Study of the association between a gene polymorphism and cholangiocarcinoma in Egyptian patients.

INTRODUCTION

An inflammatory environment is the common pathway for the development of cholangiocarcinoma (CCA). The natural killer group 2D receptor (NKG2D), an activating receptor for NK cells, is a potent immune axis in the antitumor and antimicrobial immune response through its binding to NKG2D ligands (NKG2DLs). NKG2DLs are normally absent or poorly expressed in most cells; conversely, they are upregulated in stressed cells. We studied the rs2596542 polymorphism located upstream of the gene, which encodes an NKG2DL, in patients with CCA as a marker for early disease detection and a possible therapeutic target.

MATERIAL AND METHODS

A case-control study was conducted on 40 patients with CCA and 45 healthy individuals (as controls). After routine examination, the rs2596542 polymorphism of the gene was investigated using real-time PCR.

RESULTS

We found that a TT homozygous genotype was significantly predominant in patients with CCA ( = 0.039), with the T allele being dominantly distributed in CCA ( = 0.007). High levels of CA19-9 were significantly associated with the TT genotype in the patients. However, we did not detect significant differences in rs2596542C/T genotype and allele distribution between patients with CCA with cirrhosis and those without cirrhosis ( > 0.05).

CONCLUSIONS

The MICA rs2596542 polymorphism may affect the susceptibility to CCA, but not its progression. The TT genotype could be used as a potential diagnostic marker for CCA and triggering the MICA pathway could be a promising therapeutic target.