A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population.

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URL https://hdl.handle.net/10161/18025
Autoren Wang, Meng-Yun ; He, Jing ; Zhu, Mei-Ling ; Teng, Xiao-Yan ; Li, Qiao-Xin ; Sun, Meng-Hong ; Wang, Xiao-Feng ; Yang, Ya-Jun ; Wang, Jiu-Cun ; Jin, Li ; Wang, Ya-Nong ; Wei, Qing-Yi
Beschreibung 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.
Verlag Springer Science and Business Media LLC
Erscheinungsjahr 2019
Zugang Unbekannt
Dokumentart Journal article
Sprache eng
Schlagworte Humans ; Adenocarcinoma ; 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 ; 80 and over ; Middle Aged ; Asian Continental Ancestry Group ; China ; Female ; Male ; Proto-Oncogene Proteins c-akt ; Promoter Regions ; Young Adult ; Genetic Association Studies
Beziehungen Scientific reports ; 10.1038/srep20008 ; srep20008 ; 2045-2322 ; https://hdl.handle.net/10161/18025
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