RESUMO
BACKGROUND alpha-actinin-4 (Actinin-4 or ACTN4), originally identified as an actin-binding protein associated with the biological function of cancer cells, appears to be highly expressed in numerous human epithelial carcinomas, including breast cancer (BC). In the present study we assessed the role of serum ACTN4 as a biomarker for BC diagnosis, as well as the association between ACTN4 levels and clinicopathological features. MATERIAL AND METHODS ACTN4 expression level was measured with quantitative real-time PCR (qRT-PCR) analysis in serum specimens of 128 BC patients and 96 healthy volunteers. χ² testing was conducted to explore the association of ACTN4 levels with clinicopathologic factors. Moreover, the diagnostic value of ACTN4 was analyzed using receiver operating characteristic (ROC) curves. RESULTS Serum ACTN4 level was obviously upregulated in patients with BC compared with healthy controls (P<0.05). High ACTN4 expression was significantly associated with clinical stage (P=0.000), tumor grade (P=0.004), and lymph node status (P=0.024). However, no association was found between ACTN4 expression and age, tumor size, ER status, PR status, or HER-2 status (all P>0.05). The ROC analysis showed that the area under the curve (AUC) of ACTN4 was 0.887 (95%CI: 0.843-0.931), with sensitivity of 80.5% and specificity of 84.4%, and the cutoff value was 1.050. CONCLUSIONS ACTN4 in serum can serve as a clinical predictor in the diagnosis or prediction of clinical outcomes of patients with BC.
Assuntos
Actinina/sangue , Neoplasias da Mama/sangue , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/sangue , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Estudos de Casos e Controles , Feminino , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Reação em Cadeia da Polimerase em Tempo Real/métodos , Biópsia de Linfonodo Sentinela/métodosRESUMO
BACKGROUND: Several epidemiological studies have previously investigated the association between the TP53 codon 72 polymorphism and oral squamous cell carcinoma (OSCC) susceptibility; however, current results are inconsistent. We therefore performed this meta-analysis to thoroughly investigate any association among Asian patients. METHODS: A comprehensive search of PubMed and Embase databases was performed up to December 2013. We only considered studies consisting of patients diagnosed with OSCC by pathological methods. Statistical analyses were performed using Review Manager (RevMan) 5.2 software and odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association. RESULTS: A total of 11 case-control studies involving 2,298 OSCC patients and 2,111 controls were included. We found no association between the TP53 codon 72 polymorphism and OSCC susceptibility [(OR = 0.77, 95% CI = 0.48-1.22) for Arg vs. Pro; (OR = 0.67, 95% CI = 0.31-1.43) ArgArg vs. ProPro; (OR = 1.14, 95% CI = 0.97-1.35) ArgPro vs. ProPro; (OR = 0.85, 95% CI = 0.53-1.34) (ArgPro + ArgArg) vs. ProPro; or (OR = 0.34, 95% CI = 0.34-1.23) for ArgArg vs. (ProPro + ArgPro)]. However, subgroup analysis demonstrated an association between the TP53 codon 72 polymorphism and human papillomavirus (HPV)-related OSCC patients. Although statistical heterogeneity was detected, there was no evidence of publication bias. CONCLUSIONS: Current results suggest that the TP53 codon 72 polymorphism is not associated with OSCC in Asians without the presence of HPV infection. Further research is necessary to determine if such a relationship exists in HPV-related OSCC patients.
Assuntos
Povo Asiático/genética , Carcinoma de Células Escamosas/genética , Códon , Predisposição Genética para Doença , Neoplasias Bucais/genética , Polimorfismo Genético , Proteína Supressora de Tumor p53/genética , Estudos de Casos e Controles , Humanos , Razão de Chances , Viés de Publicação , RiscoRESUMO
Aim: To analyze the impact of CD32a polymorphism rs1801274 on the occurrence of Kawasaki disease (KD) through the meta-analysis.Methods: The correlation between CD32a polymorphism rs1801274 and the susceptibility to KD was appraised using summarized odds ratios (ORs) with their 95% confidence intervals (95% CIs). Besides, stratification analyses were further implemented on the basis of ethnicity and control source, respectively. Between-study heterogeneity was checked adopting chi-square-based Q test, with p < .05 as significant level. And results from Q test determined which model would be employed for OR calculation, fixed- or random-effects. Sensitivity analysis was accomplished to test the stability of final results. Potential publication bias among included studies was investigated using Begg's funnel plot and Egger's test. If publication bias was significant, its influence on overall estimates would be measured adopting the trim-and-fill method.Results: CD32a polymorphism rs1801274 significantly increased KD risk in total analysis under the comparisons of AA vs. GG, AA + AG vs. GG, AA vs. GG + AG, A vs. G and AG vs. GG (OR = 2.69, 95% CI = 1.39-5.20; OR = 2.00, 95% CI = 1.23-3.26; OR = 1.90, 95% CI = 1.23-2.94; OR = 1.77, 95% CI = 1.34-2.34; OR = 1.53, 95% CI = 1.07-2.19). After stratification analysis by ethnicity, similar tendency was also observed in Caucasian and Asian subgroups under corresponding genetic models. And parallel results were replicated in population-based and other-source subgroups after stratified analysis by control source, under some contrasts.Conclusion: CD32a polymorphism rs1801274 has strong relation to KD onset, and the presence of its A allele could elevate the disease incidence.
