The association study between CYP24A1 gene polymorphisms and risk of liver, lung and gastric cancer in a Chinese population

Xiong, Qiantao; Jiao, Yuwei; Yang, Puyu; Liao, Yixiang; Gu, Xiaoqing; Hu, Fuyan; Chen, Bifeng

doi:10.1016/j.prp.2020.153237

Cited by 9 publications

(10 citation statements)

References 25 publications

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“…The pathogenesis of NSCLC is complex, since numerous risk factors have been identified, such as smoking, exposure to radon, air pollution, history of previous lung disease, somatic mutations, and low serum levels of vitamin D [ 5 , 7 ]. Recent research indicates that polymorphisms involved in the metabolic pathway of vitamin D are related both to survival of the disease [ 12 , 17 , 40 , 41 , 42 , 43 ] and to its pathogenesis [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 ]. It is therefore important to explore the impact of these associations in different populations.…”

Section: Discussionmentioning

confidence: 99%

“…Single nucleotide polymorphisms (SNPs) in these genes can alter both the functionality of the synthesized enzymes and the expression of each gene, and may therefore play an essential role in the onset, progression, and prognosis of NSCLC [ 12 , 17 ]. The influence of SNPs in these genes on the risk of developing lung cancer has been evaluated before, mainly in Asian populations [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 ]. However, there are few studies, and this highlights the need to carry out more research to assess the influence of these polymorphisms on the risk of suffering from NSCLC in various populations.…”

Section: Introductionmentioning

confidence: 99%

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Effect of Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway on Susceptibility to Non-Small-Cell Lung Cancer

et al. 2022

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The pathogenesis of non-small-cell lung cancer (NSCLC) is complex, since many risk factors have been identified. Recent research indicates that polymorphisms in the metabolic pathway of vitamin D may be involved in both risk and survival of the disease. The objective of this study is to assess the effect of 13 genetic polymorphisms involved in the vitamin D metabolic pathway on the risk of suffering from NSCLC. We conducted an observational case-control study, which included 204 patients with NSCLC and 408 controls, of Caucasian origin, from southern Spain. The CYP27B1 (rs4646536, rs3782130, rs703842, rs10877012), CYP2R1 (rs10741657), GC (rs7041), CYP24A1, and VDR (BsmI, Cdx-2, FokI, ApaI, TaqI) gene polymorphisms were analyzed by real-time polymerase chain reaction. The logistic regression model, adjusted for smoking and family history of cancer, revealed that in the genotypic model, carriers of the VDR BsmI rs1544410-AA genotype were associated with a lower risk of developing NSCLC compared to the GG genotype (p = 0.0377; OR = 0.51; CI95% = 0.27–0.95; AA vs. GG). This association was maintained in the recessive model (p = 0.0140). Haplotype analysis revealed that the AACATGG and GACATGG haplotypes for the rs1544410, rs7975232, rs731236, rs4646536, rs703842, rs3782130, and rs10877012 polymorphisms were associated with a lower risk of NSCLC (p = 0.015 and p = 0.044 respectively). The remaining polymorphisms showed no effect on susceptibility to NSCLC. The BsmI rs1544410 polymorphism was significantly associated with lower risk of NSCLC and could be of considerable value as a predictive biomarker of the disease.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Effect of Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway on Susceptibility to Non-Small-Cell Lung Cancer

et al. 2022

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“…CAV1 is downregulated in lung cancer and thus acts as a tumor suppressor gene ( Bélanger et al, 2004 ; Zhan et al, 2012 ). CYP24A1 overexpression is associated with accelerated cell growth and invasion ( Shiratsuchi et al, 2017 ) and worse survival in LUAD ( Chen et al, 2011 ), and its polymorphisms are associated with susceptibility to lung cancer ( Qu et al, 2019 ; Xiong et al, 2020 ). The levels of S100P mRNA and protein expression are higher in lung cancer, and upregulated S100P increases cancer cell migration and metastasis ( Hsu et al, 2015 ).…”

Section: Discussionmentioning

confidence: 99%

Construction of a redox-related gene signature for overall survival prediction and immune infiltration in non-small-cell lung cancer

Miao

Yang

Gao

et al. 2022

Front. Mol. Biosci.

