增强子/超级增强子是多种癌基因的驱动因子，在肿瘤的发生中发挥重要作用，并且具有显著的细胞/组织特异性。同时，增强子相关的遗传变异可改变转录因子的结合，引起关键致病基因的表达异常，最终导致肿瘤等疾病的发生。因此，本项目拟通过基因组学、表观基因组学和转录组学等多组学研究方法，人群研究与体内外实验相结合，鉴定中国人群肺癌特异的增强子/超级增强子，并阐明相关遗传变异通过影响增强子调控的靶基因进而参与肺癌发生的具体机制。结果有助于发现中国人群肺癌特异的调控元件及致病基因，将为阐明肺癌发生机制、高危人群筛查及研发治疗靶标等提供新思路。

Some studies have shown that enhancers/super-enhancers play a crucial role in the development of cancers, which can drive the expression of important oncogenes and be specific in different cells and tissues. Furthermore, enhancer-related genetic variations can change the binding of transcription factors, cause abnormal expression of important genes, and eventually lead to tumors and other diseases. Therefore, through integration of genomics, epigenomics and transcriptome, combined with population study and experiments, we aim to identify the specific enhancers/superenhancers of lung cancer , and clarify specific mechanism by which genetic variations affect the risk of lung cancer by influencing the target genes of enhancer regulation. These findings will be helpful to discover the specific regulatory elements and pathogenic genes of lung cancer in Chinese population, and provide new ideas for elucidating the mechanism of lung cancer, screening and prevention of high-risk groups, and developing new therapeutic targets.