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1.
Cell J ; 26(8): 496-504, 2024 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-39380480

RESUMO

OBJECTIVE: Breast cancer is a prevalent and heterogeneous disease, with human epidermal growth factor receptor-2 (HER2) overexpression occurring in over 20% of cases. Poncirin, a biologically active flavonone derived from the immature dried fruits of Poncirus trifoliata, is a 7-O-neohesperidoside of isosakuranetin with a well-documented history in traditional Chinese medicine for its health-promoting properties. While the previous research hinted at its potential as an anticancer agent, its specific effects on HER2 overexpressing breast cancer cells remain largely unexplored. The aim of this study is to investigate the specific effects of Poncirin, on HER2 overexpressing breast cancer cells. MATERIALS AND METHODS: In experimental study, we assessed cell proliferation using the CCK-8 assay and explored cell migration and invasion with transwell assays. Additionally, we evaluated colony formation ability and examined apoptosis through the acridine orange/ethidium bromide (AO/EB) and Annexin V-fluorescein isothiocyanate (FITC)/ propidium iodide (PI) staining methods. The study also delved into the molecular mechanisms involved by scrutinizing the phosphatidylinositol 3-kinase/serine-threonine protein kinase (PI3K/AKT) signaling pathway via Western blotting. Furthermore, the researchers conducted in vivo experiments using mouse models to corroborate the findings in a living organism. RESULTS: Poncirin demonstrated a remarkable ability to selectively inhibit proliferation and metastasis of HER2 overexpressing breast cancer cells. Mechanistically, the compound seemed to exert its effects by modulating the PI3K/AKT signaling pathway, implying its central role in the observed anticancer effects. These findings were further substantiated by in vivo experiments, which consistently showed a reduction in tumor growth when poncirin was administered. CONCLUSION: This study underscores potential of poncirin as a potent agent for restraining the growth and metastasis of HER2 overexpressing breast cancer cells. The evidence suggests that poncirin efficacy may be attributed to its modulation possibly through PI3K/AKT pathway.

2.
Pathol Res Pract ; 262: 155544, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39197215

RESUMO

BACKGROUND: Triple-negative breast cancer (TNBC) is a subtype of breast cancer that lacks the expression of three receptors commonly targeted in breast cancer treatment. In this study, the research focused on investigating the role of centrosomal protein 55 (CEP55) in TNBC progression and its interaction with the transcription factor Spi-1 proto-oncogene (SPI1). METHODS: Various techniques including qRT-PCR, western blotting, and immunohistochemistry assays were utilized to examine gene expression patterns. Functional assays such as wound-healing assay, transwell invasion assay, 5-Ethynyl-2'-deoxyuridine assay, and metabolic assays were conducted to assess the impact of CEP55 on the behaviors of TNBC cells. CD163-positive macrophages were quantified by flow cytometry. The chromatin immunoprecipitation assay and dual-luciferase reporter assay were performed to assess the association of SPI1 with CEP55. A xenograft mouse model experiment was used to analyze the impact of SPI1 on tumor development in vivo. RESULTS: CEP55 and SPI1 expression levels were significantly upregulated in TNBC tissues and cells. The depletion of CEP55 led to decreased TNBC cell migration, invasion, proliferation, glucose metabolism, and M2 macrophage polarization, indicating its crucial role in promoting TNBC progression. Moreover, SPI1 transcriptionally activated CEP55 in TNBC cells, and its overexpression was associated with accelerated tumor growth in vivo. Further, CEP55 overexpression relieved SPI1 silencing-induced inhibitory effects on TNBC cell migration, invasion, proliferation, glucose metabolism, and M2 macrophage polarization. CONCLUSION: SPI1-mediated transcriptional activation of CEP55 plays a key role in enhancing TNBC cell migration, invasion, proliferation, glucose metabolism, and M2 macrophage polarization. These insights provide valuable information for potential targeted therapies to combat TNBC progression by modulating the SPI1-CEP55 axis.


