The association between hypoxia inducible factor 1 subunit alpha gene rs2057482 polymorphism and cancer risk: a meta-analysis

Wu, Lifang; Xu, Gui-Ping; Zhao, Qing; Zhou, Lijin; Wang, Ding; Chen, Weixian

doi:10.1186/s12885-019-6329-2

Cited by 6 publications

(4 citation statements)

References 41 publications

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“…The possible importance of variant alleles in rs11549465 with respect to RCC susceptibility was proposed in European patients [21]. Additionally, the meta-analysis by Wu et al (2019) performed on Asian population revealed that the polymorphism rs2057482 was associated with decreased overall cancer risk [55]. On the other hand, no significant differences between RCC cases and controls in genotype frequencies for rs11549465 and rs2057482 were observed in the Chinese population [22].…”

Section: Discussionmentioning

confidence: 99%

Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma

Vargova,

Kolková,

Dargaj

et al. 2024

Pathol. Oncol. Res.

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Introduction: Clear cell renal cell carcinoma (ccRCC) is mostly diagnosed incidentally and has relatively high recurrence rates. Alterations in VHL/HIF and mTOR pathways are commonly present in ccRCC. The present study attempted to identify potential diagnostic markers at the biochemical and molecular level.Methods: In total, 54 subjects (36 patients with ccRCC and 18 cancer-free controls) were enrolled. ELISA was used to measure the levels of HIF-1α in the tumor and healthy kidney tissue. The association between five selected SNPs (rs779805, rs11549465, rs2057482, rs2295080 and rs701848) located in genes of pathologically relevant pathways (VHL/HIF and mTOR) and the risk of ccRCC in the Slovak cohort was studied using real-time PCR.Results: Significant differences in HIF-1α tissue levels were observed between the tumor and healthy kidney tissue (p < 0.001). In the majority (69%) of cases, the levels of HIF-1α were higher in the kidney than in the tumor. Furthermore, the concentration of HIF-1α in the tumor showed a significant positive correlation with CCL3 and IL-1β (p (R2) 0.007 (0.47); p (R2) 0.011 (0.38). No relationship between intratumoral levels of HIF-1α and clinical tumor characteristics was observed. Rs11549465, rs2057482 in the HIF1A gene did not correlate with the expression of HIF-1α either in the tumor or in the normal kidney. None of the selected SNPs has influenced the susceptibility to ccRCC.Conclusion: More research is neccesary to elucidate the role of HIF-1α in the pathogenesis of ccRCC and the association between selected SNPs and susceptibility to this cancer.

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Section: Discussionmentioning

confidence: 99%

Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma

Vargova,

Kolková,

Dargaj

et al. 2024

Pathol. Oncol. Res.

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“…The genetic association of HIF1A with cancer risk has been universally confirmed over the past few years. 32 , 33 Guo et al have assessed the associations of three functional SNPs (rs2057482, rs1957757, and rs2301113) with clinicopathological parameters and prognosis of surgical HCC patients and found that HIF1A rs2057482 is significantly associated with clinical outcomes of Chinese HCC patients after surgery, especially in those with aggressive status. 34 In addition, functional assay indicated the potential effect of rs2057482 on gene expression.…”

Section: Discussionmentioning

confidence: 99%

Associations Between Single Nucleotide Polymorphisms of Hypoxia-Related Genes and Capsule Formation in Hepatocellular Carcinoma

