Assessment of <i>ADCY9</i> polymorphisms and colorectal cancer risk in the Chinese Han population

Li, Haiyue; Liu, Yuanwei; Liu, Jianfeng; Sun, Yao; Wu, Jia‐Min; Xiong, Zichao; Zhang, Yi; Li, Bin; Jin, Tianbo

doi:10.1002/jgm.3298

Cited by 8 publications

(9 citation statements)

References 25 publications

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“…There was no significant association between the ADCY9 rs1967309 genotype and cardiovascular benefit or harm for the cholesteryl ester transfer protein inhibitor evacetrapib (Nissen et al, 2018). The expression of ADCY9 was downregulated in intracranial aneurysms (Lai and Du, 2019;Li et al, 2020). In comparison to the healthy controls, granulomatosis with polyangiitis patients had lower ADCY9 mRNA levels (Dekkema et al, 2019).…”

Section: Discussionmentioning

confidence: 92%

“…Some studies focused on the association between ADCY9 and the risk of cardiovascular disease. Wu Y. et al reported that deletion of ADCY9 is the causation for the cardiac abnormalities (Li et al, 2020). SNP rs2238432 in the ADCY9 gene was linked with decreased stroke risk (Flanagan et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

“…Some studies have focused on the relationship between ADCY9 and the incidence and prognosis of cancer. One study discovered the association of ADCY9 variants with glioma risk and prognosis (Zhang et al, 2020) and the other two studies suggested ADCY9 gene polymorphisms were associated with Hepatocellular Carcinoma (Chao et al, 2020) and colorectal cancer (Li et al, 2020) risk in the Chinese Han population. Several studies reported the relationship between ADCY9 expression and disease risk and prognosis.…”

Section: Discussionmentioning

confidence: 99%

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Transcriptome Based Estrogen Related Genes Biomarkers for Diagnosis and Prognosis in Non-small Cell Lung Cancer

Jia

Xie

et al. 2021

Front. Genet.

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BackgroundLung cancer is the tumor with the highest morbidity and mortality, and has become a global public health problem. The incidence of lung cancer in men has declined in some countries and regions, while the incidence of lung cancer in women has been slowly increasing. Therefore, the aim is to explore whether estrogen-related genes are associated with the incidence and prognosis of lung cancer.MethodsWe obtained all estrogen receptor genes and estrogen signaling pathway genes in The Cancer Genome Atlas (TCGA), and then compared the expression of each gene in tumor tissues and adjacent normal tissues for lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC) separately. Survival analysis was performed of the differentially expressed genes in LUAD and LUSC patients separately. The diagnostic and prognostic values of the candidate genes were validated in the Gene Expression Omnibus (GEO) datasets.ResultsWe found 5 estrogen receptor genes and 66 estrogen pathway genes in TCGA. A total of 50 genes were differently expressed between tumor tissues and adjacent normal tissues and 6 of the 50 genes were related to the prognosis of LUAD in TCGA. 56 genes were differently expressed between tumor tissues and adjacent normal tissues and none of the 56 genes was related to the prognosis of LUSC in TCGA. GEO datasets validated that the 6 genes (SHC1, FKBP4, NRAS, PRKCD, KRAS, ADCY9) had different expression between tumor tissues and adjacent normal tissues in LUAD, and 3 genes (FKBP4, KRAS, ADCY9) were related to the prognosis of LUAD.ConclusionsThe expressions of FKBP4 and ADCY9 are related to the pathogenesis and prognosis of LUAD. FKBP4 and ADCY9 may serve as biomarkers in LUAD screening and prognosis prediction in clinical settings.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Transcriptome Based Estrogen Related Genes Biomarkers for Diagnosis and Prognosis in Non-small Cell Lung Cancer

Jia

Xie

et al. 2021

Front. Genet.

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“…16 In addition, Li et al found that the ADCY9 polymorphism, rs2230742, was related to an increased risk of CRC in the Chinese Han population. 17 Moreover, the rs12674822 variant of ANGPT2 was reported to be associated with CRC risk in Chinese subjects. 18 SNPs in MMP2 have previously been found to be associated with CRC risk.…”

Section: Discussionmentioning

confidence: 99%

MMP2 Polymorphisms and Colorectal Cancer Susceptibility in a Chinese Han Population

