RESUMO
The aim of this study was to investigate the association between four single nucleotide polymorphisms in NR3C1 (Tth111I, BclI, ER22/23EK, and N363S), which encode the glucocorticoid receptor, and asthma susceptibility in patients from the Henan Province of China. Three hundred and twenty-eight patients with asthma and 60 healthy volunteers were recruited to this study. The target SNPs were genotyped by polymerase chain reaction (PCR)-high resolution melting and PCR-restriction fragment length polymorphism. The frequencies of the AA (8.84%) and GG (30.79%) genotypes of Tth111I were higher, and that of the AG genotype was lower (60.37%), in the asthma patients compared to that seen in healthy controls (5.00, 26.67, and 68.33%, respectively). On the other hand, asthma patients showed higher frequencies of the AA genotype (78.05%) of N363S, and lower frequencies of the AG and GG genotypes (15.55 and 6.40%), compared to healthy volunteers (71.67, 18.33, and 10.00%, respectively). Neither of these differences were found to be statistically significant. Moreover, we observed no significant differences in the genotype or allele frequencies of the BclI and ER22/23EK SNPs between the patient and control groups. In conclusion, SNPs in NR3C1 were not significantly associated with asthma in patients from the Henan Province. Patients showed higher frequencies of the AA and GG genotypes of Tth111I and the AA genotype of the N363S SNP compared to healthy volunteers, although these differences were not significant.
Assuntos
Asma/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Receptores de Glucocorticoides/genética , Adolescente , Adulto , Idoso , Povo Asiático , Asma/patologia , China , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
Numerous studies have evaluated the association between polymorphisms of a disintegrin and metalloproteinase 33 (ADAM33) gene and chronic obstructive pulmonary disease (COPD) risk; however, the results remain conflicting. The aim of this study was to investigate whether ADAM33S2 and -T1 polymorphisms are associated with susceptibility to COPD risk in the Chinese population. Publications addressing the association between ADAM33S2 or T1 polymorphisms and COPD risk were selected from the PubMed, Cochrane Library, Embase, CNKI, and Wanfang databases. Two independent reviewers extracted data from the studies. Statistical analysis was performed using the RevMan 5.0.25 and STATA 11.0 software. Six case-control studies were retrieved, including a total of 1201 COPD patients and 1203 controls. Meta-analysis results showed a significant association between the T1 polymorphism and COPD risk in both dominant model [odds ratio (OR) = 2.54, 95% confidence interval (CI) = 1.40-4.61, P = 0.002] and recessive model (OR = 3.50, 95%CI = 2.11-5.81, P < 0.00001) comparisons. For S2, no significant association was found in any genetic model. This suggests that the T1 polymorphism of ADAM33 would increase the risk of COPD in a Chinese individual, whereas the S2 polymorphism might not be a risk factor for COPD. To further evaluate the gene-to-gene and gene-to-environment interactions on ADAM33 genetic variations and COPD risk, more studies using large sample sizes of patients are needed.
Assuntos
Proteínas ADAM/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , Povo Asiático , Estudos de Casos e Controles , Expressão Gênica , Humanos , Modelos Genéticos , Razão de Chances , Doença Pulmonar Obstrutiva Crônica/etnologia , Doença Pulmonar Obstrutiva Crônica/patologia , Fatores de RiscoRESUMO
OBJECTIVE: To evaluate the overall diagnostic performance of the p16 methylation for diagnosing malignant pleural effusion (MPE). METHODS: All published literature in English and Chinese were reviewed. Sensitivity, specificity, likelihood ratio and diagnostic odds ratio (DOR) were pooled by using random-effects model or fixed-effects model. Summary receiver operating characteristic (SROC) curve was used to evaluate the overall diagnostic value. RESULTS: Six studies were included with a total of 378 cases. The sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR) and DOR of p16 methylation in the diagnosis of MPE were 0.41 [95% confidence interval (CI) 0.35, 0.48], 0.97 [95% CI 0.93, 0.99], 9.57 [95% CI 4.53, 20.20], 0.61 [95% CI 0.45, 0.82] and 19.82 [95% CI 8.35, 47.04], respectively. The area under the curve (AUC) was 0.864. CONCLUSION: Pleural p16 methylation test plays a useful role in the diagnosis of MPE.