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

Wang, Mengyun; He, Jing; Zhu, Mei Ling; Teng, Xiao; Li, Qiao Xin; Sun, Meng; Wang, Xiao Feng; Yang, Ya; Wang, Jiu Cun; Li, Jin; Wang, Ya Nong; Wei, Qing

doi:10.1038/srep20008

Cited by 22 publications

(24 citation statements)

References 33 publications

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“… 4 – 7 However, most individuals exposed to these environmental risk factors actually never develop gastric cancer in their lifetime, suggesting the indispensible role of genetic factors in gastric carcinogenesis. 8 – 12 …”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in the <em>XPC</em> gene and gastric cancer susceptibility in a Southern Chinese population

Hua¹,

Zhuo²,

Shen³

et al. 2016

OTT

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Previous studies have reported that XPC gene polymorphisms may modify the individual susceptibility to gastric cancer. In this case–control study with a total of 1,142 cases and 1,173 controls, four potentially functional polymorphisms were genotyped in the XPC gene (rs2228001 A>C, rs2228000 C>T, rs2607775 C>G, and rs1870134 G>C) by Taqman assays and their associations were analyzed with the risk of gastric cancer in a Southern Chinese population. No significant association between any of XPC polymorphisms and gastric cancer risk was detected except for a borderline association with the rs2228000 CT/TT genotype (crude odds ratio =0.86, 95% confidence interval =0.73–1.02, P=0.088) when compared to the rs2228000 CC genotype. Further stratified analysis revealed that the protective effect of rs2228000 CT/TT on the risk of gastric cancer was only significant among subjects older than 58 years. In summary, results indicated that genetic variations in XPC gene may play a weak effect on gastric cancer susceptibility in Southern Chinese population, which warrants further confirmation in larger prospective studies with different ethnic populations.

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Section: Introductionmentioning

confidence: 99%

Polymorphisms in the <em>XPC</em> gene and gastric cancer susceptibility in a Southern Chinese population

Hua¹,

Zhuo²,

Shen³

et al. 2016

OTT

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“… 25 2016 China Asian Gastric cancer HB TaqMan assay 493 480 126 1099 545 487 112 1144 0.577 0.833 Zhu, J. H. 26 2016 China Asian ESCC HB TaqMan assay 555 448 114 1117 521 460 115 1096 0.098 0.371 AKT1 rs2494752 AA AG GG Total AA AG GG Total Tang, Q. S. 27 2014 China Asian Breast cancer HB TaqMan assay 300 511 159 970 331 464 139 934 0.017 0.253 Wang, M. Y. 25 2016 China Asian Gastric cancer HB TaqMan assay 547 454 99 1100 623 430 91 1144 0.730 0.167 Zhu, J. H. 26 2016 China Asian ESCC HB TaqMan assay 611 …”

Section: Resultsmentioning

confidence: 99%

Associations of genetic polymorphisms in pTEN/AKT/mTOR signaling pathway genes with cancer risk: A meta-analysis in Asian population

Zhang

Chen

Zhang

et al. 2017

Sci Rep

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The pTEN/AKT/mTOR signaling pathways play a critical role in balancing cell proliferation, differentiation, and survival. Recent studies researched the associations of core genes in the pTEN/AKT/mTOR pathway polymorphisms with the cancer susceptibility; however, the results are inconclusive. Therefore, a systematically meta-analysis was performed to evaluate the association between the five SNPs (mTOR rs2295080 and rs2536, AKT1 rs2494750 and rs2494752, pTEN rs701848) and cancer risk by systematic review of the literature in 31 eligible studies. The results showed a significant decreased risk between rs2295080 TG, GG genotype, and GG/TG genotypes and overall cancer [TG vs.TT: OR(95% CI) = 0.82(0.76, 0.89), GG/TG vs. TT: OR(95% CI) = 0.82(0.76, 0.88), and GG vs. TG/TT: OR(95% CI) = 0.67(0.51, 0.88)] and the subgroup of urinary system cancer and digestive system cancer. Moreover, the SNP rs701848 CC, TC genotype showed significantly increased the overall cancer risk both in dominant model [CC/TC vs. TT: OR(95% CI) = 1.25(1.15, 1.36)] and recessive model [CC vs. TC/TT: OR(95% CI) = 1.20(1.09, 1.32)], and digestive system cancer and urinary system cancer. In addition, AG genotype and GG/AG genotype of rs2494752 was associated with increased risk of cancer. Therefore, this meta-analysis provided genetic risk factors for carcinogenesis and the most valid cancer prevalence estimate for Asian population.

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“…Patients’ peripheral blood and surgical samples were obtained from tissue bank of Fudan University Shanghai Cancer Center (FUSCC). These blood samples were collected in ethylenediaminetetraacetic acid (EDTA) tubes and stored at −80°C until use . In this cohort, there were 144 patients who also had formalin‐fixed paraffin‐embedded (FFPE) gastric cancer tissues as well as the adjacent normal tissues available for further analysis.…”

Section: Methodsmentioning

confidence: 99%

“…These blood samples were collected in ethylenediaminetetraacetic acid (EDTA) tubes and stored at −80 C until use. 24,25 In this cohort, there were 144 patients who also had formalin-fixed paraffin-embedded (FFPE) gastric cancer tissues as well as the adjacent normal tissues available for further analysis. All patients had signed an informed consent for donating their blood samples or tissues (if available) to tissue bank of FUSCC for the purpose of scientific research.…”

Section: Study Populationmentioning

confidence: 99%

Functional variant of MTOR rs2536 and survival of Chinese gastric cancer patients

Cheng

Qiu

Zhang

et al. 2018

Intl Journal of Cancer

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We previously reported that some single nucleotide polymorphisms (SNPs) of candidate genes involved in the MTOR complex1 (MTORC1) were associated with risk of gastric cancer (GCa). In the present study, we further evaluated associations of eight potentially functional SNPs of MTOR, MLST8 and RPTOR with survival of 1002 GCa patients and also investigated molecular mechanisms underlying such associations. Specifically, we found that the MTOR rs2536 C allele at the microRNA binding site was independently associated with a 26% reduction of death risk (HR = 0.74, 95% CI = 0.57-0.96, p = 0.022). The results remained noteworthy with a prior false positive probability of 0.1. Genotype-phenotype correlation analysis in 144 patients' adjacent normal gastric tissue samples revealed that the MTOR expression levels were lower in rs2536 TC/CC carriers than that in wild-type TT carriers (p = 0.043). Dual luciferase assays revealed that the rs2536 C allele had a higher binding affinity to microRNA-150, leading to a decreased transcriptional activity of MTOR, compared to the rs2536 T allele. Further functional analysis revealed that MTOR knockdown by small interference RNA impaired proliferation, migration, and invasion ability in GCa cell lines. In conclusion, The MTOR rs2536 T > C change may be a biomarker for survival of Chinese GCa patients, likely by modulating microRNA-induced gene expression silencing. Additional studies are needed to validate our findings.

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

Cited by 22 publications

References 33 publications

Polymorphisms in the <em>XPC</em> gene and gastric cancer susceptibility in a Southern Chinese population

Polymorphisms in the <em>XPC</em> gene and gastric cancer susceptibility in a Southern Chinese population

Associations of genetic polymorphisms in pTEN/AKT/mTOR signaling pathway genes with cancer risk: A meta-analysis in Asian population

Functional variant of MTOR rs2536 and survival of Chinese gastric cancer patients

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