TNFAIP3 gene and advanced liver complications, while the other SNPs (IRF5, IRF7, STAT4, CD247) showed no significant associations. PBC patients in the Sétif region display an immunological profile largely comparable to that reported in Western countries, with notable particularities, especially the predominant IgG elevation. These findings highlight the value of an integrated diagnostic approach combining serological markers and genetic analyses to better identify and understand severe disease forms.