Assuntos
Predisposição Genética para Doença/genética , Síndrome de Linfonodos Mucocutâneos/genética , Receptores de IgG/genética , Alelos , Estudos de Associação Genética , Humanos , Razão de Chances , Polimorfismo de Nucleotídeo Único , RiscoRESUMO
Objective: The current study is aimed at exploring the relationship between chronic periodontitis and serotonin transporter (5-HTT) gene polymorphisms (rs6354 and rs12449783) in the Chinese Han population. Methods: This study included a total of 120 patients with chronic periodontitis and 125 healthy control subjects. The 5-HTT gene (rs6354 and rs12449783) was genotyped using oral mucosal tissue with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Linkage disequilibrium was examined using Haploview. Genotype and allele frequencies were compared between the cases and controls using a χ2 test. Results: Genotype distribution of the 5-HTT gene polymorphisms rs6354 and rs12449783 in the control group conformed to Hardy-Weinberg equilibrium. The frequency of the AC genotype, the AC + CC genotype and C allele of the 5-HTT rs6354 polymorphism was higher in cases (P < 0.05) vs. the healthy control. The adjusted odds ratio (OR) was 1.910 (95%CI = 1.049-3.476) for the AC genotype, 2.026 (95%CI = 1.115-3.680) for the AC+CC genotype, and 1.875 for the C allele (95%CI = 1.089-3.228. Such an association was particularly strong in women for the AC genotype (OR = 2.167, 95%CI = 1.034-4.542). The genotype and allele frequencies of rs12449783 did not differ between the cases and controls. Haplotype C-C (rs6354-rs12449783) was also more frequent in the cases (OR = 2.372, 95%CI = 1.154-4.875, P = 0.016). Conclusion: Chronic periodontitis is associated with the 5-HTT gene rs6354 polymorphism, as well as rs6354/rs12449783 interaction.
RESUMO
Objective: Many published studies have investigated the association between CYP17 rs743572 polymorphism and benign prostatic hyperplasia (BPH) susceptibility but have yielded inconsistent results. Hence, we performed this meta-analysis using the multivariate statistic method to address a more precise association. Methods: Case-control or cohort studies with adequate genotype distribution or minor allele frequency (MAF) were identified by searching the PubMed, Embase, and Web of Science databases up to December, 2018. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the association between CYP17 rs743572 polymorphism and BPH susceptibility. Results: Pooled MAFs of 13 studies were 37% in Caucasians and 56% in Orientals, respectively. Pooled results of 8 studies suggested that CYP17 rs743572 was not associated with the BPH susceptibility in the overall population (OR = 0.98, 95% CI: 0.80-1.20 for A2 vs. A1; OR = 0.99, 95% CI: 0.79-1.25 for A1/A2 vs. A1/A1; OR = 0.97, 95% CI: 0.62-1.53 for A2/A2 vs. A1/A1). Sensitivity analysis showed the results were robust. Subgroup analysis based on ethnicity suggested that, in Orientals, A2 allele carriers had a 28% lower risk of developing BPH compared with A1 allele carriers, and the risk of BPH is 47% lower in A2/A2 genotype carriers compared with A1/A1 genotype carriers. No significant association was observed in Caucasians. Conclusion: In conclusion, our study indicates a negative association between CYP17 and BPH in Orientals. However, due to limited sample size, the conclusion should be interpreted with caution.
