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1.
Genet Test Mol Biomarkers ; 28(4): 144-150, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38657122

RESUMEN

Objective: The purpose of this study was to evaluate the association between the single nucleotide polymorphisms (SNPs) (EGR3 rs1996147; EGR4 rs3813226, rs6747506; ERBB3 rs2292238; and ERBB4 rs707284, rs7560730) and the risk of schizophrenia (SZ) in a Chinese population. Materials and Methods: We conducted a case-control study, including 248 patients with SZ and 236 healthy controls matched for age and sex. The Mass-array platform was used to detect all the genotypes of the SNPs. Results: The results revealed that the EGR3 rs1996147 AA genotype was associated with borderline decreased SZ risk (AA vs. GG: adjusted OR = 0.43, 95% CI: 0.18-1.02, p = 0.06). However, no significant correlation was found between the other SNPs and overall SZ risk. Subgroup analysis also failed to show any significant association between all SNPs and the risk of SZ. Conclusion: In summary, this study revealed that the EGR3 rs1996147 AA genotype was associated with a borderline risk for SZ.


Asunto(s)
Pueblo Asiatico , Proteína 3 de la Respuesta de Crecimiento Precoz , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Esquizofrenia , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Alelos , Pueblo Asiatico/genética , Estudios de Casos y Controles , China/epidemiología , Proteína 3 de la Respuesta de Crecimiento Precoz/genética , Pueblos del Este de Asia , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Polimorfismo de Nucleótido Simple/genética , Receptor ErbB-4/genética , Factores de Riesgo , Esquizofrenia/genética
3.
Cell Death Dis ; 15(2): 153, 2024 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-38378679

RESUMEN

Breast cancer (BC) is the most commonly diagnosed malignant tumour in females worldwide. Although remarkable advances in early detection and treatment strategies have led to decreased mortality, recurrence and metastasis remain the major causes of cancer death in BC patients. Increasing evidence has demonstrated that circular RNAs (circRNAs) play critical roles in cancer progression. However, the detailed biological functions and molecular mechanisms of circRNAs in BC are unclear. The aim of this study was to investigate the possible role of circRNAs in the progression of BC. Differentially expressed circRNAs in BC were identified by integrating breast tumour-associated somatic CNV data and circRNA high-throughput sequencing. Aberrant hsa_circ_0007990 expression and host gene copy number were detected in BC cell lines via quantitative polymerase chain reaction (qPCR). The expression level of hsa_circ_0007990 in BC tissues was validated by in situ hybridization (ISH). Loss- and gain-of-function experiments were performed in vitro and in vivo, respectively, to explore the potential biological function of hsa_circ_0007990 in BC. The underlying mechanisms of hsa_circ_0007990 were investigated through MS2 RNA pull-down, RNA immunoprecipitation, RNA fluorescence in situ hybridization, immunofluorescence, chromatin immunoprecipitation and luciferase reporter assays. The levels of hsa_circ_0007990 were elevated in BC tissues and cell lines, an effect that was partly due to host gene copy number gains. Functional assays showed that hsa_circ_0007990 promoted BC cell growth. Mechanistically, hsa_circ_0007990 could bind to YBX1 and inhibit its degradation by preventing ubiquitin/proteasome-dependent degradation, thus enhancing the expression of the cell cycle-associated gene E2F1. Rescue experiments suggested that hsa_circ_0007990 promoted BC progression through YBX1. In general, our study demonstrated that hsa_circ_0007990 modulates the ubiquitination and degradation of YBX1 protein and further regulates E2F1 expression to promote BC progression. We explored the possible function and molecular mechanism of hsa_circ_0007990 in BC and identified a novel candidate target for the treatment of BC.


