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

dc.contributor.author

Zhu, Jinhong

dc.contributor.author

Wang, Mengyun

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Zhu, Meiling

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He, Jin

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Wang, Jiu-Cun

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Jin, Li

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Wang, Xiao-Feng

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Xiang, Jia-Qing

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Wei, Qingyi

dc.date.accessioned

2019-02-01T15:30:09Z

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2019-02-01T15:30:09Z

dc.date.issued

2015-01

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2019-02-01T15:30:07Z

dc.description.abstract

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.

dc.identifier

srep08250

dc.identifier.issn

2045-2322

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2045-2322

dc.identifier.uri

https://hdl.handle.net/10161/18032

dc.language

eng

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Springer Science and Business Media LLC

dc.relation.ispartof

Scientific reports

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10.1038/srep08250

dc.subject

Humans

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Carcinoma, Squamous Cell

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Esophageal Neoplasms

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Genetic Predisposition to Disease

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Odds Ratio

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Risk

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Case-Control Studies

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Epistasis, Genetic

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Haplotypes

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Polymorphism, Genetic

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Polymorphism, Single Nucleotide

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Adult

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Aged

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Aged, 80 and over

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Middle Aged

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Asian Continental Ancestry Group

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China

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Female

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Male

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Meta-Analysis as Topic

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Genetic Association Studies

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Class Ia Phosphatidylinositol 3-Kinase

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TOR Serine-Threonine Kinases

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Gene-Environment Interaction

dc.title

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

dc.type

Journal article

duke.contributor.orcid

Wei, Qingyi|0000-0002-3845-9445|0000-0003-4115-4439

pubs.begin-page

8250

pubs.issue

1

pubs.organisational-group

School of Medicine

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Duke

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Duke Cancer Institute

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Institutes and Centers

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Population Health Sciences

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Basic Science Departments

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Medicine, Medical Oncology

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Medicine

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Clinical Science Departments

pubs.publication-status

Published

pubs.volume

5

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