Abstract
Background: Single nucleotide polymorphisms (SNPs) in the SLC10A1 gene, coding for a functional receptor of hepatitis B virus (HBV), sodium taurocholate co-transporting polypeptide (NTCP), may influence the susceptibility, outcome, and disease course of HBV infection in some populations. Aim: to determine the prevalence of SNPs of the NTCP gene, rs2296651 and rs943277, and their relationship with chronic HBV infection in a group of Egyptian patients. Methods: One hundred and thirty seven patients with HBV and 65 healthy controls were enrolled, and the patients were divided into two groups; group I chronic HBV infection (68 patients with normal ALT and minimal or no liver necroinflammation or fibrosis) and group II chronic hepatitis B (69 patients with elevated ALT and moderate or severe liver necroinflammation). They were subjected to full history taking, clinical examination, laboratory investigations, abdominal ultrasound, and liver stiffness measurement using both Echosens® Fibroscan and acoustic radiation force impulse (ARFI). A real time PCR TaqMan 5′ allelic discrimination assay was applied to detect the SNPs in the NTCP gene, rs2296651 and rs943277. Results: On studying the rs2296651 variant, all controls and patients had genotype GG without any significant association with HBV infection or disease progression. However, the rs943277 variant in all controls and 98% of patients had genotype GA, except for two chronic HBV infection patients who had genotype AA, but no significant difference between patients and controls was found. The non-invasive methods for liver fibrosis assessment ARFI, AST/platelet’s ratio (APRI), and fibrosis-4 score (FIB-4) could predict the stages of fibrosis in agreement with Fibroscan with AUCOR 0.8, 0.79, and 0.76, respectively. Conclusion: These findings may suggest that there is no relation between these SNPs of the NTCP gene and the susceptibility or chronicity of HBV infection in the Egyptian population. We also suggest that the use of the non-invasive methods for liver fibrosis assessment, ARFI, FIB-4, and APRI, may decrease the need for liver biopsies in the prediction of significant hepatic fibrosis in chronic HBV patients.
Highlights
Effective hepatitis B virus (HBV) vaccines are in use worldwide, infection with HBV is still a serious global health problem with significant morbidity and mortality.In 2017, the World Health Organization (WHO) estimated that approximately 2 billion people have evidence of past or present infection with HBV [1]
One of the recent genome-wide association studies (GWAS) studies is the study done by Huang et al that genotyped the 583,383 autosomal SNPs of 15,352 participants seropositive for HBV core antibodies in Taiwan Biobank and examined their associations with chronic HBV infection
The present study comprised 137 patients with HBV infection and 65 age-matched healthy volunteers as a control group recruited from Cairo Fatemic Hospital, Ministry of Health and Population (MOHP), and Cairo University Center for Hepatic Fibrosis (CUC-HF), Cairo University, between January 2019 and September 2019
Summary
Effective hepatitis B virus (HBV) vaccines are in use worldwide, infection with HBV is still a serious global health problem with significant morbidity and mortality.In 2017, the World Health Organization (WHO) estimated that approximately 2 billion people have evidence of past or present infection with HBV [1]. One of the recent GWAS studies is the study done by Huang et al that genotyped the 583,383 autosomal SNPs of 15,352 participants seropositive for HBV core antibodies in Taiwan Biobank and examined their associations with chronic HBV infection. Methods: One hundred and thirty seven patients with HBV and 65 healthy controls were enrolled, and the patients were divided into two groups; group I chronic HBV infection (68 patients with normal ALT and minimal or no liver necroinflammation or fibrosis) and group II chronic hepatitis B (69 patients with elevated ALT and moderate or severe liver necroinflammation) They were subjected to full history taking, clinical examination, laboratory investigations, abdominal ultrasound, and liver stiffness measurement using both Echosens® Fibroscan and acoustic radiation force impulse (ARFI). Results: On studying the rs2296651 variant, all controls and patients had genotype GG without any significant association with HBV infection or disease progression
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