Association between extracellular matrix protein 1 (ECM1) gene polymorphisms (rs3834087 and rs3754217) and Hepatitis B Virus evolution in an African cohort.

Hepatitis B virus (HBV) is a significant cause of liver disease and cancer worldwide. Understanding the genetic factors influencing HBV evolution is crucial for developing effective prevention and treatment strategies. Host genetic and environmental factors particularly influence the evolution of this infection. Recent studies have implicated the ECM1 gene in HBV pathogenesis, mainly two specific polymorphisms (rs3834087 and rs3754217). In an African cohort, we comprehensively analyzed these ECM1 gene polymorphisms and their association with HBV evolution.In this case-control analysis, 167 samples, consisting of 59 controls and 108 cases, were examined. The cases included 50 patients with Chronic Hepatitis B(CHB), 16 with cirrhosis, and 42 with hepatocellular carcinoma (HCC). Genomic DNA extraction was executed using INVITROGEN and FAVORGEN kits. Genotyping of rs3834087 and rs3754217 polymorphisms in the ECM1 gene was accomplished via real-time PCR on the QuantStudioTM 5 Real-Time instrument, followed by allelic discrimination using TaqMan Genotyper Software. Data was interpreted using SPSS version 20 and Epi info version 7.5.2.0. Odds ratios (OR), confidence intervals (CI), and p-values were derived for risk and significance evaluation.In our study, the heterozygous genotype (GT) of rs3754217 could confer protection to controls against the onset of chronic hepatitis in the event of infection (OR=0.05; CI=0.006-0.46; p=0.002). In addition, carriage of mutated alleles of the two (2) polymorphisms was associated with the course of infection and may influence the appearance of severe forms at certain stages of the disease.Our study is the first to assess the association between polymorphisms (rs3834087 and rs3754217) in the ECM1 gene and the course of HBV infection in Burkina Faso. It showed that combining specific genotypes of the two (2) polymorphisms would be associated with protection against chronic hepatitis.