Variation_91720 拷贝数变异与食管鳞癌易感性的关联研究.docVIP

Variation_91720拷贝数变异与食管鳞癌易感性的关联研究 刘 曦1，吴园园2，，，）Association study of Variation_91720 with esophageal squamous cell carcinoma susceptibility Liu Xi 1, Wu Yuanyuan 2, Tao Huansheng 2, Guan Xingying 2, Zhang Kun 2, Yang Kang 1(Department of Cardiothoracic Surgery, Southwest Hospital, Third Military Medical University, Chongqing, 4000381;Department of Medical Genetics, Third Military Medical University, Chongqing, 400038, China2) [Abstract]　Objective The present study aimed to investigate the potential association between copy number variation(CNV)of Variation_91720 in PIK3CA and esophageal squamous cell carcinoma(ESCC) susceptibility. Methods 149 ESCC patients and 205 healthy controls were included. The copy number of Variation_91720 in peripheral blood and the expression of PIK3CA in tumor and adjacent tissues were detected by real-time fluorescence quantitative polymerase chain reaction (RT-PCR) based on TaqMan? and SYBR Green respectively. Results The copy number distribution of Variation_91720 in ESCC cases was significantly different from that in healthy controls(P0.001),Copy number loss of Variation_91720 was found to be a risk factor to ESCC(P0.001，OR5.617，95%CI2.750~11.470),whereas copy number gain of Variation_91720 was a protective factor(P=0.028,OR=0.419，95%CI=0.1930.911). Additionally, 34 ESCC patients’ PIK3CA mRNA expression was statistically higher in tumor tissues than adjacent tissues (P=0.038), but PIK3CA mRNA expression and Variation_91720 copy number showed they were no significant difference (P=0.066). Conclusion Copy number loss of Variation_91720 in PIK3CA may increase the susceptibility to ESCC, whereas copy number gain of Variation_91720 may decrease it. Variation_91720 may be a biomarker for the screening of high-risk population and early diagnosis of ESCC. [Key words] esophageal squamous cell carcinoma; copy number variation; Variation_91720; susceptibility Supported by the General Program of National Natural Science Foundation of China (81172