Assuntos
Proteínas de Ciclo Celular , Proliferação de Células , Proto-Oncogene Mas , Ativação Transcricional , Neoplasias de Mama Triplo Negativas , Neoplasias de Mama Triplo Negativas/patologia , Neoplasias de Mama Triplo Negativas/genética , Neoplasias de Mama Triplo Negativas/metabolismo , Humanos , Feminino , Animais , Proteínas de Ciclo Celular/metabolismo , Proteínas de Ciclo Celular/genética , Camundongos , Movimento Celular/genética , Macrófagos/metabolismo , Transativadores/metabolismo , Transativadores/genética , Regulação Neoplásica da Expressão Gênica , Linhagem Celular Tumoral , Ativação de Macrófagos , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Proto-Oncogênicas/genética , Proteínas Nucleares/metabolismo , Proteínas Nucleares/genética , Camundongos Nus
4.
Br J Radiol ; 96(1150): 20230187, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37393531

RESUMO

OBJECTIVE: To develop and validate predictive models based on Ki-67 index, radiomics, and Ki-67 index combined with radiomics for survival analysis of patients with clear cell renal cell carcinoma. METHODS: This study enrolled 148 patients who were pathologically diagnosed as ccRCC between March 2010 and December 2018 at our institute. All tissue sections were collected and immunohistochemical staining was performed to calculate Ki-67 index. All patients were randomly divided into the training and validation sets in a 7:3 ratio. Regions of interests (ROIs) were segmented manually. Radiomics features were selected from ROIs in unenhanced, corticomedullary, and nephrographic phases. Multivariate Cox models based on the Ki-67 index and radiomics and univariate Cox models based on the Ki-67 index or radiomics alone were built; the predictive power was evaluated by the concordance (C)-index, integrated area under the curve, and integrated Brier Score. RESULTS: Five features were selected to establish the prediction models of radiomics and combined model. The C-indexes of Ki-67 index model, radiomics model, and combined model were 0.741, 0.718, and 0.782 for disease-free survival (DFS); 0.941, 0.866, and 0.963 for overall survival, respectively. The predictive power of combined model was the best in both training and validation sets. CONCLUSION: The survival prediction performance of combined model was better than Ki-67 model or radiomics model. The combined model is a promising tool for predicting the prognosis of patients with ccRCC in the future. ADVANCES IN KNOWLEDGE: Both Ki-67 and radiomics have showed giant potential in prognosis prediction. There are few studies to investigate the predictive ability of Ki-67 combined with radiomics. This study intended to build a combined model and provide a reliable prognosis for ccRCC in clinical practice.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Carcinoma de Células Renais/diagnóstico por imagem , Intervalo Livre de Doença , Antígeno Ki-67 , Neoplasias Renais/diagnóstico por imagem , Intervalo Livre de Progressão , Estudos Retrospectivos
5.
J Inflamm Res ; 16: 1761-1770, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37113625

RESUMO

Purpose: This study aims to investigate the prognostic value of preoperative absolute lymphocyte count (preALC) for non-small cell lung cancer (NSCLC) after microwave ablation (MWA) and build a combined nomograph with clinical features to predict the local recurrence. Patients and Methods: A total of 118 NSCLC patients who underwent microwave ablation were enrolled in this study. The median local recurrence-free survival (LRFS) was 35.5 months. Independent prognostic factors obtained by multivariate analysis were included in the prediction model. The prognostic value of the model was assessed by the area under the time-dependent receiver operating characteristic curve (T-AUC). Results: Histological subtype and preALC were independent risk factors for local relapse-free survival. According to the time-dependent receiver operating characteristic curve (T-ROC), the optimal cut-off value of preALC was 1.965×109/L, the sensitivity was 0.837, and the specificity was 0.594. The area under the T-ROC curve (AUC) of preALC was 0.703. To establish a nomogram to predict the local recurrence rate of NSCLC after MWA based on the prognostic factors revealed by Cox regression. Conclusion: Preoperative lymphocyte count reduction is associated with poor prognosis of NSCLC. The nomogram model combined with preALC can provide a good individualized prediction of local recurrence after microwave ablation.

