a functional variant in the mtor promoter modulates its expression and is associated with renal cell cancer riskmtor启动子的功能变体调节其表达和与肾细胞癌的风险.pdfVIP
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a functional variant in the mtor promoter modulates its expression and is associated with renal cell cancer riskmtor启动子的功能变体调节其表达和与肾细胞癌的风险
A Functional Variant in the MTOR Promoter Modulates
Its Expression and Is Associated with Renal Cell Cancer
Risk
1. 1. 1. 1 1 1 2
Qiang Cao , Xiaobing Ju , Pu Li , Xiaoxin Meng , Pengfei Shao , Hongzhou Cai , Meilin Wang ,
2 1 1
Zhengdong Zhang , Chao Qin *, Changjun Yin *
1 State Key Laboratory of Reproductive Medicine, Department of Urology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China, 2 Department of
Molecular and Genetic Toxicology, School of Public Health, Nanjing Medical University, Nanjing, China
Abstract
Background: The mTOR signaling pathway plays a crucial role in the carcinogenesis of renal cell cancer (RCC). We sought to
investigate the influence of genetic variations in the mTOR pathway-related genes on the risk of RCC.
Methods: We genotyped 8 potentially functional polymorphisms in AKT1, AKT2, PTEN and MTOR genes using the TaqMan
method in a case-control study of 710 RCC patients and 760 cancer-free subjects. Unconditional logistic regression, adjusted
for potential confounding factors, was used to assess the risk associations. We then examined the functionality of the
important polymorphisms.
Results: Of the 8 polymorphisms, after adjusting for multiple comparisons, we found a significant association between one
variant (rs2295080) in the promoter of MTOR and reduced RCC risk (P = 0.005, OR = 0.74, 95%CI = 0.59–0.91, TG/GG vs. TT).
Another variant (rs701848) in the 39UTR region of PTEN was associated with increased RCC risk (P = 0.014, OR = 1.45,
95%CI = 1.08–1.96, CC vs. TT); however, the association was not significant after adjusting for multiple com
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