Associations of PI3KR1 and mTOR Polymorphisms with Esophageal Squamous Cell Carcinoma Risk and Gene-Environment Interactions in Eastern Chinese Populations

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

doi:10.1038/srep08250

Cited by 43 publications

(56 citation statements)

References 39 publications

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“…Two studies have assessed associations between functional SNPs in mTOR gene and risk of ESCC in Chinese populations. They genotyped several mTOR SNPs in ESCC patients and found a significantly altered risk of ESCC associated with mTOR rs1883965 and mTOR rs2295080 [35–36]. An early study identified seven SNPs of PI3K/PTEN/AKT/mTOR pathway in patients with advanced ESCC treated with 5-Fu, cisplatin or paclitaxel, and explored the association between clinical outcome and genetic variations.…”

Section: Discussionmentioning

confidence: 99%

Study of single nucleotide polymorphisms of FBW7 and its substrate genes revealed a predictive factor for paclitaxel plus cisplatin chemotherapy in Chinese patients with advanced esophageal squamous cell carcinoma

Liu

Chen

et al. 2016

Oncotarget

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Paclitaxel plays a major role in the treatment of advanced esophageal squamous cell carcinoma. However, there is no biomarker that could be used to predict the clinical response of paclitaxel. This work was conducted to investigate the association of genetic polymorphisms in FBW7 and its substrate genes and the clinical response of paclitaxel. Patients with advanced esophageal squamous cell carcinoma were treated with paclitaxel 175 mg/m2 over 3 hours day 1 and cisplatin 75 mg/m2 day 1, every 3 weeks. The genotypes of 11 FBW7 and its substrate gene polymorphisms were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis revealed that patients with mTOR rs1057079 AG (ORadjusted: 4.59; 95% CI: 1.78-11.86) genotype had significant correlation with the clinical response of paclitaxel when compared with AA genotype after adjustment for sex, age, and chemotherapy cycle. The median progression-free survival (PFS) of patients with advanced ESCC who received paclitaxel plus cisplatin (TP) as first-line treatment is 14.3 months (95% CI: 9.0-19.60 months). The median PFS (mPFS) of AG genotypes and AA genotypes in mTOR rs1057079 were 17.31 months (95% CI: 15.9-18.67 months) and 9.8 months (95% CI: 8.58-11.02 months) (p=0.019), respectively.

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Section: Discussionmentioning

confidence: 99%

Study of single nucleotide polymorphisms of FBW7 and its substrate genes revealed a predictive factor for paclitaxel plus cisplatin chemotherapy in Chinese patients with advanced esophageal squamous cell carcinoma

Liu

Chen

et al. 2016

Oncotarget

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“…We carried out genotyping on the platform of the TaqMan real-time PCR method on a 7900 Sequence Detection System (Applied Biosystems, Foster City, CA). The technique details were described previously 40, 41, 42. Quality control was strictly executed; four duplicate positive controls and four negative controls (omitting DNA template) were loaded, along with samples in each of the 384-well plates.…”

Section: Methodsmentioning

confidence: 99%

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

Zhu

Jia

et al. 2018

Molecular Therapy - Nucleic Acids

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Nucleotide excision repair (NER) is an essential mechanism of the body to defend against exogenous carcinogen-induced DNA damage. Defects in NER may impair DNA repair capacity and, therefore, increase genome instability and cancer susceptibility. To explore genetic predispositions to Wilms tumor, we conducted a case-control study totaling 145 neuroblastoma cases and 531 healthy controls. We systematically selected 19 potentially functional SNPs in six key genes within the NER pathway (ERCC1, XPA, XPC, XPD, XPF, and XPG). The odds ratio (OR) and 95% confidence interval (CI) were calculated to measure the strength of associations. We identified significant associations between two XPD SNPs and Wilms tumor risk. The XPD rs3810366 polymorphism significantly enhanced Wilms tumor risk (dominant model: adjusted OR = 2.12, 95% CI = 1.26–3.57). Likewise, XPD rs238406 conferred a significantly increased risk for the disease (dominant model: adjusted OR = 2.30, 95% CI = 1.40–3.80; recessive model: adjusted OR = 1.64, 95% CI = 1.11–2.44). Moreover, online expression quantitative trait locus (eQTL) analysis demonstrated that these two polymorphisms significantly affected XPD gene expression in transformed fibroblast cells. Our study provides evidence of the association between the two XPD polymorphisms and Wilms tumor risk. However, these findings warrant validation in larger studies.

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“…Numerous epidemiologic investigations and researches have focused on the epidemiological etiology to explain the rapid increase of this lethal cancer 8 9 10 . Tobacco use, alcohol consumption and mutations of enzymes that metabolizing alcohol have been the primary causes of ESCC, however, alcohol consumption is not considered as a risk factor for EAC 11 12 13 .…”

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confidence: 99%

Teeth loss, teeth brushing and esophageal carcinoma: a systematic review and meta-analysis

Chen

Nie

Zhu

et al. 2015

Sci Rep

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Esophageal carcinoma (EC) is a serious malignancy, and its epidemiologic etiology is not fully explained. We performed this review to investigate the association between teeth loss and teeth brushing and the risk of EC. A systematic search was conducted to identify all relevant studies. The Q test and I2 statistic were used to examine between-study heterogeneity. Pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were considered by fixed or random effects models. Furthermore, we conducted subgroup analyses based on study design, the studies’ geographic regions and case type of origin. Modified Egger linear regression test was used to estimate publication bias. Ten articles were included. Pooled analyses indicated that teeth loss was associated with an increased risk of EC for Asians (OR, 1.52; 95% CI: 1.30, 1.78), and high frequency of teeth brushing was associated with a lower incidence of EC (OR, 0.62; 95%CI: 0.43, 0.89). Subgroup analyses showed consistent results and no publication bias existed. Teeth loss and teeth brushing play potential roles in the progressing of EC. People should take care of their oral health in daily life. And large well-designed researches are needed to fully describe the association between teeth health and EC risk.

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Associations of PI3KR1 and mTOR Polymorphisms with Esophageal Squamous Cell Carcinoma Risk and Gene-Environment Interactions in Eastern Chinese Populations

Cited by 43 publications

References 39 publications

Study of single nucleotide polymorphisms of FBW7 and its substrate genes revealed a predictive factor for paclitaxel plus cisplatin chemotherapy in Chinese patients with advanced esophageal squamous cell carcinoma

Study of single nucleotide polymorphisms of FBW7 and its substrate genes revealed a predictive factor for paclitaxel plus cisplatin chemotherapy in Chinese patients with advanced esophageal squamous cell carcinoma

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

Teeth loss, teeth brushing and esophageal carcinoma: a systematic review and meta-analysis

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