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Tang K.,General Hospital of Peoples Liberation Army | Wang W.,General Hospital of Beijing Command of PLA | Wang Q.,General Hospital of Peoples Liberation Army | Wang L.,General Hospital of Peoples Liberation Army | And 3 more authors.
International Journal of Clinical and Experimental Pathology

Objective: To investigate whether haplotypes of rhodopsin (RHO) polymorphisms including rs7984, rs2855552, rs2855557 and rs2410 were associated with age-related macular degeneration (AMD) risk in Chinese Han population. Methods: Genotypes of rs7984, rs2855552, rs2855557 and rs2410 were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 186 cases and 196 healthy controls. Then, the haplotypes were established with Haploview 4.2 software. And the effects of clinical charactersitics on the frequency of GTTG haplotype were also analyzed. Odds ratios (ORs) with 95% confidence interval (95% CI) were utilized to assess the relationship of haplotypes and genotypes of RHO polymorphisms with susceptibility to AMD. Results: Genotype distribution of all polymorphisms in control group were all in agreement with Hardy-Weinberg equilibrium (HWE) (P>0.05). In the analysis, we found that mutant alleles of rs7984 and rs2855557 were both associated with increased risk of AMD. For genotype analysis, rs7984 AA and rs2855557AA, rs2410GG genotypes all could increase the risk for AMD (OR=1.905, 95% CI=1.143-3.174; OR=2.226, 95% CI=1.261-3.932; OR=2.073, 95% CI=1.105-3.888). However, rs2855552 showed no effects on the onset of AMD. Compared with GTTA, the haplotypes of GGTG, ATAA and GTTG were all related with AMD susceptibility. Further analysis suggested that age, hypertension and hyperlipidemia history play important roles in the frequency alteration of GTTG haplotype. Conclusion: RHO polymorphisms (rs7984, rs2855557 and rs2410) and haplotypes may confer remarkable susceptibility to AMD. Further investigation showed that gene and environmental factors may work together in the pathogenesis of AMD. Source

Yin Q.-S.,General Hospital of Beijing Command of PLA | Shi B.,General Hospital of Beijing Command of PLA | Dong L.,General Hospital of Beijing Command of PLA | Bi L.,General Hospital of Beijing Command of PLA
Journal of Geriatric Cardiology

Background: Heart failure (HF) is a common disease with complex pathophysiological causes. The diagnosis of HF commonly relies on comprehensive analyses of medical history and symptoms, and results from echocardiography and biochemical tests. Galectin-3, a relatively new biomarker in HF, was approved by the US Food and Drug Administration in 2010 as a marker in the stratification of risk for HF. We assessed galectin-3 as a biomarker for HF diagnosis in patients with preserved ejection fraction (pEF) and compared its performance with that of B-type natriuretic peptide (BNP). Methods: Thirty-five pEF patients with HF (HFpEF group) and 43 pEF patients without HF (control group) were enrolled. Plasma levels of galectin-3 and BNP in HFpEF and control subjects were determined. Sensitivity, specificity, predictive values, and accuracy of galectin-3 and BNP as markers for HF diagnosis were calculated and compared. Results: Levels of galectin-3 and BNP were 23.09 ± 6.97 ng/mL and 270.46 ± 330.41 pg/mL in the HFpEF group, and 16.74 ± 2.75 ng/mL and 59.94 ± 29.93 pg/mL in the control group, respectively. Differences in levels of galectin-3 and BNP between the two groups were significant (P < 0.01). As a biomarker for HF diagnosis in study subjects, galectin-3 showed sensitivity and specificity of 94.3% and 65.1%, respectively, at a cutoff value of 17.8 ng/mL. BNP showed sensitivity and specificity of 77.1% and 90.7%, respectively, at a cutoff value of 100 pg/mL. Galectin-3 was a significantly more sensitive (P < 0.05) but less specific (P < 0.01) biomarker compared with BNP. Differences in positive predictive value, negative predictive value, and accuracy between galectin-3 and BNP markers were not significant (P > 0.05). Areas under the receiver operating characteristic curve (95% confidence interval) were 0.891 (0.808-0.974) and 0.896 (0.809-0.984) for galectin-3 and BNP, respectively, with no significant difference between the two values (P > 0.05). Conclusions: The level of galectin-3 is significantly elevated in patients with HF. Galectin-3 and BNP are useful biomarkers for the diagnosis of HF in patients with pEF. ©2014 JGC All rights reserved. Source

Bai H.,Chinese PLA General Hospital | Liu H.,General Hospital of Beijing Command of PLA | Wang J.,General Hospital of Beijing Command of PLA | Ling G.,Chinese PLA General Hospital | Huang Y.,Chinese PLA General Hospital
International Journal of Clinical and Experimental Medicine

