MALAT1 Gene Polymorphism (rs 4102217) as a Risk Factor for HCC: A Case Control Study among patients in South Egypt

Background and aim: Hepatocellular Carcinoma is one of the most common malignancies world-wide. Polymorphisms in MALAT1 have been demonstrated to play critical roles in cancer. However, the roles of MALAT1 polymorphisms in the etiology of Hepatocellular Carcinoma have not been well documented. So we aimed to evaluate the MALAT1 (rs4102217G>C) gene polymorphism in Egyptian HCC patients.
Patients and Methods: Our study was conducted on one hundred HCC patients. Age ranged from 40 year to 80 years old with median age 65 years and fifty healthy age and sex matched controls. We genotyped MALAT1 Polymorphism using quantitative polymerase chain reaction with TaqMan probes. To evaluate the association between MALAT1 polymorphism (rs4102217G>C) and the risk of HCC, Comparison of quantitative variables between the study groups was done using student t test. For comparing categorical data, Chi square (χ2) test was performed. Exact test was used instead when the expected frequency is less than 5. Odds ratio (OR) with 95% Confidence Interval (CI) and Logistic Regression was calculated to measure the different risk factors for HCC. P-value is always 2 tailed set significant at 0.05 level.
Results: We found that the MALAT1 (rs4102217 G>C) polymorphism was significantly associated with HCC risk. further analysis demonstrated that the MALAT1 rs4102217 G>C polymorphism may increase the severity of HCC as CG genotype and the recessive model of rs4102217 polymorphism showed stronger relations with advanced HCC cases with multiple hepatic focal lesions regarding data from imaging studies (P =0.019 ) .
Conclusion: Our data suggest that MALAT1 rs4102217 G>C polymorphism was significantly associated with HCC risk and Progression in Egyptian patients