Dataset Information

Investigation of GLUT1, HIF1? and TBX21 Gene Polymorphisms in Laryngeal Cancer.

ABSTRACT: Objective:We aimed to investigate the association of the frequency of three single-nucleotide polymorphisms [glucose transporter isoform 1 (GLUT1) reference single-nucleotide polymorphism (rs) 710218, hypoxia-inducible factor 1 alpha (HIF1?) rs11549465, and T-box transcription factor protein 21 (TBX21) rs17250932], which have been proved to be related with various benign and malignant diseases, with the development of laryngeal cancer and its size and grade. Methods:In this study, we included 35 patients with laryngeal cancer and 35 volunteers at least 30 years old who had smoked for at least 20 years. DNA was obtained from the blood samples of the participants using an isolation kit. Then, polymorphisms for both the groups were determined using real-time polymerase chain reaction. Results:No significant differences were detected regarding the genotype and allele frequencies in the three polymorphisms assessed between the two groups. In the patient group, on examining the association of polymorphisms with tumor size and grade, no significant relation was observed in three polymorphisms regarding the related parameters. Conclusion:GLUT1, HIF1?, and TBX21 polymorphisms have no impact on the development of laryngeal cancer.

SUBMITTER: Uslu C

PROVIDER: S-EPMC6123110 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Investigation of GLUT1, HIF1α and TBX21 Gene Polymorphisms in Laryngeal Cancer.

Uslu Cihan C Tüz Mustafa M Yasan Hasan H Okur Erdoğan E

Turkish archives of otorhinolaryngology 20180601 2

<h4>Objective</h4>We aimed to investigate the association of the frequency of three single-nucleotide polymorphisms [glucose transporter isoform 1 (GLUT1) reference single-nucleotide polymorphism (rs) 710218, hypoxia-inducible factor 1 alpha (HIF1α) rs11549465, and T-box transcription factor protein 21 (TBX21) rs17250932], which have been proved to be related with various benign and malignant diseases, with the development of laryngeal cancer and its size and grade.<h4>Methods</h4>In this study, ...[more]

PMID: 30197802

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Project description:The aim of this study was to investigate the association between polymorphism of the cytochrome P450 1B1 (CYP1B1) gene, a metabolic enzyme gene, and the susceptibility to laryngeal cancer among the Chinese Han population.In a case-control study, we investigated polymorphisms in the CYP1B1 gene (rs10012, rs1056827, and rs1056836) with a real-time quantitative polymerase chain reaction (PCR) assay (TaqMan). The study was conducted with 300 Chinese Han patients with laryngeal cancer and 300 healthy Chinese Han subjects in a control group. We also studied the interactions between genetic polymorphism and risk factors such as smoking and alcohol consumption in the pathogenesis of laryngeal cancer.There were statistically significant differences in the distributions of the rs1056827 and rs1056836 genotypes between the 2 groups. Regarding rs1056827, carriers of the T allele had a significantly higher risk of laryngeal cancer than the G-allele carriers (OR=1.4339, 95% CI: 1.1268-1.8247; P=0.0034). The difference was still statistically significant after adjusting for factors such as age, sex, smoking, and drinking (adjusted OR=1.743, 95% CI: 1.124-3.743, P<0.001). However, regarding rs1056836, the G allele carriers had a significantly lower risk of laryngeal cancer than the C allele carriers (OR=0.5557, 95% CI: 0.3787-0.8154; P=0.0027). The difference was statistically significant even after adjusting for factors such as age, sex, smoking, and drinking (adjusted OR=0.5641, 95% CI: 0.3212-0.8121, P=0.001). Subjects who carry the C-T-C haplotype have a significantly increased incidence of laryngeal cancer. We also found that CYP1B1 rs1056827 polymorphism had synergistic effects with smoking or alcohol consumption regarding the risk of laryngeal cancer.CYP1B1 gene polymorphism is closely related to the onset of laryngeal cancer. There is a mutually synergistic effect between smoking, alcohol consumption, and CYP1B1 gene polymorphisms regarding laryngeal cancer.

Project description:BackgroundTBX21 (T cell specific T-box transcription factor) and HLX1 (H.20-like homeobox 1) are crucial transcription factors of T(H)1-cells, inducing their differentiation and suppressing T(H)2 commitment, particularly important for early life immune development. This study investigated the influence of TBX21 and HLX1 single nucleotide polymorphisms (SNPs), which have previously been shown to be associated with asthma, on T(H)1/T(H)2 lineage cytokines at birth.Methods and findingsCord blood mononuclear cells (CBMCs) of 200 neonates were genotyped for two TBX21 and three HLX1 SNPs. CBMCs were stimulated with innate (Lipid A, LpA; Peptidoglycan, Ppg), adaptive stimuli (house dust mite Dermatophagoides pteronyssinus 1, Derp1) or mitogen (phytohemagglutinin, PHA). Cytokines, T-cells and mRNA expression of T(H)1/T(H)2-related genes were assessed. Atopic diseases during the first 3 years of life were assessed by questionnaire answered by the parents. Carriers of TBX21 promoter SNP rs17250932 and HLX1 promoter SNP rs2738751 showed reduced or trendwise reduced (p≤0.07) IL-5, IL-13 and TNF-α secretion after LpA-stimulation. Carriers of HLX1 SNP rs2738751 had lower IL-13 levels following Ppg-stimulation (p = 0.08). Carriers of HLX1 exon 1 SNP rs12141189 showed increased IL-5 (LpA, p = 0.007; Ppg, p = 0.10), trendwise increased IL-13 (LpA), higher GM-CSF (LpA/Ppg, p≤0.05) and trendwise decreased IFN-γ secretion (Derp1+LpA-stimulation, p = 0.1). Homozygous carriers of HLX1 promoter SNP rs3806325 showed increased IL-13 and IL-6 (unstimulated, p≤0.03). In carriers of TBX21 intron 3 SNP rs11079788 no differences in cytokine secretion were observed. mRNA expression of T(H)1/T(H)2-related genes partly correlated with cytokines at protein level. TBX21 SNP rs11079788 carriers developed less symptoms of atopic dermatitis at 3 years of age (p = 0.03).ConclusionsPolymorphisms in TBX21 and HLX1 influenced primarily IL-5 and IL-13 secretion after LpA-stimulation in cord blood suggesting that genetic variations in the transcription factors essential for the T(H)1-pathway may contribute to modified T(H)2-immune responses already early in life. Further follow-up of the cohort is required to study the polymorphisms' relevance for immune-mediated diseases such as childhood asthma.

Dataset Information

Investigation of GLUT1, HIF1? and TBX21 Gene Polymorphisms in Laryngeal Cancer.

Publications

Investigation of GLUT1, HIF1α and TBX21 Gene Polymorphisms in Laryngeal Cancer.

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