Asunto(s)
Neoplasias de la Mama , MicroARNs , Femenino , Humanos , ARN Circular/genética , ARN Circular/metabolismo , Neoplasias de la Mama/patología , Proteolisis , Hibridación Fluorescente in Situ , Línea Celular Tumoral , Proliferación Celular/genética , ARN/genética , MicroARNs/genética , Regulación Neoplásica de la Expresión Génica/genética , Proteína 1 de Unión a la Caja Y/genética , Proteína 1 de Unión a la Caja Y/metabolismo , Factor de Transcripción E2F1/metabolismo
4.
Microbiol Spectr ; : e0055023, 2023 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-37732751

RESUMEN

To investigate the antibiotic resistance of Helicobacter pylori (H. pylori) in outpatients and to explore the consistency between genotype and phenotype of H. pylori antibiotic resistance. A retrospective study on outpatients screened with urea breath test for H. pylori infection in Nanjing First Hospital from April 2018 to January 2022. Patients who tested positive underwent a consented upper endoscopy, and the H. pylori infection was confirmed by rapid urease test (RUT) and H. pylori culture. For antibiotic resistance phenotype analysis, the H. pylori strains isolated from gastric biopsy were tested for antibiotic resistance phenotype by the Kirby-Bauer disk diffusion test. In addition, the antibiotic resistance genotype of isolated H. pylori was tested with a real-time polymerase chain reaction. A total of 4,399 patients underwent H. pylori infection screening, and 3,306 H. pylori strains were isolated. The antibiotic resistance phenotype test revealed that the resistance rates of metronidazole (MTZ), clarithromycin (CLR), levofloxacin (LEV), amoxicillin (AMX), furazolidone (FR), and tetracycline (TE) were 74.58%, 48.61%, 34.83%, 0.76%, 0.27%, and 0.09%, respectively. Additionally, the antibiotic resistance genotype test revealed that rdxA gene mutation A610G (92.96%), A91G (92.95%), C92A (93.00%), and G392A (95.07%) were predominant in H. pylori with MTZ resistance; 23S rRNA gene mutation A2143G (86.47%) occurred in most H. pylori with CLR resistance; and gyrA gene mutation 87Ile/Lys/Tyr/Arg (97.32%) and 91Asn/Gly/Tyr (90.61%) were the most popular mutations in strains with LEV resistance. The phenotypic resistance and genotypic resistance to CLR (kappa value = 0.824) and LEV (kappa value = 0.895) were in good agreement. The history of eradication with MTZ, CLR, LEV, and AMX was correlated with H. pylori resistance. In short, this study demonstrated that drug resistance of H. pylori was mainly to MTZ, CLR, and LEV in local outpatients. Three drugs can be selected for increased MICs (Minimum Inhibitory Concentration) via single chromosomal mutations. In addition, the genotype could be used to predict the phenotypic H. pylori resistance to CLR and LEV. IMPORTANCE Helicobacter pylori is a key bacterium that causes stomach diseases. There was a high prevalence of H. pylori in the Chinese population. We analyzed the resistance phenotype and genotype characteristics of H. pylori in 4,399 outpatients at the First Hospital of Nanjing, China. We found a higher resistance rate to metronidazole (MTZ) , clarithromycin (CLR), and levofloxacin (LEV), and the genotype could be used to predict the phenotypic H. pylori resistance to CLR and LEV. This study provides information on H. pylori infection and also provides guidance for clinical doctors' drug treatment.

5.
Cancer Res ; 83(21): 3636-3649, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-37602818

RESUMEN

An effective blood-based method for the diagnosis of colorectal cancer has not yet been developed. Molecular alterations of immune cells occur early in tumorigenesis, providing the theoretical underpinning for early cancer diagnosis based on immune cell profiling. Therefore, we aimed to develop an effective detection method based on peripheral blood mononuclear cells (PBMC) to improve the diagnosis of colorectal cancer. Analysis of the genome-wide methylation landscape of PBMCs from patients with colorectal cancer and healthy controls by microarray, pyrosequencing, and targeted bisulfite sequencing revealed five DNA methylation markers for colorectal cancer diagnosis, especially early-stage colorectal cancer. A single-tube multiple methylation-specific quantitative PCR assay (multi-msqPCR) for simultaneous detection of five methylation markers was established, which allowed quantitative analysis of samples with as little as 0.1% PBMC DNA and had better discriminative performance than single-molecule detection. Then, a colorectal cancer diagnostic model (CDM) based on methylation markers and the multi-msqPCR method was constructed that achieved high accuracy for early-stage colorectal cancer (AUC = 0.91; sensitivity = 81.18%; specificity = 89.39%), which was improved compared with CEA (AUC = 0.79). The CDM also enabled a high degree of discrimination for advanced adenoma cases (AUC = 0.85; sensitivity = 63.04%). Follow-up data also demonstrated that the CDM could identify colorectal cancer potential up to 2 years before currently used diagnostic methods. In conclusion, the approach constructed in this study based on PBMC-derived DNA methylation markers and a multi-msqPCR method is a promising and easily implementable diagnostic method for early-stage colorectal cancer. SIGNIFICANCE: Development of a diagnostic model for early colorectal cancer based on epigenetic analysis of PBMCs supports the utility of altered DNA methylation in immune cells for cancer diagnosis.


