Maria Shabbir, Yasmin Badshah, Khushbukhat Khan, Janeen H Trembley, Areeb Rizwan, Fatima Faraz, Syeda Alveena Shah, Mahrukh Farooqi, Naeem Mahmood Ashraf, Tayyaba Afsar, Ali Almajwal, Nawaf W Alruwaili, Suhail Razak
BMC cancer 2022 May 07Hepatocellular carcinoma (HCC) is one of the most prevalent types of cancer and is responsible for close to one million annual deaths globally. In Pakistan, HCC accounts for 10.7% of cancer incidence. Prior studies indicated an association between interleukin 4 (IL-4) and cytotoxic T lymphocyte protein 4 (CTLA-4) gene polymorphisms in many types of cancers, including HCC that are either hepatitis B virus (HBV)- or hepatitis C Virus (HCV)-induced. The association of IL-4 and CTLA-4 genetic polymorphisms with HCV-induced HCC is not yet determined in the Pakistani population. Therefore, this research is designed to investigate the implication of IL-4 and CTLA-4 gene polymorphisms by determining the association of IL-4 -590 C/T (rs2243250) and CTLA-4 + 49 A/G (rs231775) with HCC in Pakistan. Different bioinformatics tools were employed to determine the pathogenicity of these polymorphisms. Samples were collected from HCV-induced HCC patients, followed by DNA extraction and ARMS-PCR analysis. The SNP analysis results indicated a positive association of IL-4 -590C/T and CTLA-4 + 49A/G gene polymorphisms with HCV-induced HCC in Pakistan. The CTLA-4 polymorphism might enhance therapeutic efficiency of HCC chemotherapy medicines. The IL-4 polymorphism might introduce new transcription factor binding site in IL-4 promoter region. This study delineated risk factor alleles in CTLA-4 and IL-4 genes associated with HCV-mediated HCC among Pakistani patients that may have application to serve as genetic markers for pre- and early diagnosis and prognosis of HCC in HCV patients. © 2022. The Author(s).
Maria Shabbir, Yasmin Badshah, Khushbukhat Khan, Janeen H Trembley, Areeb Rizwan, Fatima Faraz, Syeda Alveena Shah, Mahrukh Farooqi, Naeem Mahmood Ashraf, Tayyaba Afsar, Ali Almajwal, Nawaf W Alruwaili, Suhail Razak. Association of CTLA-4 and IL-4 polymorphisms in viral induced liver cancer. BMC cancer. 2022 May 07;22(1):518
PMID: 35525950
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