Ehsan Rizk, Mohammed El-Arman, Azza El-Baiomy, Tharwat Kandil, Shereen Mourad, Ola Elmam
Background: Osteopontin (OPN) is a glycophosphoprotein produced by a variety of cells and has several important physiologic and pathologic roles including cancer pathogenesis through various signaling pathways. Genetic polymorphisms of OPN in 3'UTR and exon may be implicated in the carcinogenesis and progression of colonic carcinomas.
Objectives: This study aimed to find whether OPN rs9138 and rs1126616 single nucleotide polymorphisms were associated with increased risk and progression of Colorectal Carcinoma (CRC).
Subjects and methods: Randomized case control study conducted on 100 CRC patients and 100 apparently healthy subjects. All subjects were investigated for OPN rs9138 and rs1126616 genotyping and CEA, CA 19-9 and OPN plasma levels. The genotypes were assayed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) while tumor markers serum levels were measured by ELISA.
Results: The results revealed that AC genotype of rs9138 and CC and CT genotype of rs1126616 were associated with increased risk of CRC. The C allele of both rs9138, rs1126616, and the haplotypes C (rs1126616)- C (rs9138) and C (rs1126616)- A (rs9138) were associated with increased CRC risk. Serum OPN protein expression in CRC patients was significantly increased as compared to healthy controls and related to severity of the cancer.
Conclusion: The OPN rs9138 and rs1126616 gene polymorphism were associated with increased CRC risk and the OPN serum level could be used as a possible diagnostic and prognostic marker of CRC.