Exome Sequencing in a Family Identifies RECQL5 Mutation Resulting in Early Myocardial Infarction.

Coronary artery disease (CAD) including myocardial infarction (MI) is the leading cause of death worldwide and is commonly caused by the interaction between genetic factors and environmental risks. Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology for the majority of families with a multigenerational early CAD /MI predisposition is unknown.In this study, we used whole-exome sequencing of 10 individuals from 1 early MI family, in which 4 siblings were diagnosed with MI before the age of 55, to identify potential predisposing genes.

Factors associated with diet barriers in patients with poorly controlled type 2 diabetes.

Background: The study was conducted to investigate the diet barriers perceived by patients with poorly controlled type 2 diabetes and examine the associations between diet barriers and sociodemographic characteristics, medical condition, and patient-centered variables.

Methods: Secondary subgroup analyses were conducted based on the responses of 246 adults with poorly controlled type 2 diabetes from a multicenter, cross-sectional study. Diet barriers were captured by the Diet Barriers subscale of the Personal Diabetes Questionnaire.

MIF Gene Polymorphism rs755622 Is Associated With Coronary Artery Disease and Severity of Coronary Lesions in a Chinese Kazakh Population: A Case-Control Study.

Inflammation plays an important role in the pathogenesis of atherosclerosis. Recent studies indicate that macrophage migration inhibitory factor (MIF) is a potent proinflammatory cytokine which mediates the inflammatory process during atherosclerosis. The polymorphism of MIF gene (rs755622 [-173G/C], rs1007888, and rs2096525) were genotyped by TaqMan single nucleotide polymorphism (SNP) genotyping assay in 320 patients with coronary artery disease (CAD) and 603 controls in a Chinese Kazakh population.

Association between Apolipoprotein C-III Gene Polymorphisms and Coronary Heart Disease: A Meta-analysis.

Polymorphisms in the apolipoprotein C-III (APOC3) gene have been reported to be associated with coronary heart disease (CHD), but the data so far have been conflicting. To derive a more precise estimation of these associations, we performed a meta-analysis to investigate the three main polymorphisms (SstI, T-455C, C-482T) of APOC3 in all published studies. Databases including PubMed, Web of Science, Wanfang, SinoMed and CNKI were systematically searched.

Association Between the NFKB1-94ins/del ATTG Polymorphism (rs28362491) and Coronary Artery Disease: A Systematic Review and Meta-Analysis.

Background: Inflammation plays an important role in the pathophysiology of coronary artery disease (CAD). NF-κB is a central regulator of inflammation. Thus the aim of this study was to conduct a systematic review and meta-analysis investigating whether the polymorphism in the NFKB1 promoter region (NFKB1-94ins(I)/del(D)ATTG, rs28362491) is associated with CAD susceptibility.

Prognostic value of long noncoding RNA MALAT1 in digestive system malignancies.

Background: MALAT1, a newly discovered long noncoding RNA (lncRNA), has been reported to be highly expressed in many types of cancers. This meta-analysis summarizes its potential prognostic value in digestive system malignancies.

Methods: A quantitative meta-analysis was performed through a systematic search in PubMed, Cochrane Library, Web of Science and Chinese National Knowledge Infrastructure (CNKI) for eligible papers on the prognostic impact of MALAT1 in digestive system malignancies from inception to Apr.

Prevalence of Isolated Diastolic Hypertension and Associated Risk Factors among Different Ethnicity Groups in Xinjiang, China.

Objectives: Little is known about isolated diastolic hypertension (IDH) among different ethnicity groups. We aimed to investigate the prevalence and risk factors for IDH among the major ethnicity population i.e.

Association between ErbB3 genetic polymorphisms and coronary artery disease in the Han and Uyghur populations of China.

Background: ErbB3 is a member of the epidermal growth factor receptor (EGFR/ERBB) family of receptor tyrosine kinases. Recent research has shown that amplification of this gene is related to prostate, bladder and breast cancers, as well as low-density lipoprotein cholesterol (LDL-C) metabolism. LDL-C plays a considerable role in the development of cardiovascular disease.

Relationship between CYP17A1 Genetic Polymorphism and Essential Hypertension in a Chinese Population.

The relationship between CYP17A1 genetic polymorphisms and essential hypertension (EH) remains unclear. The aim of this study was to investigate the association of CYP17A1 genetic polymorphisms with EH in Han and Uighur populations in China. A Han population including 558 people (270 EH patients and 288 controls) and a Uighur population including 473 people (181 EH patients and 292 controls) were selected.

