• Trembley, Janeen H.
• Badshah, Yasmin
• Justin, Saira
• Shabbir, Maria
• Ashraf, Naeem Mahmood
• Khan, Khushbukhat
• Khan, Naila
• Hasan, Zafarul
• Afsar, Tayyaba
• Danish, Lubna
• Razak, Suhail
• Almajwal, Ali

Abstract

<jats:title>Abstract</jats:title><jats:p>Hepatocellular carcinoma is a leading cause of cancer-related deaths due to its complexity in diagnosis, chemo-resistance, and aggressive nature. Identifying pathogenic single nucleotide polymorphism (SNP) in protein kinase C iota (PKCι) can be a potential biomarker in the prognosis and treatment of HCC. This study investigated the association between a SNP in PRKCI and the Pakistani population's hepatocellular carcinoma (HCC) risk. Obtained samples were first evaluated for ALT measurements and viral load quantification through reverse transcriptase-PCR. The PKCι nsSNP rs1199520604 was evaluated computationally by multiple consensus bioinformatics tools for predicting its potential deleterious effects. Its association with hepatitis C virus- (HCV) mediated HCC was then investigated through ARMS-PCR (Amplification Refractory Mutation System Polymerase Chain Reaction). SNP analysis of rs1199520604 was performed in 100 cases and 100 controls. Variant rs1199520604’s homozygous T genotype is a risk factor allele for the HCV-induced HCC (odds ratio: 4.13, relative risk: 2.01, <jats:italic>P</jats:italic>-value &lt; 0.0001). The heterozygous genotype is determined to protect HCV patients from HCC development (<jats:italic>P</jats:italic> &lt; 0.001). The study highlighted the disease association of variant rs1199520604 with HCV-induced HCC in the Pakistani populations. This variant, after further validation through high-throughput investigation on a larger cohort, has the potential to be translated at the clinical level.</jats:p>

Topics

• impedance spectroscopy
• refractory