Genetic variations of mitochondrial genome modify risk and prognosis of hepatocellular carcinoma patients.


BACKGROUND Previous studies have indicated that mitochondrial genetic variations were associated with the risk of many cancers. However, there are few reports on the association between single nucleotide polymorphisms (SNPs) or haplogroups of mitochondrial DNA (mtDNA) and the risk or prognosis of hepatocellular carcinoma (HCC). METHODS In order to investigate the predictive and prognostic role of mtDNA SNPs and haplogroups in HCC, the mitochondrial genome of 188 HCC patients and 344 healthy controls were sequenced by next generation sequencing technology. Then, logistic regression analysis was used to determine the effect of mtDNA SNP or haplogroup on risk and prognosis of HCC patients. RESULTS The haplogroup M7 had an odds ratio (OR) of 0.47 (95% CI=0.24-0.91; P=0.026) to develop HCC. The frequency of 152T/C, 199T/C, 4048G/A, 9824T/C, 15784T/C, 16185C/T and 16399A/G was significantly different between HCC patients and the controls. In addition, multivariate analysis with COX hazards model showed that the patients with haplogroup M8 had lower survival rate than the patients with haplogroup D4 (HR=2.62, 95% CI=1.03-6.68; P=0.044). Three SNPs 15784T/C, 16185C/T and 16399A/G were also identified to have a statistically significant association with postoperative survival in HCC. CONCLUSIONS To date, these results provide the first evidence that mtDNA SNPs and haplogroups may be potential risk factors for susceptibility and survival of HCC patients.

DOI: 10.1016/j.clinre.2016.12.002

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@article{Chen2017GeneticVO, title={Genetic variations of mitochondrial genome modify risk and prognosis of hepatocellular carcinoma patients.}, author={Cheng Chen and Yanna Ba and Deyang Li and Xiaohong Du and Xin Lia and Hai Yang and Jiaze An and Jinliang Xing and Hushan Yang and Guanglong Dong and Xu Guo}, journal={Clinics and research in hepatology and gastroenterology}, year={2017}, volume={41 4}, pages={378-385} }