Inhibition of the NF-κB pathway by R65 ribozyme gene via adeno-associated virus serotype 9 ameliorated oxidized LDL induced human umbilical vein endothelial cell injury.

Objective: NF-κB signaling plays a central role in the regulation of inflammatory responses in atherosclerosis. R65 ribozyme gene suppresses activation of NF-κB pathway, therefore we studied whether R65 gene therapy can ameliorate oxidized low-density lipoprotein (ox-LDL) induced human umbilical vein endothelial cells (HUVECs) injury.

Methods And Results: Recombinant adeno-associated virus serotype 9 (rAVV9) vector was used to transfect the R65 ribozyme gene (rAVV9-R65) into HUVECs then following ox-LDL stimulation, expression of NF-κB p65 and p50 subunits, inflammatory mediators and cell apoptosis were examined.

Reversal of Chemoresistance in Human Lung Cancer Cell Line A549/Taxol by Synthetic Second Mitochondria-Derived Activator of Caspase Peptide.

Background: Chemoresistance is a leading cause of treatment failure in advanced lung cancer, including that with the extensively prescribed taxol. Recently, a series of structurally unique second mitochondria-derived activators of caspase (Smac) that act as antagonists of inhibitor of apoptosis proteins (IAPs) have been discovered, exhibiting the ability of inducing enhanced apoptosis of various cancer cell types when combined with chemotherapy. In the present study, we synthesized the second mitochondria-derived activator of caspase peptide (Smac-N7 for short) and explored its capacity in combination with taxol in vitro.

Relationships between genetic polymorphisms of E670G in PCSK9 gene and coronary artery disease: a meta-analysis.

Objective: Proprotein convertase subtilisin-like kexin type 9 (PCSK9) gene E670G Polymorphism has been reported to be associated with coronary artery disease (CAD) and risk factors. However, the results remain controversial. We sought to perform a meta-analysis to investigate the relationships between genetic polymorphisms of E670G in PCSK9 gene and the risk of CAD.

Association between apolipoprotein B gene polymorphisms and the risk of coronary heart disease (CHD): an update meta-analysis.

Objective: Polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with coronary heart disease (CHD). However, the results on this topic are conflicting. The present study aims to derive a more precise estimation of the relationship between CHD and apoB genetic polymorphisms by meta-analysis.

Subclinical atherosclerosis in patients with systemic lupus erythematosus: A systemic review and meta-analysis.

Objective: Systemic lupus erythematosus (SLE) is associated with increased risk of cardiovascular disease. Carotid intima media thickness (CIMT) and carotid plaques are both frequently used to identify populations at higher cardiovascular risk. A systematic literature search and meta-analysis were performed to evaluate CIMT and carotid plaques difference between SLE patients and normal controls.

Plasma/Serum Leptin Levels in Patients with Systemic Lupus Erythematosus: A Meta-analysis.

Background And Aims: Currently published data regarding the relationship between plasma/serum leptin levels and systemic lupus erythematosus (SLE) are contradictory. To derive a more precise evaluation of this relationship, a meta-analysis was performed.

Methods: Published literature from PubMed, Embase and Cochrane Library were obtained.

The association of cholesterol absorption gene Numb polymorphism with Coronary Artery Disease among Han Chinese and Uighur Chinese in Xinjiang, China.

Background: Hypercholesterolemia is a major risk factor for coronary artery disease (CAD). As Numb is an important regulating factor for intestinal cholesterol absorption and plasma cholesterol level, the aim of the present study is to assess the association between human Numb gene polymorphism and CAD among Han and Uighur Chinese.

Methods: We have conducted two independent case-control studies in Han Chinese (384 CAD patients and 433 controls) and Uighur Chinese (506 CAD patients and 351 controls) subjects.

Prevalence of Congenital Heart Disease in Xinjiang Multi-Ethnic Region of China.

Background: The prevalence and risk factors of congenital heart disease among Xinjiang, northwestern part of China is currently unknown.

Methods: This multiple-ethnic, community-based, cross-sectional study was conducted to estimate the prevalence and distribution of congenital heart disease (CHD) in Xinjiang, northwestern part of China. Four major ethnics, Uygur, Han, Kazak, and Hui children in this region were investigated during February 2010 and May 2012.

Total glucosides of paeony can reduce the hepatotoxicity caused by Methotrexate and Leflunomide combination treatment of active rheumatoid arthritis.