RESUMO
There are inconsistent data on the association of risk of hepatitis virus infection and hepatitis virus-related diseases with the toll-like receptor 3 (TLR3) gene.Several common polymorphism sites were targeted to assess the risk of HBV infection, HCV infection, and HBV-related diseases.Meta-analysis combining data for 3547 cases and 2797 controls from 8 studies was performed in this study. Pooled ORs were calculated to measure the risk of hepatitis virus infection and hepatitis virus-related diseases. Fixed-effects pooled ORs were calculated using the Mantel-Haenszel method.The TLR3 gene was associated with a significantly increased risk of HBV-related diseases among 1355 patients and 1130 controls ([pooled OR, [95%CI]: 1.30, [1.15-1.48] for dominant; 1.77, [1.35-2.31] for recessive; 1.28 [1.16-1.41] for allele frequency). Subgroup analyses by a polymorphism site indicated an increased risk of HCV infection in relation to the TT/CT genotypes of rs3775291 (1.50 [1.11-2.01]), and a decreased risk ascribed to the T allele (0.20 [0.16-0.25]). We also noted an association between rs3775291 and significantly increased risk of HBV-related diseases (2.23 [1.55-3.21]). No significant inter-study heterogeneity or publication bias was detected in the analyses.These data suggest a likely effect on the risk to infect HCV and develop HBV-related diseases for the TLR3 gene. Large-scale studies with racially diverse populations are required to validate these findings.
Assuntos
Hepatite B/genética , Hepatite C/genética , Receptor 3 Toll-Like/genética , Alelos , Frequência do Gene , Genótipo , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: Inflammation plays a pivotal role in the formation and progression of ischemic stroke. Recently, more and more epidemiological studies have focused on the association between C-reactive protein (CRP) -717A > G and -286C > T > A genetic polymorphisms and ischemic stroke. However, the findings of these researches are not conclusive. METHODS: We performed a meta-analysis to determine whether these two polymorphisms are associated with the risk of ischemic stroke. Eligible studies were identified from the database of PubMed, Medline, Embase, Web of Science, CNKI, Weipu, and Wanfang. We calculated odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the association. RESULTS: Four articles were included in our study, including 1926 cases and 2678 controls for -717A > G polymorphism, 652 cases and 1103 controls for -286C > T > A polymorphism. The results of meta-analysis showed that single nucleotide polymorphism (SNP) -717A > G was not significantly associated with the risk of ischemic stroke (GG vs. AA, OR = 1.12, 95% CI = 0.83-1.50, P = 0.207; GG + GA vs. AA, OR = 1.04, 95% CI = 0.93-1.17, P = 0.533; GG vs. GA + AA, OR = 1.10, 95% CI = 0.82-1.47, P = 0.220). Meta-analysis of SNP - 286C > T > A also demonstrated no statistical evidence of a significant association with the risk of ischemic stroke (AA vs. CC, OR = 0.86, 95% CI = 0.59-1.25, P = 0.348; AA vs. CC, OR = 0.92, 95% CI = 0.80-1.06, P = 0.609; AA vs. CC, OR = 0.89, 95% CI = 0.62-1.30, P = 0.374). CONCLUSIONS: This meta-analysis demonstrated little evidence to support a role of CRP gene -717A > G, -286C > T > A polymorphisms in ischemic stroke predisposition. However, to draw comprehensive and more reliable conclusions, further larger studies are needed to validate the association between CRP gene polymorphisms and ischemic stroke in various ethnic groups.
Assuntos
Proteína C-Reativa/genética , Polimorfismo de Nucleotídeo Único/genética , Acidente Vascular Cerebral/genética , Alelos , Isquemia Encefálica/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Acidente Vascular Cerebral/epidemiologiaRESUMO
OBJECTIVE: To investigate the expression level of TUG1 and one of its transcript variants (n377360) in osteosarcoma cells and assess the role of TUG1 in proliferation and apoptosis in the U2OS cell line. METHODS: TUG1 and n377360 expression levels in patients with osteosarcomas and the U2OS human osteosarcoma cell line were evaluated using real-time quantitative PCR. U2OS cells were transected with TUG1 and n377360 siRNA or non-targeting siRNA. MTS was performed to assess the cell proliferation and flow cytometry was applied to analyze apoptosis. RESULTS: We found significantly higher TUG1 and n377360 expression levels in osteosarcoma tissues compared with matched non-tumorous tissues. In line with this, suppression of TUG1 and n377360 expression by siRNA significantly impaired the cell proliferation potential of osteosarcoma cells. Furthermore, inhibition of TUG1 expression significantly promoted osteosarcoma cell apoptosis. CONCLUSIONS: The overexpression of TUG1 and n377360 in osteosarcoma specimens and the functional role of TUG1 and n377360 regarding cell proliferation and apoptosis in an osteosarcoma cell line provided evidence that the use of TUG1 or n377360 may be a viable but an as yet unexplored therapeutic strategy in tumors that over express these factors.