A meta-analysis was performed to assess the association of the human leukocyte antigen-G (HLA-G) 14 bp insertion (ins)/deletion (del) polymorphism with unexplained recurrent spontaneous abortions (URSA). The fixed or random effect pooled measure was selected based on the homogeneity test among studies that was evaluated with I². Odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of the association. In this meta-analysis, 14 studies with 1464 cases and 1247 controls corresponded to the inclusion criteria were included. Significant associations between 14 bp ins/del polymorphism and risk of URSA were observed in both dominant [random effect model (REM) OR = 1.469, 95% CI = 1.127-1.914] and codominant (REM OR = 1.195, 95% CI = 1.005-1.420) models. After excluding two articles that deviated from Hardy-Weinberg equilibrium in cases and sensitivity analysis, significant associations were also observed in dominant [fixed effect model (FEM) OR = 1.224, 95% CI = 1.020-1.470] and codominant (FEM OR = 1.158, 95% CI = 1.028-1.305) models. This meta-analysis suggests that the 14 bp ins HLA-G allele is associated with increased risk of URSA. The results are of importance to the clinical practice of URSA and infertility.
The involvement of S100A4 in modulating invasiveness of esophageal squamous cell carcinoma (ESCC) cell lines was explored. It was shown that S100A4 expression is positively correlated with the degree of invasiveness in human ESCC cells. The S100A4-rich EC-1 cells displayed higher migratory and invasive cell behavior while ET-1 cells with low S100A4 expression levels displayed lower migratory and invasive cell behavior. S100A4 silencing by small interfering (siRNA) in EC-1 cells induced E-cadherin expression, and overexpression of S100A4 in a lowly invasive TE-1 cells suppressed E-cadherin expression. It is suggested that S100A4 silencing inhibit invasion via E-cadherin upregulation, and overexpression of S100A4 promote invasion via E-cadherin downregulation in ESCC cells. Compared with the vector-transfected cells, S100A4 silencing in EC-1 cells showed reduced ability of migration and invasiveness, and overexpression of S100A4 in TE-1 cells showed increased ability of migration and invasiveness via wound-healing and Transwell assay, and pseudometastatic model assay. Furthermore, re-expression of S100A4 could increase the invasive phenotypes in S100A4 siRNA transfected EC-1 cells, and S100A4 silencing could decrease the invasive phenotypes in S100A4 circular DNA (cDNA) transfected TE-1 cells. It was found that Slug is downregulated in S100A4 siRNA transfected EC-1 cells, and Slug is upregulated in S100A4 cDNA transfected TE-1 cells. It was also discovered S100A4 cDNA induced protein kinase B (AKT) phosphorylation at Serine-473(phospho-AKT [p-AKT]) levels, followed by the Slug upregulation, and S100A4 siRNA decreases the phospho-AKT levels, followed by the Slug downregulation. The data suggested that S100A4 could regulate migratory and invasive behavior of human ESCC cells through modulating AKT/Slug pathway.
Betatrophin is a recently identified protein that has been shown to be associated with lipid metabolism and insulin resistance. This study aimed to measure serum betatrophin concentrations in patients with type 2 diabetes (T2DM) and evaluate the association of betatrophin with diabetic retinopthy (DR). Serum betatrophin concentrations were compared between (1) gender-, age- and body mass index-matched T2DM patients with (n=17) or without (n=33) DR; (2) gender-, age-, and body mass index-matched healthy subjects (n=31), newly-diagnosed T2DM patients before treatment (n=24), and T2DM patients under antidiabetic treatment (n=35). Serum betatrophin concentrations were determined by the enzyme-linked immunosorbent assay. Multivariate logistic regression was performed to assess the association between betatrophin concentration and DR. Serum betatrophin concentration was significantly associated with DR in T2DM patients under treatment (Odds Ratio 2.01; 95% Confidence Interval 1.12-3.60; p=0.019). Betatrophin concentrations were significantly increased in treated T2DM patients compared to the healthy subjects (4.17±0.60 vs. 0.54±0.07 ng/ml; p<0.001). Serum betatrophin concentrations are increased in T2DM patients under antidiabetic treatment and positively associated with diabetic retinopathy.
Aims/hypothesis The common genetic and environmental effects on endophenotypes related to the metabolic syndrome have been investigated using bivariate and multivariate twin models. This paper extends the pairwise analysis approach by introducing independent and common pathway models to Chinese twin data. The aim was to explore the common genetic architecture in the development of these phenotypes in the Chinese population.Methods Three multivariate models including the full saturated Cholesky decomposition model, the common factor independent pathway model and the common factor common pathway model were fitted to 695 pairs of Chinese twins representing six phenotypes including BMI, total cholesterol, total triacylglycerol, fasting glucose, HDL and LDL. Performances of the nested models were compared with that of the full Cholesky model. Results Cross-phenotype correlation coefficients gave clear indication of common genetic or environmental backgrounds in the phenotypes. Decomposition of phenotypic correlation by the Cholesky model revealed that the observed phenotypic correlation among lipid phenotypes had genetic and unique environmental backgrounds. Both pathway models suggest a common genetic architecture for lipid phenotypes, which is distinct from that of the nonlipid phenotypes. The declining performance with model restriction indicates biological heterogeneity in development among some of these phenotypes. Conclusions/interpretation Our multivariate analyses revealed common genetic and environmental backgrounds for the studied lipid phenotypes in Chinese twins. Model performance showed that physiologically distinct endophenotypes may follow different genetic regulations.
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