Objective: Total glucosides of paeony (TGP) have been confirmed to exert anti-inflammatory and hepatoprotective effects. Methotrexate (MTX) and Leflunomide (LEF) combination has a better efficacy in the treatment of active rheumatoid arthritis (RA), but hepatotoxicity was observed. In this study, we investigated the effect of TGP on hepatic dysfunction caused by MTX and LEF in patients with active RA.

FrzA gene protects cardiomyocytes from H2O2-induced oxidative stress through restraining the Wnt/Frizzled pathway.

Background: Lately, there is accumulating evidence that the Wnt/Frizzled pathway is reactivated after myocardial infarction, the inhibition of the pathway is beneficial since it reduce of myocardial apoptosis and prevents heart failure. FrzA/Sfrp-1, a secreted frizzled-related protein and antagonist for the wnt/frizzled pathway. We assessed the hypothesis that FrzA protects cardiomyocytes from H2O2-Induced Oxidative damage through the inhibition of Wnt/Frizzled pathway activity.

Genetic variants of numb gene were associated with elevated total cholesterol level and low density lipoprotein cholesterol level in Chinese subjects, in Xinjiang, China.

Background: Hypercholesterolemia is one of the most common risk factors for Coronary Artery Disease (CAD), which is the leading cause of death worldwide. As Numb is an important regulating factor regarding intestinal cholesterol absorption and plasma cholesterol level, the aim of the present study is to investigate the relationship between human Numb gene polymorphism and cholesterol level in Chinese subjects.

Methods: All participants came from the First Affiliated Hospital of Xinjiang Medical University (Male: 1052 and Female: 596), and four tagging SNPs (rs2108552, rs12435797, rs1019075 and rs17781919) of Numb gene were genotyped by using TaqMan assays and analyzed in an ABI 7900HT Fast Real-Time PCR System.

Association of mean platelet volume with impaired myocardial reperfusion and short-term mortality in patients with ST-segment elevation myocardial infarction undergoing primary percutaneous coronary intervention.

Impaired myocardial reperfusion, defined angiographically by myocardial blush grade (MBG) 0 or 1, is associated with adverse clinical outcomes in patients with ST-segment elevation myocardial infarction (STEMI). The aim of this study was to investigate the impact of admission mean platelet volume (MPV) on the myocardial reperfusion and 30-day all-cause mortality in patients with STEMI with successful epicardial reperfusion after primary percutaneous coronary intervention (PCI). A total of 453 patients with STEMI who underwent primary PCI within 12 h of symptoms onset and achieved thrombolysis in myocardial infarction (TIMI) 3 flow at infarct-related artery after PCI were enrolled and divided into two groups based on postinterventional MBG: those with MBG 2/3 and those with MBG 0/1.

Long noncoding RNA MALAT1 as a putative biomarker of lymph node metastasis: a meta-analysis.

Recent studies in cancer have demonstrated that cancerous tissues have a significantly higher MALAT1 level than in noncancerous tissues. Overexpression of MALAT1 is associated with susceptibility to lymph node metastasis. This meta-analysis collected all relevant articles and explored the association of MALAT1 expression levels with lymph node metastasis in patients with carcinoma.

Effect of Second mitochondria-derived activator of caspase in combination with Docetaxel on lung cancer cell A549.

This study was to investigate inhibiting effect of structurally unique Second mitochondria-derived activator of caspase (Smac) in combination with Docetaxel on lung cancer cell line A549. Results showed that the expression of Smac in transfected A549 cells was higher than the control cells both at mRNA level and protein level (P<0.05).

Association of COX-2 -765G>C genetic polymorphism with coronary artery disease: a meta-analysis.

Background: Previous studies suggested the single nucleotide polymorphism (SNP) of COX-2 -765G>C (rs20417) is associated with coronary artery disease (CAD), but the results were conflicting. In order to derive a more precise estimation of the associations, we performed a meta-analysis of the relationship between rs20417 and CAD in all published studies.

Method: Databases including PubMed, Web of Science, Wanfang, SinoMed and CNKI were systematically searched.

Targeting transgene to the heart and liver with AAV9 by different promoters.

Adeno-associated virus (AAV) has become one of the most promising gene transfer tools for gene therapy. This work aims to evaluate tropism, gene transfer efficiency and safety of AAV9 vectors produced with recombinant baculovirus (rBac)-based system. AAV9-CMV-GFP and AAV9-CBA-GFP were produced using a rBac system, 1 × 10(11) particles of each vectors were administered intravenously (i.