Single-nucleotide polymorphisms in dendritic cell (dendritic cell-specific intercellular adhesion molecule 3-grabbing...

Hepatocellular carcinoma (HCC) is one of the major causes of morbidity and mortality in the world. Numerous genomic and proteomic studies have been carried out across the globe to understand cancer biology related to HCC. Dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN) is also known as cluster of differentiation 209. The current study was designed to investigate the association of mutation in DC-SIGN promoter region in HCC patients and healthy controls and to analyze the association of these mutations as a risk factor for HCC development from India.

total of 40 cases of HCC and 40 healthy controls without any underlying liver diseases were included in the study. A total of 5 ml of peripheral blood samples were collected, and genomic DNA was isolated using phenol-chloroform method. Polymerase chain reaction amplification was carried out for DC gene, and the amplicons were subjected to direct sequencing (Macrogen, Korea). Mutations were analyzed comparing these sequences with those published sequences from the database using bioinformatics software.

A total of eight point mutations were observed in the HCC cases. The natures of mutation observed were deletion, transition, and transversion. All mutations were located in the 19^th chromosome at nine different loci (51,079, 51,493, 51,561, 51,124, 51,125, 51,127, 51,169, 51,170, and 51,172).

Mutation in the promoter region of the DC-SIGN gene may be a possible risk factor for the development of HCC in India. The findings of the study reveal the possible role of these mutants with HCC, and future large-scale prospective studies will further validate the findings of the current study.