Background: Epidemiological studies provide evidence of a genetic basis for primary angle closure glaucoma (PACG), and genome-wide association studies (GWAS) have identified various candidate genes as susceptibility loci. However, different results produced by previous studies make the role of a common genetic variant in the COL11A1 gene (rs3753841) remains elusive. Thus, we carried out a meta-analysis, attempting to determine the association of rs3753841 with PACG. Methods: Potentially relevant studies were identified by systematical computer-based searches. Selection of eligible studies was undertaken by two investigators according to inclusion criteria. The DerSimonian and Laird’s method was performed to estimate pooled odds ratios (risk of PACG) under distinct genetic models. Heterogeneity was measured using the chi-square-based Q statistic test and I2 metric. Results: We found a significant association of COL11A1 rs3753841 with PACG among 26,365 subjects (5,594 cases and 20,771 controls) with Asian or Caucasian ancestry derived from a total of 15 studies. The association was more pronounced in individuals with the GG genotype (GG vs AA: odds ratio 1.26, 95% confidence interval 1.13-1.41; GG vs GA + AA: odds ratio 1.24, 95% confidence interval 1.12-1.38). In the stratified analyses, the statistical significance was retailed in Asians and the studies without Hardy-Weinberg equilibrium. Conclusion: Our meta-analysis including the large-scale study suggest that COL11A1 variant rs3753841 may confer higher susceptibility to PACG and provide additional insight into the mechanisms that underlie this most common subtype of glaucoma. © 2015, E-Century Publishing Corporation. All rights reserved. Source

Jia Z.,General Hospital of Beijing Command of PLA | Wang L.,General Hospital of Beijing Command of PLA | Liu C.,General Hospital of Beijing Command of PLA | Yu Z.,General Hospital of Beijing Command of PLA | And 2 more authors.
Wspolczesna Onkologia

Aim of the study: Hepatocellular carcinoma (HCC) is common throughout the world. Most HCCs are diagnosed at an advanced stage. There is an urgent need to find new methods for screening and surveillance of individuals at risk for HCC. The aim of this study was to evaluate serum α-fetoprotein (AFP)-L3 and serum Golgi protein 73 (GP73) detection in diagnosis of HCC with different AFP concentration. Material and methods: One hundred and eighty one patients were involved, including 102 with HCC and 79 with benign liver disease. The serum AFP-L3 and GP73 was measured by a liquid-phase binding assay and quantitative enzyme-linked immunosorbent assay, respectively. Results: Of the 102 HCC patients, 53 were positive for AFP, 77 were positive for AFP-L3, and 79 were positive for GP73. The maximum area under the curve for AFP-L3% and for GP73 was significantly different from the AUC of 0.5525 for total AFP (p < 0.01). AFP-L3% was not detected for AFP < 20 ng/ml. However, elevated GP73 was detected in 87.50% of the patients. In the HCC patients with total AFP 20-400 ng/ml, elevated AFP-L3 was detected in 26 patients, whereas in 23 patients elevated GP73 could be detected. In the HCC patients with a total AFP > 400 ng/ml, AFP-L3% > 10% was present in 96.23%, and GP73 was detected in 87.50%. Conclusions: The determination of AFP-L3% and GP73 in combination with AFP can increase the sensitivity and specificity in diagnosis of HCC. α-fetoprotein-L3% and GP73, in combination with AFP, are useful biomarkers to confirm the diagnosis of HCC. Source

Xu J.-F.,General Hospital of Beijing Command of PLA | Yan C.-X.,General Hospital of Beijing Command of PLA | Yang Y.-G.,General Hospital of Beijing Command of PLA | Xu Q.,General Hospital of Beijing Command of PLA | And 3 more authors.
Chinese Journal of New Drugs

Objective: To determine the effect of genetic polymorphisms of the metabolic enzyme UGT on individual differences of mitiglinide pharmacokinetic (PK) in Chinese, and provide a basis for the clinical rational usage of the drug. Methods: Health volunteers took single and multiple oral doses of mitiglinide. HPLC-MS was used to detect blood concentration of mitiglinide, pyrosequencing was used to detect the SNPs of UGT1A3 and UGT2B7. Then, the pharmacokinetic parameters were acquired respectively, and the volunteers were divided into groups according to the different genotypes. The PK parameters between groups (or among groups) were compared using ANOVA or two independent-samples t test; P<0.05 was considered statistically significant. Results: From the values of plasma mitiglinide concentrations and PK parameters (AUC, C max, CL), there were great individual differences in PK. The differences did not relate to UGT1A3 and UGT2B7 genetic polymorphisms as analyzed by statistical analysis for single oral dose of mitiglinide, but relate to UGT1A3 and UGT2B7 genetic polymorphisms for multiple doses. The order of enzymes activities to metabolize mitiglinide was UGT1A3*2/*4>UGT1A3*1/ *3>UGT1A3*1/*1>UGT1A3*1 /*2>UGT1A3*1/*5, and the genetic polymorphism of UGT2B7-1 was T/T>G/T>G/G. Conclusion: The genetic polymorphisms of phase II metabolic enzymes, UGT1A3 and UGT2B7-1 but not UGT2B7-2, impact individual PK difference of mitiglinide. Source

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