6.
Medicine (Baltimore) ; 102(6): e32868, 2023 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-36820583

RESUMO

RATIONALE: Leiomyoma of the vulva is a rare, benign mass that is present on the vulva. Most commonly, they are described as painless, well-circumscribed, solitary tumors that are misdiagnosed as Bartholin cysts before surgery. PATIENT CONCERNS: A 45-year-old woman presented with a case of vulvar leiomyoma misdiagnosed as Bartholin cyst preoperatively. A solitary swelling mass measuring 3 cm × 2 cm was found in the left labia majora at the Bartholin gland site on physical examination. DIAGNOSES: A vulvar mass extent and vascularity may be determined by imaging. A color doppler flow imaging of the posterior vaginal wall revealed abundant blood flow. INTERVENTION: To confirm vulvar leiomyoma, surgery and histopathology were performed. OUTCOME: After 2 months of follow-up, there were no signs of recurrence in the patient. LESSONS: Rare vulvar leiomyomas are often mistaken for Bartholin's cysts. It is also difficult to distinguish benign from malignant forms, making vulvar leiomyoma a difficult diagnosis. As there are a few techniques used to differentiate between the nature of the tumor, excisional biopsy seems to be the best current procedure employed in addition to being the treatment of choice for such tumors.


Assuntos
Cistos , Leiomioma , Neoplasias Vulvares , Feminino , Humanos , Pessoa de Meia-Idade , Diagnóstico Diferencial , Vulva/patologia , Leiomioma/diagnóstico , Leiomioma/cirurgia , Leiomioma/patologia , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/cirurgia , Neoplasias Vulvares/patologia , Cistos/patologia , Erros de Diagnóstico
7.
Int Heart J ; 63(3): 566-577, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35650157

RESUMO

Telomere length is highly related to cardiovascular diseases. Telomeric zinc finger-associated protein (TZAP) directly binds to telomeric TTAGGG repeats via zinc finger domains and triggers the initiation of the telomere trimming process. However, proteomics analysis of TZAP in cardiomyocytes is slightly unknown. In our study, TZAP was overexpressed by adenovirus transfection in cultured H9c2 cardiomyocytes, and then mass spectrometry-based quantitative proteomics research strategies, including Gene Ontology analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, subcellular localizations, predicted functional domains, and protein-protein interaction (PPI) analysis, were performed to explore TZAP-induced potential pathogenesis in cardiomyocytes. A total of 184 upregulated and 228 downregulated differentially expressed proteins (DEPs) were identified among identified 5693 quantifiable proteins in TZAP-overexpressed cardiomyocytes. These DEPs were mainly distributed in the nucleus, cytoplasm, and plasma membrane. DEPs were enriched in biological processes including cardiac muscle cell contraction, acute inflammatory response, cell-cell junction assembly, and macromolecule biosynthetic process. They were enriched in 9 KEGG pathways, including Hippo signaling pathway, protein digestion and absorption, and cytokine receptor interaction, and enriched in 17 protein domains, including translation initiation factor 1A/IF-1, class I histocompatibility antigen, and zinc finger. PPI analysis indicated that TZAP interacted with NDUFC2, Gja1, and HDAC2. Further, as proteins closely related to cardiovascular function, the mRNA levels of BRD4, Gja1, HDAC2, MAP2K3, Plakophilin 4, and Syndecan 1 significantly decreased, while Trpm7, clusterin, and NDUFC2 remarkably increased in TZAP-overexpressed cardiomyocytes by RT-PCR assay, which were consistent with the proteomics analysis. Collectively, we provided candidate proteins and enrichment pathways in TZAP-overexpressed cardiomyocytes, which need further investigation.


Assuntos
Proteômica , Canais de Cátion TRPM , Proteínas de Ciclo Celular/genética , Complexo I de Transporte de Elétrons/genética , Complexo I de Transporte de Elétrons/metabolismo , Humanos , Espectrometria de Massas , Miócitos Cardíacos/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Proteínas Serina-Treonina Quinases , Canais de Cátion TRPM/genética , Canais de Cátion TRPM/metabolismo , Telômero/metabolismo , Fatores de Transcrição/genética , Dedos de Zinco
8.
Angew Chem Int Ed Engl ; 61(2): e202111700, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34687123

RESUMO

Copper-based materials are efficient electrocatalysts for the conversion of CO2 to C2+ products, and most these materials are reconstructed in situ to regenerate active species. It is a challenge to precisely design precatalysts to obtain active sites for the CO2 reduction reaction (CO2 RR). Herein, we develop a strategy based on local sulfur doping of a Cu-based metal-organic framework precatalyst, in which the stable Cu-S motif is dispersed in the framework of HKUST-1 (S-HKUST-1). The precatalyst exhibits a high ethylene selectivity in an H-type cell with a maximum faradaic efficiency (FE) of 60.0 %, and delivers a current density of 400 mA cm-2 with an ethylene FE up to 57.2 % in a flow cell. Operando X-ray absorption results demonstrate that Cuδ+ species stabilized by the Cu-S motif exist in S-HKUST-1 during CO2 RR. Density functional theory calculations indicate the partially oxidized Cuδ+ at the Cu/Cux Sy interface is favorable for coupling of the *CO intermediate due to the modest distance between coupling sites and optimized adsorption energy.

