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Publications (4)4.76 Total impact

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    ABSTRACT: Spinal muscular atrophy (SMA) is a common and fatal autosomal recessive disorder. Approximately 94% of SMA patients are caused by homozygous deletion of SMN1 gene. SMA carrier screening is recommended considering the high carrier frequency (1 in 35-50) as well as severity of the disease. A prospective population-based cohort study was carried out on 4719 pregnant women from Shanghai region. Copy numbers of SMN1 and SMN2 genes were effectively determined with denaturing high performance liquid chromatography (DHPLC) technique. The method has detected 94% of SMA cases with deletion or conversion of the SMN1 genes. Ninety SMA carriers with only one copy of the SMN1 gene were identified among the 4719 pregnant woman. The carrier rate was 1.9%. Respectively, 1.2% and 0.6% of the carriers were caused by SMN1 gene deletion and SMN1 gene conversion. Through this study, we have determined the frequency of SMA mutation carriers in a population of pregnant women. The result may provide a basis for genetic counseling in order to reduce the rate of SMA affected births.
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 12/2013; 30(6):670-2.
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    ABSTRACT: MicroRNAs (miRNAs) are 21-22 nucleotides regulatory small non-coding RNAs that inhibit gene expression by binding to complementary sequences especially the 3' untranslated region (3'UTR) of mRNA. One miRNA can target many messenger RNAs, leading to a complex metabolic network. Previous studies have shown that miRNA-223 regulates migration and invasion of tumor cells and targets cytoplasmic activation/proliferation-associated protein-1 (Caprin-1). In the present study, we detected the expression of miRNA-223 and Caprin-1 in MCF-7, T-47D and MDA-MB-231 cancer cell lines, and MCF-10A normal breast cell line, and analyzed the role of miRNA-223 in Caprin-1-induced proliferation and invasion of human breast cancer cells. We found that miRNA-223 expression levels are significantly lower in MCF-7, T-47D and MDA-MB-231 cancer cells than in MCF-10A normal breast cells, while Caprin-1 expression is higher in cancer cells than in normal breast cells. The most malignant cancer cell line MDA-MB-231 has the lowest expression of miR-223, but the highest expression of Caprin-1. Further, we found that miR-223 targets the 3'UTR of Caprin-1 miRNA and down-regulates the expression of Caprin-1. We also found that over-expression of Caprin-1 can promote the proliferation and the invasion of breast cancer cells, but miRNA-223 can inhibit the proliferation and the invasion. miRNA-223-induced inhibition can be reversed by ectopic over-expression of Caprin-1. These findings suggest that miR-223 may suppress the proliferation and invasion of cancer cells by directly targeting Caprin-1. Our study also indicates that expression levels of miR-223 and Caprin-1 can be used to predict the state of cancer in breast cancer patient.
    Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 07/2013; · 2.24 Impact Factor
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    ABSTRACT: Breast cancer is a highly malignant disease in women. A convenient screening tool with high accuracy for early detection, not only in high-risk individuals but in the general population, is necessary. Two hundred breast cancer patients, 100 healthy controls and 100 hyperplasia patients were enrolled in this study. Samples were randomly assigned into training or testing cohorts. The receiver operating characteristic curve was used to explore the optimal concentration of cell-free DNA (GAPDH) in the training cohort and the cut-off point was validated in the testing cohort. The results showed that both in the training and testing cohorts, the overall accuracy of classification between cancer, healthy controls and hyperplasia was higher than 0.9. The sensitivity, specificity, positive predictive value and negative predictive value also reached 0.9, with the exception of the negative predictive value in the testing cohort. This study provides useful information on the use of concentration of free DNA for breast cancer detection. These findings need to be validated in a large prospective trial prior to clinical application.
    Oncology letters 04/2012; 3(4):897-900. · 0.24 Impact Factor
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    ABSTRACT: Potassium inwardly rectifying channel, subfamily-J, member 11 (KCNJ11) gene encodes Kir6.2 subunits of the adenosine triphosphate (ATP)-sensitive potassium channel involved in glucose-mediated metabolic signaling pathway and has attracted considerable attention as a candidate gene for type 2 diabetes (T2D) based on its function in glucose-stimulated insulin secretion. In the past decade, a number of case-control studies have been conducted to investigate the relationship between the KCNJ11 polymorphisms and T2D. However, these studies have yielded contradictory results. To investigate this inconsistency and derive a more precise estimation of the relationship, we conducted a comprehensive meta-analysis of 64,403 cases and 122,945 controls from 49 published studies. Using the random-effects model, we found a significant association between E23K (rs5219) polymorphism and T2D risk with per-allele odds ratio of 1.13 (95% confidence interval: 1.10-1.15; p<10(-5)). Significant results were found in East Asians and Caucasians when stratified by ethnicity; whereas no significant associations were found among South Asians and other ethnic populations. In subgroup analysis by sample size, mean age and body mass index (BMI) of cases, mean BMI of controls and diagnostic criterion, significantly increased risks were found in all genetic models. This meta-analysis suggests that the E23K polymorphism in KCNJ11 is associated with elevated T2D risk, but these associations vary in different ethnic populations.
    DNA and cell biology 11/2011; 31(5):801-10. · 2.28 Impact Factor