Chen,

Duan,

Zhang

et al. 2023

JHC

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Purpose Tumor capsule is an independent prognostic factor for patients with hepatocellular carcinoma (HCC) and used increasingly to guide clinical decision-making. Considering the genetic complexity for capsule formation and its potential association with hypoxia, the significance of the polymorphisms of hypoxia-related genes in capsule formation and HCC prognosis remains to be elucidated. Patients and Methods Peripheral blood samples from HCC patients were collected in this study. Single nucleotide polymorphism (SNP) genotyping was conducted by the iPLEX chemistry on a matrix-assisted laser desorption/ionization time-of-flight mass spectrometer (Sequenom, Inc.). The demographic and clinical data for the patients were obtained through medical chart review and/or consultation with the treating physicians. SPSS 25.0, R 4.1.1, and PLINK toolset were used to perform statistical analysis. Results A total of 183 patients were enrolled, including 88 patients assigned to the capsule group and 95 to the non-capsule group. SLC2A1 rs841858 T allele, SLC2A1 rs2297977 T allele, STAT1 rs1547550 C allele, and STAT1 rs34997637 G allele were associated with significantly increased risk of capsule formation. The genotypes of SLC2A1 rs841858, SLC2A1 rs2297977, STAT1 rs34997637, and STAT1 rs1914408 were significantly associated with the formation of HCC capsule. The polymorphisms of STAT1 rs2066802, STAT1 rs12693591, and HIF1A rs2057482 showed close relationship with the prognosis of HCC patients in the capsule group, while the genotype distributions of CTNNB1 rs4135385, IFNG rs1861494, and SERPINE1 rs2227631 were closely related to the survival of patients in the non-capsule group. Further haplotype analysis suggested that SLC2A1 block 1 and STAT1 block 2 were related to the susceptibility of HCC capsule. Conclusion The polymorphisms of the hypoxia-related genes (HIF1A, SERPINE1, IFNG, STAT1, CTNNB1, and SLC2A1) were correlated with the formation of HCC capsule. Several SNPs in these genes also showed association with HCC prognosis except SLC2A1. Further functional studies are warranted to explore the underlying mechanisms.

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“…Renal fibrosis and cancer progression have been linked through several common pathomechanistic pathways including tissue hypoxia, inflammation and oxidative stress. Furthermore, there are several common mediators, such as transforming growth factor beta (TGF-beta)—a key driver of malignant transformation—as well as tissue fibrosis, the involvement of fibroblasts in fibrosis and in the tumor microenvironment, or hypoxia-inducible factor-1 (HIF-1) [ 2 , 3 , 4 , 5 ]. These factors (TGF-beta fibroblasts, HIF-1alpha) are the most important factors in wound healing and tissue repair; however, if they remain activated following healing of an acute injury such as hypoxia, they are the key factors of fibrosis progression.…”

Section: Mainmentioning

confidence: 99%

A New Role of Acute Phase Proteins: Local Production Is an Ancient, General Stress-Response System of Mammalian Cells

Hamar

2022

IJMS

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The prevailing general view of acute-phase proteins (APPs) is that they are produced by the liver in response to the stress of the body as part of a systemic acute-phase response. We demonstrated a coordinated, local production of these proteins upon cell stress by the stressed cells. The local, stress-induced APP production has been demonstrated in different tissues (kidney, breast cancer) and with different stressors (hypoxia, fibrosis and electromagnetic heat). Thus, this local acute-phase response (APR) seems to be a universal mechanism. APP production is an ancient defense mechanism observed in nematodes and fruit flies as well. Local APP production at the tissue level is also supported by sporadic literature data for single proteins; however, the complex, coordinated, local appearance of this stress response has been first demonstrated only recently. Although a number of literature data are available for the local production of single acute-phase proteins, their interpretation as a local, coordinated stress response is new. A better understanding of the role of APPs in cellular stress response may also be of diagnostic/prognostic and therapeutic significance.

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The association between hypoxia inducible factor 1 subunit alpha gene rs2057482 polymorphism and cancer risk: a meta-analysis

Cited by 6 publications

References 41 publications

Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma

Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma

Associations Between Single Nucleotide Polymorphisms of Hypoxia-Related Genes and Capsule Formation in Hepatocellular Carcinoma

A New Role of Acute Phase Proteins: Local Production Is an Ancient, General Stress-Response System of Mammalian Cells

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