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Background: An imbalance in the redox homeostasis has been reported in multiple cancers and is associated with a poor prognosis of disease. However, the prognostic value of redox-related genes in non-small-cell lung cancer (NSCLC) remains unclear.Methods: RNA sequencing data, DNA methylation data, mutation, and clinical data of NSCLC patients were downloaded from The Cancer Genome Atlas and Gene Expression Omnibus databases. Redox-related differentially expressed genes (DEGs) were used to construct the prognostic signature using least absolute shrinkage and selection operator (LASSO) regression analysis. Kaplan–Meier survival curve and receiver operator characteristic (ROC) curve analyses were applied to validate the accuracy of the gene signature. Nomogram and calibration plots of the nomogram were constructed to predict prognosis. Pathway analysis was performed using gene set enrichment analysis. The correlations of risk score with tumor stage, immune infiltration, DNA methylation, tumor mutation burden (TMB), and chemotherapy sensitivity were evaluated. The prognostic signature was validated using GSE31210, GSE26939, and GSE68465 datasets. Real-time polymerase chain reaction (PCR) was used to validate dysregulated genes in NSCLC.Results: A prognostic signature was constructed using the LASSO regression analysis and was represented as a risk score. The high-risk group was significantly correlated with worse overall survival (OS) (p < 0.001). The area under the ROC curve (AUC) at the 5-year stage was 0.657. The risk score was precisely correlated with the tumor stage and was an independent prognostic factor for NSCLC. The constructed nomogram accurately predicted the OS of patients after 1-, 3-, and 5-year periods. DNA replication, cell cycle, and ECM receptor interaction were the main pathways enriched in the high-risk group. In addition, the high-risk score was correlated with higher TMB, lower methylation levels, increased infiltrating macrophages, activated memory CD4+ T cells, and a higher sensitivity to chemotherapy. The signature was validated in GSE31210, GSE26939, and GSE68465 datasets. Real-time PCR validated dysregulated mRNA expression levels in NSCLC.Conclusions: A prognostic redox-related gene signature was successfully established in NSCLC, with potential applications in the clinical setting.

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“…One Study have shown that SLCO1B1 variation can be used as a biomarker of breast cancer response to simvastatin [ 23 ]. The gene polymorphisms of CYP24A1 and CYP17A1 have been closely correlated with the risk of liver, lung, stomach, and prostate cancers in a Chinese population [ 24 , 25 ]. Another study has shown that the expression of ABCC8 mRNA can be used as an independent prognostic index in patients with glioma and can predict the sensitivity of gliomas to temozolomide [ 26 ].…”

Section: Discussionmentioning

confidence: 99%

Establishment of non-small-cell lung cancer risk prediction model based on prognosis-associated ADME genes

et al. 2021

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Purpose: ADME genes are those involved in the absorption, distribution, metabolism, and excretion (ADME) of drugs. In this study, a non–small-cell lung cancer (NSCLC) risk prediction model was established using prognosis-associated ADME genes, and the predictive performance of this model was evaluated and verified. In addition, multifaceted difference analysis was performed on groups with high and low risk scores. Methods: An NSCLC sample transcriptome and clinical data were obtained from public databases. The prognosis-associated ADME genes were obtained by univariate Cox and lasso regression analyses to build a risk model. Tumor samples were divided into high-risk and low-risk score groups according to the risk score. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses of the differentially expressed genes and the differences in the immune infiltration, mutation, and medication reactions in the two groups were studied in detail. Results: A risk prediction model was established with seven prognosis-associated ADME genes. Its good predictive ability was confirmed by studies of the model’s effectiveness. Univariate and multivariate Cox regression analyses showed that the model’s risk score was an independent prognostic factor for patients with NSCLC. The study also showed that the risk score closely correlated with immune infiltration, mutations, and medication reactions. Conclusion: The risk prediction model established with seven ADME genes in this study can predict the prognosis of patients with NSCLC. In addition, significant differences in immune infiltration, mutations, and therapeutic efficacy exist between the high- and low-risk score groups.

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The association study between CYP24A1 gene polymorphisms and risk of liver, lung and gastric cancer in a Chinese population

Cited by 9 publications

References 25 publications

Effect of Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway on Susceptibility to Non-Small-Cell Lung Cancer

Effect of Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway on Susceptibility to Non-Small-Cell Lung Cancer

Construction of a redox-related gene signature for overall survival prediction and immune infiltration in non-small-cell lung cancer

Establishment of non-small-cell lung cancer risk prediction model based on prognosis-associated ADME genes

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