9.
Membranes (Basel) ; 11(5)2021 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-34068766

RESUMO

Developing monovalent cation permselective membranes (MCPMs) with high-efficient permselectivity is the core concern in specific industrial applications. In this work, we have fabricated a series of novel cation exchange membranes (CEMs) based on sulfonated polysulfone (SPSF) surface modification by polyethyleneimine (PEI) and 4'-aminobenzo-12-crown-4 (12C4) codeposited with dopamine (DA) successively, which was followed by the cross-linking of glutaraldehyde (GA). The as-prepared membranes before and after modification were systematically characterized with regard to their structures as well as their physicochemical and electrochemical properties. Particularly, the codeposition sequence of modified ingredients was investigated on galvanostatic permselectivity to cations. The modified membrane (M-12C4-0.50-PEI) exhibits significantly prominent selectivity to Li+ ions (PMg2+Li+ = 5.23) and K+ ions (PMg2+K+ = 13.56) in Li+/Mg2+ and K+/Mg2+ systems in electrodialysis (ED), which is far superior to the pristine membrane (M-0, PMg2+Li+ = 0.46, PMg2+K+ = 1.23) at a constant current density of 5.0 mA·cm-2. It possibly arises from the synergistic effects of electrostatic repulsion (positively charged PEI), pore-size sieving (distribution of modified ingredients), and specific interaction effect (12C4 ~Li+). This facile strategy may provide new insights into developing selective CEMs in the separation of specific cations by ED.

10.
Biochem Genet ; 59(3): 697-713, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33507447

RESUMO

The expression of IL-2RA and IL-2RB was correlated with breast cancer (BC) progression. However, there is no literature investigating the association of IL-2RA and IL-2RB polymorphisms with BC predisposition among Chinese Han Women. Seven SNPs in IL-2RA and IL-2RB were genotyped by Agena MassARRAY platform among 553 BC patients and 550 healthy controls. Odds ratios (OR) and 95% confidence interval (CI) adjusted for age were calculated for the effect of IL-2RA and IL-2RB variants on BC susceptibility. IL-2RA rs12722498 was a protective factor for BC occurrence (OR = 0.70, p = 0.019), especially in subjects with age ≤ 52 years (OR = 0.55, p = 0.004). IL-2RA rs12569923 (OR = 9.07, p = 0.033), IL-2RB rs2281089 (OR = 0.67, p = 0.043) and rs9607418 (OR = 0.59, p = 0.012) were related to the incidence of estrogen receptor positive (ER +) BC. IL-2RB rs3218264 (OR = 1.38, p = 0.010) and rs9607418 (OR = 0.56, p = 0.009) were associated with the risk of developing progesterone receptor positive (PR +) BC. Rs2281089 (OR = 1.54, p = 0.012) and rs1573673 (OR = 0.72, p = 0.035) were correlated to Ki-67 level. Moreover, IL-2RB rs2281089 (OR = 0.72, p = 0.022) showed a reduced risk of BC metastasis, and IL-2RA rs12722498 (OR = 0.54, p = 0.030) had a lower frequency in BC patients with tumor size > 2 cm. Our study identified the potential effect of genetic variations in IL-2RA and IL-2RB on BC susceptibility and/or BC clinicopathologic indicators among Chinese Han Women.


