Associations of PI3KR1 and mTOR polymorphisms with esophageal squamous cell carcinoma risk and gene-environment interactions in Eastern Chinese populations.

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Zhu, Jinhong
Wang, Mengyun
Zhu, Meiling
He, Jin
Wang, Jiu-Cun
Jin, Li
Wang, Xiao-Feng
Xiang, Jia-Qing
Wei, Qingyi

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Single nucleotide polymorphisms (SNPs) in the PI3K/PTEN/AKT/mTOR signaling pathway may contribute to carcinogenesis. We genotyped five potentially functional PIK3R1 and mTOR SNPs in 1116 esophageal squamous cell cancer (ESCC) patients and 1117 cancer-free controls to assess their associations with ESCC risk. We observed no association with ESCC risk for any of the selected SNPs. However, the combined analysis of these SNPs revealed that subjects with one-to-three risk genotypes had an increased ESCC risk. Stratified analysis by body mass index (BMI) found that ESCC risk was significantly associated with each of three mTOR SNPs among subjects with BMI < 25.0. Specifically, we found that subjects carrying ≥ 1 risk genotypes had significantly increased ESCC risk, particularly for males, ever-smokers, ever-drinkers, and those with age > 60, or BMI < 25.0. Moreover, three mTOR haplotypes were associated with an increase in ESCC risk. Our meta-analysis of mTOR rs2295080 and cancer risk provided further evidence that mTOR SNPs might modulate cancer susceptibility. In this population, such risk effects might be modified by other risk factors, highlighting the importance of gene-environment interaction in esophageal carcinogenesis. Additional, larger studies are warranted to validate our findings.


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Humans, Carcinoma, Squamous Cell, Esophageal Neoplasms, Genetic Predisposition to Disease, Odds Ratio, Risk, Case-Control Studies, Epistasis, Genetic, Haplotypes, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Asian Continental Ancestry Group, China, Female, Male, Meta-Analysis as Topic, Genetic Association Studies, Class Ia Phosphatidylinositol 3-Kinase, TOR Serine-Threonine Kinases, Gene-Environment Interaction


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Zhu, Jinhong, Mengyun Wang, Meiling Zhu, Jin He, Jiu-Cun Wang, Li Jin, Xiao-Feng Wang, Jia-Qing Xiang, et al. (2015). Associations of PI3KR1 and mTOR polymorphisms with esophageal squamous cell carcinoma risk and gene-environment interactions in Eastern Chinese populations. Scientific reports, 5(1). p. 8250. 10.1038/srep08250 Retrieved from

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