Asunto(s)
Neoplasias Colorrectales , Metilación de ADN , Humanos , Leucocitos Mononucleares/metabolismo , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/genética , ADN/genética , Detección Precoz del Cáncer , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo
6.
Nat Commun ; 14(1): 4724, 2023 08 07.
Artículo en Inglés | MEDLINE | ID: mdl-37550304

RESUMEN

The immune system can monitor tumor development, and DNA methylation is involved in the body's immune response to tumors. In this work, we investigate whether DNA methylation alterations in peripheral blood mononuclear cells (PBMCs) could be used as markers for early detection of breast cancer (BC) from the perspective of tumor immune alterations. We identify four BC-specific methylation markers by combining Infinium 850 K BeadChips, pyrosequencing and targeted bisulfite sequencing. Based on the four methylation markers in PBMCs of BC, we develop an efficient and convenient multiplex methylation-specific quantitative PCR assay for the detection of BC and validate its diagnostic performance in a multicenter cohort. This assay was able to distinguish early-stage BC patients from normal controls, with an AUC of 0.940, sensitivity of 93.2%, and specificity of 90.4%. More importantly, this assay outperformed existing clinical diagnostic methods, especially in the detection of early-stage and minimal tumors.


Asunto(s)
Neoplasias de la Mama , Metilación de ADN , Humanos , Femenino , Metilación de ADN/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Leucocitos Mononucleares/patología , Biomarcadores de Tumor/genética , Detección Precoz del Cáncer/métodos , Reacción en Cadena de la Polimerasa Multiplex
7.
BMC Cancer ; 23(1): 509, 2023 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-37277745

RESUMEN

OBJECTIVE: E2F1 has been confirmed to be highly expressed in a variety of cancers. To better understand the prognostic value of E2F1 in cancer patients, this study was conducted to comprehensively evaluate the prognostic value of E2F1 in cancer according to published data. METHOD: PubMed, Web of Science and CNKI database were searched until May 31th, 2022 by using key words to retrieve the published essays on the role of E2F1 expression in the prognostic value of cancer. The essays were identified according to the inclusion and exclusion criteria. The pooled result of hazard ratio and 95% confidence interval was calculated with Stata17.0 software. RESULT: A total of 17 articles were included in this study involved in 4481 cancer patients. The pooled results showed that higher E2F1 expression was significantly correlated with unfavorable overall survival (HR = 1.10, I2 = 95.3%, *PHeterogeneity = 0.000) and disease-free survival (HR = 1.41, I2 = 95.2%, *PHeterogeneity = 0.000) of cancer patients. Such a significant association of was maintained subgroup of sample size of patients (> 150: for OS, HR = 1.77, and for DFS, HR = 0.91; or < 150: for OS, HR = 1.93, and for DFS, HR = 4.39), ethnicity (Asian: for OS, HR = 1.65, and for DFS, HR = 1.08; or not Asian: HR = 3.55, and for DFS, HR = 2.87), the data from database (clinical: for OS, HR = 1.24, and for DFS, HR = 1.40; or database: for OS, HR = 2.29, and for DFS, HR = 3.09), paper published year (after 2014: for OS, HR = 1.90;and for DFS,HR = 1.87; or before 2014: for OS, HR = 1.40, and for DFS, HR = 1.22); cancer type (female specific cancer: for OS, HR = 1.41, and for DFS, HR = 0.64; or non-gender specific cancers: for OS, HR = 2.00, and for DFS, HR = 2.95). In addition, according to the database data, we also found that higher E2F1 expression level would lead to worse prognosis of patients, and the results were consistent with the statistical analysis results in the paper. CONCLUSION: E2F1 could be served as a prognostic biomarker in cancer patients and higher levels of in cancer patients could predict shorter overall survival and disease-free survival.