Assuntos
Neoplasias da Mama/genética , Etnicidade/genética , Predisposição Genética para Doença , Subunidade alfa de Receptor de Interleucina-2/genética , Subunidade beta de Receptor de Interleucina-2/genética , Adulto , Idoso , Neoplasias da Mama/etnologia , Estudos de Casos e Controles , China , Feminino , Humanos , Pessoa de Meia-Idade , Mutação
11.
Pharmacogenet Genomics ; 31(4): 89-95, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-33395025

RESUMO

BACKGROUND: Lung cancer is the leading cause of cancer-related mortality worldwide and CMTM8 is a potential tumor suppressor gene, which is down-regulated in lung cancer. The objective of this research was to assess the association of CMTM8 genetic polymorphisms with lung cancer risk. METHODS: To evaluate the correlation between CMTM8 polymorphisms and lung cancer risk, Agena MassArray platform was used for genotype determination among 509 lung cancer patients and 506 controls. Multiple genetic models, stratification analysis and Haploview analysis were used by calculating odds ratio (OR) and 95% confidence intervals (CIs). RESULTS: Significant associations were detected between CMTM8 rs6771238 and an increased lung cancer risk in codominant (adjusted OR = 1.57, 95% CI: 1.01-2.42, P = 0.044) and dominant (adjusted OR = 1.54, 95% CI: 1.01-2.36, P = 0.047) models. After sex stratification analysis, we observed that rs6771238 was related to an increased risk of lung squamous cell carcinoma, while rs6771238 was associated with an increased risk of lung adenocarcinoma. Rs9835916 was linked to increased risk of lymph node metastasis in lung cancer patients. CONCLUSION: Our study first reported that CMTM8 polymorphisms were a risk factor for lung cancer, which suggested the potential roles of CMTM8 in the development of lung cancer.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/genética , Quimiocinas/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas com Domínio MARVEL/genética , Adulto , Idoso , Alelos , Povo Asiático/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , China , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
12.
J Gene Med ; 23(2): e3298, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33232543

RESUMO

BACKGROUND: Recently, ADCY9 has been found to be highly expressed in colon cancer, and high ADCY9 expressionis a poor prognostic factor of colon cancer. However, no study has reported on the relationship between single nucleotide polymorphisms (SNPs) of ADCY9 and colorectal cancer risk in the Chinese Han population. METHODS: To evaluate the association between four ADCY9 SNPs and colorectal cancer risk, we performed a case-control study including 511 colorectal cancer patients and 511 healthy controls. SNPs were genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). The distributions of alleles and genotypes frequencies between the case and control groups were compared using chi-squared. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression adjusted for age and gender to assess the association between SNPs and colorectal cancer risk. RESULTS: The overall analysis found that rs2230742 was associated with an increased risk of colorectal cancer (AA versus GG: OR = 3.54, 95% CI = 1.16-10.86, p = 0.027; recessive model: OR = 3.55, 95% CI = 1.16-10.85, p = 0.027). Stratification analysis showed that rs2230742 was associated with an increased rectal cancer risk; rs11076810 was associated with a reduced colorectal cancer risk for age > 59 years. No association was observed between other two SNPs and colorectal cancer risk. CONCLUSIONS: Our findings suggest that ADCY9 polymorphisms (rs2230742 and rs11076810) have an effect on colorectal cancer risk in the Chinese Han population. Future association and functional studies are required to confirm our findings and explore the mechanism of ADCY2 in colorectal cancer.


Assuntos
Adenilil Ciclases/genética , Neoplasias Colorretais/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Idoso , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , China , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Medição de Risco
13.
Lipids Health Dis ; 19(1): 221, 2020 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-33046100

RESUMO

BACKGROUNDS: Stroke is a sudden disorder of cerebral blood circulation. Many studies have illustrated that dyslipidemia, hypertension, diabetes, smoking and excessive drinking are the traditional risk factors for stroke. This study aimed to observe the relationship between CYP1A1 and CYP1A2 variants and stroke risk in the Chinese population. METHODS: Agena MassARRAY Assay was used to genotype four single nucleotide polymorphisms (SNPs) in 477 cases and 480 controls. The chi-square test and logistic-regression analysis were used to explore the relationship between CYP1A1 and CYP1A2 variants and stroke risk. RESULTS: Individuals with CYP1A2 rs762551 C was associated with a lower risk of stroke than that of allele A. Age stratification analysis showed that rs762551 was only observed to be associated with a lower risk of stroke in ≤64ys age group. After gender stratification analysis, a significant association between rs762551 and stroke risk was found in males, but not in females. The four SNPs were found to be correlated with stroke risk in patients with hypertension, coronary heart disease, cerebral infarction and lacunar infarction. CONCLUSION: In this study, the results first showed that CYP1A1 and CYP1A2 variants were associated with stroke risk. Larger and well-designed studies are needed to confirm the results.