Liu¹,

Yang²,

Li³

et al. 2022

IJGM

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Colorectal cancer (CRC) is among the most common cancers worldwide and an important cause of cancer-related death. Inherited genetic variation plays a vital role in the occurrence and development of CRC. The aim of this study was to evaluate the association of single nucleotide polymorphisms (SNPs) in MMP2 with CRC risk. Patients and Methods: Three candidates, MMP2 SNPs, rs1053605, rs243849, and rs14070, were selected and genotyped using the Agena MassARRAY RS1000 system, and their association with risk of CRC was evaluated in 663 CRC cases and 663 healthy controls by calculating odds ratio (OR) with 95% confidence interval (95% CI) values. Results:The minor allele of rs243849 (T) was significantly less frequent in cases than controls (p = 0.021), and this SNP was associated with a decreased risk of CRC under co-dominant (p = 0.033), dominant (p = 0.021), and log-additive (p = 0.017) models, after adjusting for confounding factors. After stratification, rs243849 was found to be protective against CRC in patients who were non-smoking, consumed alcohol, and were ≥60 years old (p < 0.05). Conversely, rs1053605 was associated with disease occurrence in patients with CRC who consumed alcohol and were <60 years old (p < 0.05). Furthermore, rs1053605 genotype was associated with an increased risk of colon cancer (p < 0.05), while that of rs243849 was associated with a decreased risk of rectal cancer (p < 0.05). The rs1053605-rs243849 CT haplotype exhibited a protective role in CRC risk, following adjustment for confounders (p = 0.014). The rs14070 SNP was not associated with CRC risk. Finally, the false discovery rate (FDR) method was used to validate the study results. Conclusion: Overall, the MMP2 gene polymorphisms, rs243849 and rs1053605, may be useful for predicting CRC progression.

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“…Some of the signature genes are reported to be involved in tumor development. For example, ADCY9 encodes the protein adenyl cyclase type 9, which is related to the activation of intracellular production of cyclic AMP ( 40 ). ADCY9 has been reported to involve in the development of tumors.…”

Section: Discussionmentioning

confidence: 99%

Transcriptome Analyses Identify a Metabolic Gene Signature Indicative of Antitumor Immunosuppression of EGFR Wild Type Lung Cancers With Low PD-L1 Expression

et al. 2021

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PurposeWith the development and application of targeted therapies like tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibitors (ICIs), non-small cell lung cancer (NSCLC) patients have achieved remarkable survival benefits in recent years. However, epidermal growth factor receptor (EGFR) wild-type and low expression of programmed death-ligand 1 (PD-L1) NSCLCs remain unmanageable. Few treatments for these patients exist, and more side effects with combination therapies have been observed. We intended to generate a metabolic gene signature that could successfully identify high-risk patients and reveal its underlying molecular immunology characteristics.MethodsBy identifying the bottom 50% PD-L1 expression level as PD-L1 low expression and removing EGFR mutant samples, a total of 640 lung adenocarcinoma (LUAD) and lung squamous carcinoma (LUSC) tumor samples and 93 adjacent non-tumor samples were finally extracted from The Cancer Genome Atlas (TCGA). We identified differentially expressed metabolic genes (DEMGs) by R package limma and the prognostic genes by Univariate Cox proportional hazards regression analyses. The intersect genes between DEMGs and prognostic genes were put into the least absolute shrinkage and selection operator (LASSO) penalty Cox regression analysis. The metabolic gene signature contained 18 metabolic genes generated and successfully stratified LUAD and LUSC patients into the high-risk and low-risk groups, which was also validated by the Gene Expression Omnibus (GEO) database. Its accuracy was proved by the time-dependent Receiver Operating Characteristic (ROC) curve, Principal Components Analysis (PCA), and nomogram. Furthermore, the Single-sample Gene Set Enrichment Analysis (ssGSEA) and diverse acknowledged methods include XCELL, TIMER, QUANTISEQ, MCPcounter, EPIC, CIBERSORT-ABS, and CIBERSORT revealed its underlying antitumor immunosuppressive status. Besides, its relationship with somatic copy number alterations (SCNAs) and tumor mutational burden (TMB) was also discussed.ResultsIt is noteworthy that metabolism reprogramming is associated with the survival of the double-negative LUAD and LUSC patients. The SCNAs and TMB of critical metabolic genes can inhibit the antitumor immune process, which might be a promising therapeutic target.

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Assessment of ADCY9 polymorphisms and colorectal cancer risk in the Chinese Han population

Cited by 8 publications

References 25 publications

Transcriptome Based Estrogen Related Genes Biomarkers for Diagnosis and Prognosis in Non-small Cell Lung Cancer

Transcriptome Based Estrogen Related Genes Biomarkers for Diagnosis and Prognosis in Non-small Cell Lung Cancer

MMP2 Polymorphisms and Colorectal Cancer Susceptibility in a Chinese Han Population

Transcriptome Analyses Identify a Metabolic Gene Signature Indicative of Antitumor Immunosuppression of EGFR Wild Type Lung Cancers With Low PD-L1 Expression

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