Asunto(s)
Neoplasias , Humanos , Femenino , Pronóstico , Neoplasias/genética , Neoplasias/metabolismo , Supervivencia sin Enfermedad , Supervivencia sin Progresión , Expresión Génica , Factor de Transcripción E2F1/genética , Factor de Transcripción E2F1/metabolismo
8.
Pathol Res Pract ; 247: 154544, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37235911

RESUMEN

MicroRNA-27a (miR-27a) has been reported to be abnormally expressed in patients with cancer, and it could play potential roles as a diagnostic and prognostic biomarker of cancers. However, the diagnostic and prognostic role remains unclear. Hence, this meta-analysis, based on published data, was conducted to assess the utility of miR-27a as a diagnostic and prognostic marker in various cancers. To identify eligible studies, databases: Web of Science, PubMed, and CNKI were searched, with 868 literatures obtained, 16 of which were included in the Meta-analysis. The pooled results of studies conducted with serum/plasma showed that miR-27a was a valuable diagnostic biomarker in cancers (area under curve (AUC)= 0.91, sensitivity (SEN)= 0.84, specificity (SPE)= 0.85), with the diagnostic value slightly reduced in tumor tissue samples (AUC=0.83, SEN=0.78, SPE: 0.74). Additionally, the pooled results revealed that high expression of miR-27a predicted poor prognosis of cancer in serum/plasma (hazard ratio (HR) = 0.63, PHeterogeneity = 0.278, I2= 21.50%) but not in tumor tissue (HR = 0.98, PHeterogeneity =0.577, I2= 0.0). In brief, our results suggested that miR-27a in serum/plasma or tumor tissue could act as a diagnostic biomarker, and that miR-27a in serum/plasma could predict cancer patients' survival.


Asunto(s)
MicroARNs , Neoplasias , Humanos , MicroARNs/genética , MicroARNs/metabolismo , Pronóstico , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Neoplasias/diagnóstico , Neoplasias/genética , Modelos de Riesgos Proporcionales
9.
Angew Chem Int Ed Engl ; 62(31): e202302000, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37147187

RESUMEN

Colonization of cancer cells at secondary sites, a decisive step in tumor metastasis, is strongly dependent on the formation of metastatic microenvironments regulated by intrinsic single-cell metabolism traits. Herein, we report a single-cell microfluidic platform for high-throughput dynamic monitoring of tumor cell metabolites to evaluate tumor malignancy. This microfluidic device empowers efficient isolation of single cells (>99 %) in a squashed state similar to tumor extravasation, and employs enzyme-packaged metal-organic frameworks to catalyze tumor cell metabolites for visualization. The microfluidic evaluation was confirmed by in vivo assays, suggesting that the platform allowed predicting the tumorigenicity of captured tumor cells and screening metabolic inhibitors as anti-metastatic drugs. Furthermore, the platform efficiently detected various aggressive cancer cells in unprocessed whole blood samples with high sensitivity, showing potential for clinical application.