Assuntos
Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP1A2/genética , Predisposição Genética para Doença , Acidente Vascular Cerebral/genética , Idoso , Alelos , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/patologia
14.
Public Health Genomics ; 23(5-6): 200-209, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33113544

RESUMO

BACKGROUND: Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore the influence of CYP24A1 on the genetic susceptibility of urinary system tumors. MATERIALS AND METHODS: rs6068816, rs2296241, rs2762934, and rs1570669 in 529 patients and 523 controls were genotyped via the Agena MassARRAY. Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals (CIs) of two SNPs with susceptibility of urinary system cancer. Database predicts the expression of the CYP24A1 gene in urinary system cancer. RESULTS: Individuals with the AG genotype of CYP24A1 rs1570669 has a 28% lower risk of developing urinary system tumors (OR = 0.72, 95% CI: 0.56-1.13, p = 0.016) and has a 31% lower risk of developing renal cancer (OR = 0.69, 95% CI: 0.51-0.92, p = 0.012). CONCLUSIONS: CYP24A1 rs1570669 may play an important role in the susceptibility of tumors of the urinary system and renal cancer.


Assuntos
Predisposição Genética para Doença , Neoplasias Renais/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Urológicas/genética , Vitamina D3 24-Hidroxilase/genética , Idoso , Povo Asiático/genética , Estudos de Casos e Controles , Feminino , Variação Genética , Genótipo , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco
15.
Gene ; 757: 144927, 2020 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-32628975

RESUMO

AIM: The incidence of head and neck cancer (HNC) is increasing but its pathogenic factors are complex. Changes in both internal (genetic) and external (environmental) causes HNC to some extent. The purpose of our study was to investigate the influence of IL1R1 polymorphisms on HNC risk in Chinese Han population. METHODS: Genotypes of 535 HNC patients and 538 healthy controls were analyzed by Agena MassARRAY. Odds ratio (ORs) and 95% confidence interval (CIs) were calculated by logistic regression analysis to evaluate the relationship between single nucleotide polymorphisms (SNPs) and HNC susceptibility. RESULTS: It was found that the rs956730 of IL1R1 reduced the risk of HNC in multiple models (allele: OR = 0.76, 95% CI: 0.62-0.93, p = 0.008; codominant: OR = 0.43, 95% CI: 0.25-0.75, p = 0.003; recessive: OR = 0.45, 95% CI: 0.26-0.77, p = 0.004; additive: OR = 0.77, 95% CI: 0.63-0.94, p = 0.01). IL1R1 rs956730 had a protective effect on HNC at age ≤ 46. However, the rs3917225 increased a 1.31-fold HNC risk in the codominant model (OR = 1.31, 95% CI: 1.00-1.70, p = 0.03). CONCLUSION: Our study showed that the rs956730 of IL1R1 gene in Chinese Han population was associated with a reduced risk of HNC, while the rs3917225 of IL1R1 might increase the risk of HNC.


Assuntos
Neoplasias de Cabeça e Pescoço/genética , Polimorfismo de Nucleotídeo Único , Receptores Tipo I de Interleucina-1/genética , Povo Asiático , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
16.
Int J Immunogenet ; 47(6): 546-553, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32333499

RESUMO

Lumbar disc herniation (LDH) is a relatively common spinal disease, but its pathogenesis is still unknown. Numerous studies have shown that LDH is closely correlated with inflammation, and it has been found to be related to some single nucleotide polymorphisms (SNPs). Our purpose is to explore the correlation between gene polymorphisms of GSDMC and LDH risk, which is of great significance for the study of the pathogenesis of LDH. DNA was extracted from 508 LDH patients and 508 controls. We select SNPs with minor allele frequency >5% in GSDMC gene from 1,000 genome project (http://www.internationalgenome.org/). Then, genotyping was performed using Agena MassARRAY. We used unconditional logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (CIs). The haplotype construction and analysis in GSDMC were applied to detect the association. We identified that rs77681114 in the GSDMC gene was significantly associated with a decreased risk of LDH in the alleles model (OR = 0.81, 95% CI = 0.66-0.99, p = .049) and the log-additive model (OR = 0.81, 95% CI = 0.65-0.99, p = .049) adjusted by age and gender. The haplotype "AG" constructed by rs77681114 and rs4285452 (OR = 1.24, 95% CI = 1.01-1.53, p = .039) was associated with increased risk of LDH. After age and gender stratification, rs77681114 protected LDH risk at age 49 or older in allelic model (p = .010), co-dominant model (p = .006), dominant model (p = .029), recessive model (p = .011) and log-additive model (p = .005). Rs77681114 had protective effect on female LDH risk in both co-dominant models (p = .033) and recessive models (p = .043). These studies indicated that genetic polymorphisms of GSDMC can relatively reduce the risk of LDH.


