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Polymorphisms in Natural Killer Cell Receptor Protein 2D (NKG2D) as a Risk Factor for Cholangiocarcinoma
Christopher A Wadsworth1, Peter H Dixon2, Simon Taylor-Robinson1
1Digestive Health Section, Department of Surgery and Cancer, St Mary's Hospital Campus, Imperial College London, London, United Kingdom.
Journal of Clinical and Experimental Hepatology
|April 27, 2019
Summary
Genetic variations in the natural killer cell receptor G2D (NKG2D) gene are not linked to increased risk of sporadic cholangiocarcinoma (CC). This finding contrasts with previous studies on CC associated with Primary Sclerosing Cholangitis (PSC).
Area of Science:
- Genetics
- Oncology
- Immunology
Background:
- Cholangiocarcinoma (CC) genetic risk factors are not well understood.
- Natural killer cell receptor G2D (NKG2D) gene polymorphisms are implicated in CC risk for Primary Sclerosing Cholangitis (PSC) patients.
Purpose of the Study:
- To validate the association of NKG2D gene polymorphisms with CC risk in patients without PSC.
- To investigate the role of common NKG2D genetic variations in sporadic CC pathogenesis.
Main Methods:
- Genotyping of seven Single Nucleotide Polymorphisms (SNPs) in the NKG2D gene.
- Analysis of 164 CC cases and 257 controls using HaploView.
- Inclusion of SNPs rs11053781 and rs2617167 based on prior Scandinavian study findings.
Main Results:
- No significant association was found between the seven genotyped NKG2D SNPs and CC risk.
- Haplotype analysis showed no significant difference in frequency between CC cases and controls (P > 0.1).
Conclusions:
- Common genetic variations in NKG2D do not significantly correlate with sporadic CC risk.
- This contrasts with findings in PSC-related CC, suggesting different pathogenic mechanisms.
- Further studies are needed to explore the complex genetic susceptibility in both sporadic and PSC-related CC.
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