ABSTRACT
Acute coronary syndrome (ACS) is a complex multifactorial and polygenic disorder that is thought to result from the interaction between an individual's genetic makeup and various environmental factors. The aim of this study was to investigate the association of a transforming growth factor-ß1 (TGF-ß1) polymorphism (-509C>T) with ACS in a Chinese Han population. The TGF-ß1 polymorphism was evaluated in 336 patients with ACS and 396 healthy control subjects by polymerase chain reaction-restriction fragment length polymorphism. The genotype distributions of the control and ACS groups were in Hardy-Weinberg equilibrium (X(2) = 3.54 and X(2) = 1.72, respectively, P > 0.05). The frequencies of the CC, CT, and TT genotypes were 22.61, 53.57, and 20.83% in the ACS group, respectively, whereas they were 8.33, 48.74, and 42.17% in controls. There were significant differences between controls and ACS patients in the frequencies of the CC genotype and the C allele. These results suggest that the promoter polymorphism (-509C>T) in TGF-ß1 is associated with ACS in this population. The CC genotype and the C allele of TGF-ß1 might be a specific risk factor of ACS in the Chinese Han population in Xinjiang.
Subject(s)
Acute Coronary Syndrome/genetics , Genetic Association Studies , Polymorphism, Genetic , Transforming Growth Factor beta1/genetics , Acute Coronary Syndrome/diagnosis , Alleles , Asian People/genetics , Case-Control Studies , China , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Promoter Regions, Genetic , Risk FactorsABSTRACT
This study was designed to estimate the prevalence of diabetes and impaired fasting glucose (IFG) in Xinjiang children in western China. Data were obtained from the Chun-Miao Project, a community-based, cross-sectional study designed to investigate the prevalence and risk factors of diabetes in children of the Chinese Uygur population in Xinjiang from February 2010 to May 2012. A total of 3644 children completed the survey and measurements of fasting glucose. Diabetes and IFG were defined using American Diabetes Association 2009 criteria. Overall, 0.7% of the 3644 Uygur children had IFG and 0.1% had diabetes. In the newborn to 8-year-old group, the prevalence of diabetes and IFG was 0.6 and 1.1%, respectively. In the 9-13-year-old group, the prevalence of diabetes and IFG was 0.1 and 0.7%, respectively. There was no evidence of IFG or diabetes in the 14-17-year-old group. Logistic regression analysis suggested that overweight and obesity were independent risk factors of diabetes in Uygur children of Xinjiang. The prevalence of diabetes and IFG in Uygur children was lower than that reported previously in children of other ethnicities in China.
Subject(s)
Blood Glucose , Diabetes Mellitus/blood , Diabetes Mellitus/epidemiology , Adolescent , Child , Child, Preschool , China/epidemiology , China/ethnology , Cross-Sectional Studies , Ethnicity , Fasting , Female , Humans , Infant , Infant, Newborn , Male , Prevalence , Public Health Surveillance , Risk FactorsABSTRACT
Extracellular signal-regulated kinase (ERK1/2) is one of the mitogen-activated protein kinases, key components of the reperfusion injury salvage kinase pathway, which plays an important role in protecting the myocardium from lethal ischemia-reperfusion injury. Constitutive activation of the mitogen-activated protein kinase kinase 1 (CaMEK) can promote ERK1/2 expression, which is thereby expected to exert protective action on the heart against ischemia-reperfusion injury. The adeno-associated virus serotype 9 vector (AVV9) is a novel tool for gene therapies targeting human diseases owing to its nonpathogenic capability for transducing nondividing cells and its long-term transgene expression. We used a recombinant AAV9 vector to deliver the CaMEK gene into cardiomyocytes and assessed whether AAV9 vector-mediated CaMEK gene transfection could enhance the long-term expression and activity of ERK1/2. Our observations suggest that AAV9-mediated gene expression is preferentially restricted to cardiomyocytes and that mediated CaMEK gene transfection enhanced the expression of ERK1/2 phosphorylation and consequently upregulated the expression of downstream components of ERK1/2 and its transcription factors.
Subject(s)
Dependovirus/genetics , MAP Kinase Kinase 1/genetics , MAP Kinase Signaling System , Myocytes, Cardiac/metabolism , Animals , Cells, Cultured , Gene Expression , Genetic Therapy , Genetic Vectors , Green Fluorescent Proteins/biosynthesis , Green Fluorescent Proteins/genetics , MAP Kinase Kinase 1/metabolism , Phosphorylation , Primary Cell Culture , Protein Processing, Post-Translational , Rats , Rats, Sprague-Dawley , Transcription Factors/metabolism , Transduction, GeneticABSTRACT
C5L2, a G protein-coupled receptor, is known to be a functional receptor of acylation-stimulating protein, which is a stimulator of triglyceride synthesis and glucose transport. A novel C5L2 variant (S323I) was identified and its association with familial combined hyperlipidemia (FCH) was recently reported. We looked for this SNP in three Chinese ethnic groups, including Han, Uygur, and Kazakh controls and patients with FCH and type 2 diabetes. One hundred and eighty-two unrelated subjects (77 of Han, 57 of Uygur, and 48 of Kazakh) with FCH were genotyped by direct sequencing, and 852 subjects (342 of Han, 338 of Uygur, 172 of Kazakh) with type 2 diabetes and 200 healthy controls (67 of Han, 72 of Uygur, and 61 of Kazakh) chosen from a cardiovascular risk survey study were genotyped with PCR-RFLP analysis. All 182 subjects with FCH, 99.5% of the type 2 diabetes patients and 100% of the healthy controls were successfully genotyped. Neither the FCH subjects nor the type 2 diabetes patients were found to have the S323I variant. This variant was also not identified in the healthy controls. We found no evidence to demonstrate that the S323I polymorphism contributes to familial combined hyperlipidemia or type 2 diabetes in the Chinese population.