Relation between genetic variations of sodium taurocholate co-transporting polypeptide NTCP gene (SLC10A1) and HBV infection status in a group of Egyptian patients / Fatma Elrashdy Mostafa Mohamed ; Supervised Maissa Elsaid Elraziky , Naglaa Ali Zayed , Yasmin Saad Ibrahim

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Tropical Medicine

Background:Single nucleotide polymorphisms (SNPs) in SLC10A1 gene, coding for sodium taurocholate co-transporting polypeptide(NTCP) functional receptor of HBV, have been showed to be associated with natural history of HBV infectionin some populations. Aim: to determine the prevalence of SNPs of NTCP gene, rs2296651 and rs943277, and their relation with HBV infection status in a group of Egyptians. Methods:One hundred and thirty seven patients with HBV infection and 65healthy controls wererecruited from Cairo Fatemic Hospital, Ministry of Health and Population (MOHP), Cairo University Center for Hepatic Fibrosis (CUC-HF); funded by STDF (5274 center of excellence) and Endemic Medicine Department, Faculty of Medicine, Cairo University. They were subjected to full history taking, clinical examination, laboratory investigations, abdominal ultrasound and LSM using both Echosens® Fibroscan and ARFI.TaqMan 5{u2019} allelic discrimination assaywas applied to detect single nucleotide polymorphisms(SNPs) in sodium taurocholate co-transporting polypeptide(NTCP) gene, rs2296651 and rs943277.The patients were divided into two groups; Group I (chronic HBV infection, 68 patients) and Group II (chronic hepatitis B, 69 patients). Results:Out of 137 patients who were enrolled, 70 % were males. The mean age was 44 ± 13years. On studying rs2296651 variant, all controls and patients had genotype GG without any significant association with HBV infection or disease progression. As regards rs943277 variant, 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, APRI and FIB-4 were capable of prediction of stages of fibrosis in agreement with Fibroscan with AUCOR 0.8, 0.79 and 0.76 respectively

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