ATM rs189037 (G&gt;A) polymorphism and risk of lung cancer and head and neck cancer: A meta-analysis

Bhowmik, Aditi; Nath, Sayantan; Das, Sambuddha; Ghosh, Sankar Kumar; Choudhury, Yashmin

doi:10.1016/j.mgene.2015.08.002

Cited by 12 publications

(9 citation statements)

References 29 publications

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“…Several studies have shown that TP53 and ATM in the P38MAPK signaling pathway are associated with lung cancer risk, but these studies did not include many other candidate genes and SNPs of this pathway. In the present study, we were further motivated to comprehensively investigate this pathway, because associations between genetic variants in the P38MAPK pathway genes and lung cancer risk are collectively more significant than what would be expected by chance (see section 2).…”

Section: Introductionmentioning

confidence: 99%

Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer

Feng

Wang

Liu

et al. 2017

Molecular Carcinogenesis

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The P38MAPK pathway participates in regulating cell cycle, inflammation, development, cell death, cell differentiation, and tumorigenesis. Genetic variants of some genes in the P38MAPK pathway are reportedly associated with lung cancer risk. To substantiate this finding, we used six genome-wide association studies (GWASs) to comprehensively investigate associations of 14,904 single nucleotide polymorphisms (SNPs) in 108 genes of this pathway with lung cancer risk. We identified six significant lung cancer risk-associated SNPs in two genes (CSNK2B and ZAK) after correction for multiple comparisons by a false discovery rate (FDR) < 0.20. After removal of three CSNK2B SNPs that are located on the same locus previously reported GWAS, we performed LD analysis, SNP functional prediction and further analysis for two independent SNPs: rs3769201 and rs722864 in ZAK. We also expanded the analysis by including these two SNPs from additional GWAS datasets of Harvard University (984 cases and 970 controls) and deCODE (1,319 cases and 26,380 controls). The overall effects of these two SNPs were assessed using all eight GWAS datasets (OR=0.92, 95% CI=0.89–0.95, and P=1.03E-05 for rs3769201; OR=0.91, 95% CI=0.88–0.95, and P=2.03E-06 for rs722864). Finally, we performed an eQTL analysis and found that these two SNPs were significantly associated with ZAK mRNA expression levels in lymphoblastoid cell lines. In conclusion, the ZAK rs3769201 and rs722864 may be possible functional susceptibility loci for lung cancer risk.

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Section: Introductionmentioning

confidence: 99%

Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer

Feng

Wang

Liu

et al. 2017

Molecular Carcinogenesis

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“…Studies have shown that SNPs in regulatory and coding regions can modify disease, particularly cancer research studies 52 , 53 . SNPs can affect tumor size, anti-tumor drug sensitivity and patient prognosis.…”

Section: Discussionmentioning

confidence: 99%

The role of histone modification and a regulatory single-nucleotide polymorphism (rs2071166) in the Cx43 promoter in patients with TOF

Lin

et al. 2017

Sci Rep

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Abnormal level of Cx43 expression could result in CHD. Epigenetic modification and disease-associated, non-coding SNPs might influence gene transcription and expression. Our study aimed to determine the role of histone modification and an rSNP (rs2071166) in the Cx43 promoter in patients with TOF. Our results indicate that H3K18ac bind to Cx43 promoter and that their levels are reduced in TOF patients relative to controls. The relationship between the non-coding SNP in the Cx43 gene and TOF patients was evaluated in 158 patients and 300 controls. The C allele of rs2071166 was confirmed to result in an increased risk of TOF (OR = 1.586, 95%CI 1.149–2.189). Individuals with the CC genotype at rs2071166 also showed a significant susceptibility to TOF (OR = 2.961, 95%CI 1.452–6.038). The mRNA level in TOF who were CC genotype was lower than that in patients with the AA/AC genotype. Functional analysis in cells and transgenic zebrafish models showed that rs2071166 decreased the activity of the promoter and could block the interaction between RXRα and RARE. This is the first study to illustrate that epigenetic modification and an rSNP in the Cx43 promoter region play a critical role in TOF by impacting the transcriptional activity and expression level of Cx43.

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“…Polymorphisms in the ATM allele rs189037 (G>A) have also been shown to be predictive of lung cancer risk in a Han Chinese population, 23 and was associated with increased risk of lung adenocarcinoma in Chinese non-smoking females, 24 as well as increased risk of head and neck cancer. 25 …”

Section: Atm Gene and The Occurrence Of Lung Cancermentioning

confidence: 99%

The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research

Gao

et al. 2017

Ther Adv Respir Dis

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Lung cancer is the leading cause of death due to cancer worldwide. It is estimated that approximately 1.2 million new cases of lung cancer are diagnosed each year. Early detection and treatment are crucial for improvements in both prognosis and quality of life of lung cancer patients. The ataxia telangiectasia mutated (ATM) gene is a cancer-susceptibility gene that encodes a key apical kinase in the DNA damage response pathway. It has recently been shown to play an important role in the development of lung cancer. The main functions of the ATM gene and protein includes participation in cell cycle regulation, and identification and repair of DNA damage. ATM gene mutation can lead to multiple system dysfunctions as well as a concomitant increase in tumor tendency. In recent years, many studies have indicated that single nucleotide polymorphism of the ATM gene is associated with increased incidence of lung cancer. At the same time, the ATM gene and its encoding product ATM protein predicts the response to radiotherapy, chemotherapy, and prognosis of lung cancer, thus suggesting that the ATM gene may be a new potential target for the diagnosis and treatment of lung cancer.

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ATM rs189037 (G>A) polymorphism and risk of lung cancer and head and neck cancer: A meta-analysis

Cited by 12 publications

References 29 publications

Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer

Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer

The role of histone modification and a regulatory single-nucleotide polymorphism (rs2071166) in the Cx43 promoter in patients with TOF

The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research

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