Assuntos
Biomarcadores Tumorais/genética , Proteínas de Ligação a DNA/genética , Deslocamento do Disco Intervertebral/genética , Vértebras Lombares/patologia , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Alelos , Estudos de Casos e Controles , China/epidemiologia , China/etnologia , Etnicidade/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genoma Humano , Genótipo , Haplótipos , Humanos , Deslocamento do Disco Intervertebral/etnologia , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Análise de Regressão , Risco
17.
Mol Genet Genomic Med ; 8(6): e1246, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32329235

RESUMO

BACKGROUND: Cervical cancer is a frequent, common cancer in women, and causes high cancer-related deaths among women in our world. Accumulating studies provided an important evidence for long noncoding RNA (lncRNA) polymorphisms in the susceptibility of various cancer. Here, we recruited 494 cervical cancer cases and 504 unrelated controls to assess the relationship between CASC15 (OMIM# 616610) polymorphisms and cervical cancer susceptibility. METHODS: Agena MassARRAY platform was conducted to genotype CASC15 polymorphisms. Odds ratios (ORs) and 95% confidence intervals (CIs) were analyzed through logistic regression to adjust for confounding factors, such as age and gender. RESULTS: Our study suggested that rs12212674 (NC_000006.12:g.22086845T>A) "A" allele was significantly associated with an increased risk of cervical cancer (OR = 1.31, 95% CI = 1.01-1.69, p = .041). The result was demonstrated in the log-additive model (OR = 1.32, 95% CI = 1.02-1.72, p = .037). After age stratification, we also found that the "TT" genotype of rs4712653 (NC_000006.11:g.22125964T>C) in CASC15 was interaction with a higher cervical cancer risk in subjects aged ≤51 years in the co-dominant model (OR = 2.08, 95% CI = 1.02-4.25, p = .044) and the recessive model (OR = 2.11, 95% CI = 1.05-4.24, p = .036). Whereas no significant correlation was found among other SNPs of CASC15 polymorphisms and the risk of cervical cancer. MDR analysis illustrated that the interaction between rs7740084 (NC_000006.11:g.21727531G>A), rs1555529 (NC_000006.11:g.21691704A>G), and rs12212674 had a certain effect on the progress of cervical cancer. CONCLUSION: Our results revealed a potential interaction between CASC15 polymorphisms and cervical cancer susceptibility. The results provided important insights into CASC15 function in the development of cervical cancer.


Assuntos
Polimorfismo de Nucleotídeo Único , RNA Longo não Codificante/genética , Neoplasias do Colo do Útero/genética , China , Feminino , Humanos , Pessoa de Meia-Idade
18.
Curr Mol Med ; 20(5): 379-387, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31744444

RESUMO

BACKGROUND: Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide, and the overall incidence is increasing. OBJECTIVE: The aim of this study was to evaluate the association between single nucleotide polymorphisms in IL1R2 and EC risk in the Chinese population. METHODS: Genotyping of six SNPs of IL1R2 was performed with the Agena MassARRAY platform from 384 EC and 499 controls. The association between polymorphisms and EC risk was assessed by performing genetics models and haplotype analyses. RESULTS: Overall analysis results showed that the allele C of rs11674595 (odds ratio [OR] = 1.42, 95% confidence interval [CI]: 1.14-1.77, p = 0.002) and allele G of rs2072472 (allele: OR = 1.35, 95% CI: 1.08-1.69, p = 0.008) were associated with an increased EC risk. The rs11674595 and rs2072472 were found to be correlated with EC risk under the codominant, dominant, and additive models. Stratification analysis found that rs11674595 and rs2072472 were associated with increased EC risk in male and in age > 55 years old subgroup. In addition, Crs11674595Grs4851527 haplotype was significantly associated with 1.44-fold increased risk of EC (95% CI: 1.12-1.84, p = 0.004). CONCLUSION: Our results reveal the significant association between SNPs (rs11674595 and rs2072472) in the IL1R2 and EC risk in the Chinese Han population. The findings may provide meaningful reference for the prevention and treatment of EC.


