Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study.

Non-alcoholic fatty liver disease (NAFLD) is one of the most common liver diseases, along with steatosis and non-alcoholic steatohepatitis (NASH), and is associated with cirrhosis and hepatocellular carcinoma. Candidate gene and genome-wide association studies have validated the relationships between NAFLD, NASH, PNPLA3, TM6SF2, and HFE. The present study utilized five polymorphisms in three genes: PNPLA3 (I148M and K434E) TM6SF2 (E167K), and HFE (H63D and C282Y), based on undocumented case−control studies in the Saudi Arabian population.

The prevalence of Factor V Leiden (Arg506Gln) mutation in King Khalid University Hospital patients, 2017-2019.

Arg506Gln mutation is responsible for one of the procoagulant factors and most common inherited thrombophilia in the Factor V Leiden (FVL) family. The replacement of the missense mutation for Arg506Gln / R506Q is at 1691st position from Guanine to Adenine with the modification of the amino acid from arginine to glutamine. The aim of this study was to investigate the current prevalence of the G1691A mutation in the FVL gene in the capital city's King Khalid University Hospitals (KKUH).