A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population.
Abstract
AKT is an important signal transduction protein that plays a crucial role in cancer
development. Therefore, we evaluated associations between single nucleotide polymorphisms
(SNPs) in the AKT promoter region and gastric cancer (GCa) risk in a case-control
study of 1,110 GCa patients and 1,114 matched cancer-free controls. We genotyped five
SNPs (AKT1 rs2494750G >C, AKT1 rs2494752A >G, AKT1 rs10138227C >T, AKT2 rs7254617G>A
and AKT2 rs2304186G >T) located in the 5' upstream regulatory, first intron or promoter
regions. In the logistic regression analysis, a significantly elevated GCa risk was
associated with the rs2494752 AG/GG variant genotypes (adjusted odds ratio [OR] = 1.20,
95% confidence interval [CI] = 1.02-1.42) under a dominant genetic model, and this
risk was more evident in subgroups of ever drinkers. The luciferase reporter assay
showed that the rs2494752 G allele significantly increased luciferase activity. Our
results suggest that the potentially functional AKT1 rs2494752 SNP may affect GCa
susceptibility, likely by modulating the AKT1 promoter transcriptional activity. Larger,
independent studies are warranted to validate our findings.
Type
Journal articleSubject
HumansAdenocarcinoma
Stomach Neoplasms
Genetic Predisposition to Disease
Neoplasm Staging
Risk Factors
Case-Control Studies
Transcription, Genetic
Gene Expression Regulation, Neoplastic
Genotype
Linkage Disequilibrium
Polymorphism, Single Nucleotide
Alleles
Adult
Aged
Aged, 80 and over
Middle Aged
Asian Continental Ancestry Group
China
Female
Male
Proto-Oncogene Proteins c-akt
Promoter Regions, Genetic
Young Adult
Genetic Association Studies
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https://hdl.handle.net/10161/18025Published Version (Please cite this version)
10.1038/srep20008Publication Info
Wang, Meng-Yun; He, Jing; Zhu, Mei-Ling; Teng, Xiao-Yan; Li, Qiao-Xin; Sun, Meng-Hong;
... Wei, Qing-Yi (2016). A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma
Risk in an Eastern Chinese Population. Scientific reports, 6(1). pp. 20008. 10.1038/srep20008. Retrieved from https://hdl.handle.net/10161/18025.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Qingyi Wei
Professor in Population Health Sciences
Qingyi Wei, MD, PhD, Professor in the Department of Medicine, is Associate Director
for Cancer Control and Population Sciences, Co-leader of CCPS and Co-leader of Epidemiology
and Population Genomics (Focus Area 1). He is a professor of Medicine and an internationally
recognized epidemiologist focused on the molecular and genetic epidemiology of head
and neck cancers, lung cancer, and melanoma. His research focuses on biomarkers and
genetic determinants for the DNA repair deficient phenotype and

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