Asunto(s)
Estructuras Metalorgánicas , Técnicas Analíticas Microfluídicas , Neoplasias , Humanos , Microfluídica , Análisis de la Célula Individual , Línea Celular Tumoral , Microambiente Tumoral
10.
Front Pharmacol ; 13: 938419, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36278195

RESUMEN

Background: The cure rates of Helicobacter pylori (H. pylori) treatment using a proton pump inhibitor (PPI) are gradually decreasing due to antibiotic resistance, poor compliance, high gastric acidity, and cytochrome P450 2C19 (CYP2C19) polymorphism, and the effects of PPI depend on metabolic enzymes, cytochrome P450 enzymes. The aim of this meta-analysis was to determine whether CYP2C19 polymorphisms affect H. pylori cure rates in patients treated with different proton pump inhibitors (PPIs) according to stratified analysis. Materials and methods: The literature was searched with the key words "H. pylori" and "CYP2C19" in PubMed, CNKI, and Wanfang up to 31 May 2022, and the studies were limited to clinical observational or randomized controlled trials (RCTs). Finally, seven RCTs and 29 clinical observational studies met the inclusion criteria and were used for the meta-analysis via STATA version 16. Results: The cure rates were significantly different between genotypes of homozygous extensive metabolizers (EM) and poor metabolizers (PM) (OR = 0.58, 95% CI: 0.47-0.71) and between EM and heterozygous extensive metabolizers (IM) (OR = 0.71, 95% CI: 0.59-0.86), but not between IM and PM. Moreover, there was a significantly lower H. pylori cure rate in EM subjects than that in IM subjects when treated with omeprazole (66.4% vs. 84.1%), lansoprazole (76.1% vs. 85.6%), but not rabeprazole, esomeprazole, or pantoprazole. In addition, there was a significantly lower H. pylori cure rate in EM subjects than that in IM subjects when treated with a PPIs for 7 days (77.4% vs. 82.1%), but not 14 days (85.4% vs. 90.0%). Conclusion: Carriers of CYP2C19 loss-of-function variant alleles (IM and PM) exhibit a significantly greater cure rate of H. pylori than noncarriers (EM) regardless of other factors (84.7% vs. 79.2%). In addition, pantoprazole- and rabeprazole-based quadruple therapy for H. pylori treatment is less dependent on the CYP2C19 genotype and should be prioritized in Asian populations with H. pylori.

11.
Front Genet ; 13: 927079, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36118845

RESUMEN

Previous studies demonstrated that microRNAs (miRNAs) could serve as biomarkers in various cancers. This meta-analysis aimed to determine the roles of a miR-17-92 cluster in hepatocellular carcinoma (HCC). Here, eligible included studies were searched through PubMed, Embase, and Wan Fang databases up to 1st February 2022. Relevant data were extracted from each eligible study to evaluate the relationship between miRNA-17-92 cluster miRNA expression and the diagnosis and prognosis of HCC. Finally, a total of 21 studies were pooled and included in the meta-analysis, of which four articles were used for diagnostic meta-analysis and eight articles were used for prognostic meta-analysis. The pooled sensitivity, specificity, and diagnostic odds ratios (DOR) of the miR17-92 cluster for diagnosis of HCC were 0.75 [95% confidence interval (CI): 0.64-0.83], 0.73 (95% CI: 0.65-0.79), and 7.87 (95% CI: 5.36-11.54), respectively. Also, the area under the curve (AUC) for the miR-17-92 cluster when diagnosing HCC was 0.79 (95% CI: 0.76-0.83). For prognostic analysis, hazard ratios (HRs) with 95% CIs were extracted from the included studies and pooled HRs were determined to assess the associations. Patients with increased expression of miR17-92 cluster miRNA were associated with poor overall survival (OS) and recurrence-free survival (RFS) (HR=1.86, 95% CI: 1.04-3.33; HR = 4.18, 95% CI: 3.02-5.77, respectively), but not progression-free survival (PFS) (HR = 0.43, 95% CI: 0.25-0.73), while no association of the miR-17-92 cluster high-expression was detected with disease-free survival (DFS) (HR: 0.95, 95% CI: 0.21-4.34). In short, current pieces of evidence suggested that the miR-17-92 cluster may serve as a novel diagnostic and prognostic biomarker for HCC. However, given the limited study number, larger-size, multi-center, and higher-quality studies are indispensable in the future.

