Association of p-glycoprotein and bile salt export pump gene polymorphisms with advanced liver disease in hepatitis C virus infected patients

BACKGROUND: Single-nucleotide polymorphisms (SNPs) can influence the hepatitis C virus (HCV) infection and progression. ABCB1-gene SNPs - c.1236C>T, c.2677G>T and c.3435C>T - are associated with drug efficacy, hepatotoxicity, and liver injury. ABCB11 c.1331T>C is associated with cholestasis and altered bilirubin levels, potentially worsening liver disease. OBJECTIVE: To investigate the impact of ABCB1 and ABCB11 SNPs on disease progression in chronic HCV patients. METHODS: A total of 232 HCV patients unresponsive to conventional therapy were analysed. Serum samples were genotyped by quantitative polymerase chain reaction (qPCR), and the genotype and allele-based analysis was performed using RStudio. FINDINGS: Cirrhosis was present in 59.1% of patients, along with diabetes (28.4%) and hepatic steatosis (46.1%). The most frequent ABCB1 variant allele was c.3435C>T (36.8%), followed by c.1236C>T (30.8%) and c.2677G>T (26.7%). The ABCB11 c.1331CC genotype was observed in 31.3% of the cohort. Genotypes 1236TT and 2677TT and their alleles were associated with lower total cholesterol. 2677TT genotype and 2677T allele were associated with lower high-density lipoprotein. Patients with 1331CC genotype had higher aspartate aminotransferase levels, and the 1331CC genotype was a risk factor for cirrhosis. A fully variant combined allele (1236T and 2677T and 3435T and 1331C) was associated with higher alpha-fetoprotein and lower cholesterol. MAIN CONCLUSIONS: ABCB1 and ABCB11 SNPs are associated with worse clinical outcomes in HCV, underscoring their relevance in disease monitoring.