Assuntos
Neoplasias Esofágicas/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores Tipo II de Interleucina-1/genética , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , Feminino , Genótipo , Haplótipos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Risco
19.
J Gene Med ; 22(3): e3131, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31655495

RESUMO

BACKGROUND: Breast cancer represents the cancer with the highest incidence and mortality among women in the world, and its pathogenesis is complex. Single nucleotide polymorphisms (SNPs) are one of the factors that influence the risk of breast cancer. The present study aimed to investigate the effects of LOC105377871 and CASC16 polymorphisms on the risk of breast cancer in the northwest Chinese Han population. METHODS: We selected 503 breast cancer patients and 503 healthy controls for the present study. Genotyping was performed using the Agena MassARRAY system (Agenea Bioscience, San Diego, CA, USA) and we evaluated the association between SNPs (rs17530068 and rs4784227) and the risk of breast cancer in four genetic models. Unconditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: It was found that the rs17530068 increased the breast cancer risk in log-additive model (p = 0.047, OR = 1.23, 95% CI = 1.00-1.50). After stratification, the "T" allele of rs4784227 increased the risk of lymph node metastasis in breast cancer patients (allele: p = 0.025, OR = 1.51, 95% CI = 1.05-2.17; codominant model: p = 0.008, OR = 1.99, 95% CI = 1.20-3.31; dominant model: p = 0.008, OR = 1.94, 95% CI = 1.19-3.16; log-additive model: p = 0.023, OR = 1.52, 95% CI = 1.06-2.19). CONCLUSIONS: The results of the present study show that, in the northwest Chinese Han population, SNP rs17530068 (LOC105377871) increases the risk of breast cancer and SNP rs4784227 (CASC16) promotes lymph node metastasis in breast cancer patients.


Assuntos
Neoplasias da Mama/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , RNA Longo não Codificante/genética , Adulto , Alelos , Povo Asiático/genética , China , Feminino , Frequência do Gene , Técnicas de Genotipagem , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco
20.
Curr Mol Med ; 20(7): 536-547, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31880258

RESUMO

BACKGROUND: MicroRNA (miRNA) is a pivotal regulator of the occurrence and development of various cancers. And gastric cancer (GC) is one of the most common and deadly cancers in the world. The aim of this study is to explore whether the microRNA-143 host gene (miR-143HG) polymorphisms are correlated with the risk of GC. METHODS: 5 single-nucleotide polymorphisms (SNPs) were genotyped among 506 patients and 500 healthy controls in Han Chinese population. Multiple genetic models, stratification analysis and haplotype analysis were used to evaluate the association between miR-143HG polymorphisms and GC risk by calculating odds ratios (ORs), 95% confidence intervals (CIs). RESULTS: Our results indicated that rs11168100 was associated with decreased risk of GC under the Codominant model (OR = 0.67, 95%CI = 0.52-0.88, p = 0.003), and under the Dominant model (OR = 0.72, 95%CI = 0.56-0.92, p = 0.009). Rs353300 was associated with increased risk of GC under the Recessive model (OR = 1.41, 95%CI = 1.06-1.87, p = 0.017). Further, rs11168100 and rs353300 were correlated with the susceptibility of GC (age > 60 years), and three SNPs (rs12654195, rs353303, and rs353300) were related with the risk of GC (age ≤ 60 years). In addition, two SNPs (rs12654195 and rs11168100) were found to be associated with decrease in the susceptibility of GC in the female subgroup. Rs353300 represented two-sided roles in the occurrence and development of GC in female. Finally, rs3533003 was associated with decreased risk of GC in stratified analysis of lymph node metastasis. CONCLUSION: For the first time, our results provide some evidence on the polymorphisms of miR-143HG associated with GC risk in the Chinese Han population.


Assuntos
Predisposição Genética para Doença , Haplótipos , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Gástricas/patologia , Estudos de Casos e Controles , China/epidemiologia , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/genética
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