12.
Pharmgenomics Pers Med ; 15: 441-448, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35548064

RESUMEN

Background: DNA methylation in the CpG island is associated with gastric cancer, genetic variations residue in genes involved in methylation pathway could contribute to the occurrence of gastric cancer. Here, we investigated the association between DNMTs (DNMT1/DNMT3A/DNMT3B), MTHFR genetic variations and gastric cancer risk and patients' survival. Patients and Methods: We recruited 490 gastric cancer patients and 488 age- and sex-matched healthy controls. The genotypes of the genetic variations were detected by a Mass-array platform. A commercial Helicobacter pylori (H. pylori) immunogold testing kit was used to determine the H. pylori infection. Results: We found that carriers of DNMT1 rs2228612C allele was associated with decreased gastric cancer risk (CT vs. TT: adjusted OR = 0.70, 95% CI = 0.53-0.94, P = 0.02; CT/CC vs.TT: adjusted OR = 0.73, 95% CI = 0.56-0.96, P = 0.02). Further stratified analysis showed that DNMT1 rs2228612 CT/CC were associated with a decreased gastric cancer risk in the subgroups of age ≤64 years old (adjusted OR = 0.61, 95% CI = 0.41-0.90, P = 0.01), male (adjusted OR = 0.72, 95% CI = 0.53-0.98, P = 0.03), negative H. pylori infection (adjusted OR = 0.67, 95% CI = 0.45-0.98, P = 0.04), tumor stage T3-T4 (adjusted OR = 0.69, 95% CI = 0.51-0.92, P = 0.01), and non-gastric cardiac adenocarcinoma (NGCA) (adjusted OR = 0.72, 95% CI = 0.54-0.97, P = 0.03). However, none of the genetic variations of this study was associated with overall survival. Conclusion: We concluded that the DNMT1 rs2228612C genotype is a protective factor for gastric cancer in Han Chinese population.

13.
Mol Ther Nucleic Acids ; 27: 824-837, 2022 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-35141044

RESUMEN

As the most prevalent type of RNA modification in eukaryotes, N6-methyladenosine (m6A) can modulate RNA fates such as processing, splicing, maturation, export, stability, translation, and degradation. Circular RNAs (circRNAs), a novel type of non-coding RNA (ncRNAs) characterized by a covalently closed loop structure, play an essential role in various physiological and pathological processes. Extensive studies have revealed that m6A modification is widespread in circRNAs and influences their biogenesis and functions. Intriguingly, circRNAs can affect m6A modification by regulating m6A regulatory proteins. In this review, we summarize the characteristics and biological functions of m6A and circRNAs and focus on recent advances in the interaction of m6A modification and circRNAs. In addition, the potential clinical applications of m6A modification and circRNAs in diagnosis and therapeutic targets are discussed.

14.
Pharmgenomics Pers Med ; 15: 9-16, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35046699

RESUMEN

OBJECTIVE: The aim of this study is to assess the relationship between the single-nucleotide polymorphism (SNP) in the one-carbon metabolism pathway (MTR rs1805087; MTHFR rs1801133; ALDH1L1 rs2002287, rs2276731; DNMT1 rs16999593, rs2228611; DNMT3B rs2424908) and the risk of female breast cancer (BC) in a Chinese population. METHODS: A population-based case-control study was conducted, involving a total of 439 BC patients and 439 age-matched healthy controls. We adopted Sequence MASSarray to identify genotyping, and used immunohistochemistry (IHC) to test the expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2) in tumor tissue. RESULTS: We found that rs16999593 (TC/CC vs TT: adjusted OR=1.38, 95% CI: 1.03-1.84, p=0.030) was associated with an increased risk of BC, while rs2228611 was related to a decreased BC risk (GA/AA vs GG: adjusted OR=0.74, 95% CI: 0.56-0.97, p=0.030). In addition, stratified analysis revealed that DNMT1 rs16999593, rs2228611 and ALDH1L1 rs2002287 contributed to the risk of BC, with associations with ER, PR and HER-2 expression. CONCLUSION: In summary, this study revealed that DNMT1 rs16999593 and rs2228611 were associated with BC risk.

