RASSF1A, RECK genotypes and haplotypes in Egyptian population with Hepatocellular carcinoma

• RASSF1A and RECK gene polymorphisms are risk factor for HCC in Egyptian population.
• RASFA1 A1a/Ser, Ser/Ser genotypes and Ser allele are risk factor for HCC development.
• A1a/Ser + GA haplotypes are risk factor for HCC development.
• RECK GG, G allele and haplotype A1a/A1a + GG are protective to HCC.
• HCC immune therapy can be modulated by these tumor suppressor gene polymorphisms.

Background and objectivesThe development of HCC is multifactorial, resulting from the interaction of environmental factors (possibly hepatitis viruses) and host factors (genetic factors). So identification of risk factors that contribute to HCC and thus early diagnosis and therapy is necessary. This study aimed to investigate the role of tumor suppressor genes RASSF1A Ala133Ser and RECK rs11788747polymorphisms and their haplotypes in HCC.Subjects and methods104 cases of HCC and 100 healthy controls were included in a case-control study. RASSF1A and RECK genotypes, allele and haplotypes were detected by PCR-RFLP.ResultsRisk of HCC was significantly associated with carriers of A1a/Ser, Ser/Ser, Ser allele and A1a/Ser +GA haplotypes (OR = 20.57, p < 0.001, OR = 7.26, p = 0.05, OR = 10.64, p < 0.001, OR = 12.52, p = 0.005) respectively. More over RECK GG, G allele and haplotype A1a/A1a + GG were protective to HCC (OR = 0.11, p < 0.001, & OR = 0.53, p = 0.001 & OR = 0.16, p = 0.002) respectively. Also, it was found that RASSF1A gene polymorphism significantly associated with bad pathological features but no association with RECK gene polymorphism.ConclusionsThe RASSF1AAla133Ser polymorphism, RECK gene polymorphism and for the first time haplotype of both genes influence molecular carcinogenesis and clinic pathological features of HCC within the Egyptian population.