A rare CHD5 haplotype and its interactions with environmental factors predicting hepatocellular carcinoma risk

罕见的 CHD5 单倍型及其与预测肝细胞癌风险的环境因素的相互作用

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作者:Qin Xiao, Lianzhou Chen, Haiqing Luo, Hongmei Li, Qingming Kong, Fei Jiao, Shifeng Pang, Ming Zhang, Feifei Lan, Wenguo Fan, Hui Luo, Tao Tao, Xiao Zhu

Background

CHD5 is a conventional tumour-suppressing gene in many tumours. The

Conclusions

Our results suggest that the rare CHD5 gene haplotype and alcohol intake contribute to the risk of HCC. Our findings can be valuable to researchers of cancer precision medicine looking to improve diagnosis and treatment of HCC.

Methods

Gene variants were identified using next-generation sequencing targeted on referenced mutations followed by TaqMan genotyping in two case-control studies.

Results

We discovered a rare variant (haplotype AG) in CHD5 (rs12564469-rs9434711) that was markedly associated with the risk of HCC in a Chinese population. A logistical regression model and permutation test confirmed the association. Indeed, the association quality increased in a gene dose-dependent manner as the number of samples increased. In the stratified analysis, this haplotype risk effect was statistically significant in a subgroup of alcohol drinkers. The false-positive report probability and multifactor dimensionality reduction further supported the finding. Conclusions: Our results suggest that the rare CHD5 gene haplotype and alcohol intake contribute to the risk of HCC. Our findings can be valuable to researchers of cancer precision medicine looking to improve diagnosis and treatment of HCC.

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