15.
Pharmgenomics Pers Med ; 14: 977-986, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34413669

RESUMEN

BACKGROUND: Inflammation proteins play an important role in stroke occurrence. IL1A, IL1B, PTGS2, MMP2, and MMP9 were the mediators involved in the immune response, and the association of these genetic variations with ischemic stroke (IS) risk was still unclear. METHODS: To investigate the susceptibility of genetic variations of IL1A, IL1B, PTGS2, MMP2, and MMP9 to IS risk, we performed a case-control study involving 299 patients and 300 controls in a Chinese population. Thirteen genetic variations of investigated genes of all participants were genotyped using an improved multiplex ligase detection-reaction technique. RESULTS: No SNP in all genes showed an association with overall IS. However, in subgroup analysis, PTGS2 rs689466 (dominant model: CT vs TT - ORadjusted= 2.51, 95% CI: 1.22-5.16, p = 0.012; co-dominant model: CT/CC vs TT - ORadjusted= 2.53, 95% CI: 1.26-5.07, p = 0.009; additive model - ORadjusted= 2.26, 95% CI: 1.19-4.28, p = 0.013) and rs5275 (dominant model: GG vs AA - ORadjusted= 0.31, 95% CI: 0.12-0.80, p = 0.016; co-dominant model: GA/GG vs AA - ORadjusted= 0.45, 95% CI: 0.21-0.95, p = 0.036; additive model - ORadjusted= 0.60, 95% CI: 0.39-0.92, p = 0.020) were associated with IS type of small-vessel occlusion. CONCLUSION: Our study suggested that PTGS2 rs689466 C and rs5275 A were potentially associated with IS subtype of small-vessel occlusion. Our result should be confirmed with further large sample sized studies.

16.
Biosci Rep ; 41(1)2021 01 29.
Artículo en Inglés | MEDLINE | ID: mdl-33289788

RESUMEN

MicroRNA-196a (miR-196a) was previously reported to be up-regulated in cancers, and it has the diagnostic and prognostic values in cancers. Whereas, the conclusion was still unclear according to the published data. To assess such roles of miR-196a in cancers, the present study was conducted based on published data and online cancer-related databases. To identify the relevant published data, we searched articles in databases and then the relevant data were extracted to evaluate the correlation between miR-196a expression and diagnosis, prognosis for cancer patients. The pooled results showed that miR-196a was a valuable diagnostic biomarker in cancer (area under curve (AUC) = 0.87, 95% CI: 0.84-0.90; sensitivity (SEN) = 0.73, 95% CI: 0.64-0.81; specificity (SPE) = 0.90, 95% CI: 0.81-0.95), which was consistent with the data from databases (breast cancer: miR-196a-3p: AUC = 0.77, 95% CI: 0.74-0.79; miR-196a-5p: AUC = 0.71, 95% CI: 0.66-0.75; pancreatic cancer: miR-196a-3p: AUC = 0.80, 95% CI: 0.73-0.87; miR-196a-5p: AUC = 0.61, 95% CI: 0.51-0.71). In addition, the pooled result revealed that elevated miR-196a expression in tumor tissues (HR = 2.54, 95% CI: 1.79-3.61, PHeterogeneity=0.000, I2 = 75.8%) or serum/plasma (HR = 4.06, 95% CI: 2.67-6.18, PHeterogeneity=0.668, I2 = 0%) of patients was an unfavorable survival biomarker, which was consistent with the data from databases (adrenocortical carcinoma: HR = 5.70; esophageal carcinoma: HR = 1.93; brain lower grade glioma: HR = 2.91; GSE40267: HR = 2.47, 95% CI: 1.2-5.07; TCGA: HR = 1.82, 95% CI: 1.21-2.74; GSE19783: HR = 4.24, 95% CI: 1-18.06). In short, our results demonstrated that miR-196a in tumor tissue or serum/plasma could be used as a prognostic and diagnostic values for cancers.


Asunto(s)
Biomarcadores de Tumor/genética , MicroARNs/genética , Neoplasias/genética , Bases de Datos Genéticas , Regulación Neoplásica de la Expresión Génica , Humanos , Neoplasias/diagnóstico , Neoplasias/patología
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