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Objective To investigate the association of rs579459 polymorphism in ABO gene with clinical severity of coronary heart disease (CHD) in Chinese Han population. Methods Based on the results of study on the association with CHD conducted by our team ,the rs579459 polymorphism in ABO gene and clinical data of 515 Chinese Han patients with CHD and 908 healthy individuals were collected and analyzed with Plink 1.07 software. Results The rs579459 polymorphism in ABO gene using allele model showed a statistically significant difference between CHD and control group (OR :1.28 ,95％ CI :1.11-1.65 ;P=0.027).When stratified by the severity of CHD ,the rs579459 polymorphism in ABO gene using allele model showed statistically significant difference between the severe CHD group and control group (OR :1.78 ,95％ CI :1.25-2.34 ;P=1.85 × 10-4 ). Conclusions The rs579459 polymorphism of ABO gene is associated with susceptibility to CHD in Chinese Han population ,and also with the severity of CHD.
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Objective To observe the difference of caveolin-3(CAV3) gene polymorphism between normal people and diabetic patients in Chinese Han population. Methods Exon gene polymorphism in 50 normal people and 50 T2DM patients were detected by PCR-SSCP. Results The cumulative incidence rate of electrophoretic variation in T2DM patients was 48%, while cumulative incidence rate of normal people was 7%(P<0.001). It was proved that in the variant bands, there were base variant. Conclusions The variant base number of CAV3 gene in human T2DM samples are significantly more than the normal which can be preliminary detected by PCR-SSCP. It indicates that CAV3 gene polymorphism may be one of the genetic backgrounds for the occurence of Chinese T2DM.
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Objective To explore the vascular endothelial function in individuals with normal glucose tolerance (NGT),impaired glucose tolerance (IGT),and type 2 diabetes mellitus,and to study the role played by PPARγcoactivator 1 α (PGC-1 α) in diabetic macrovascular function.Methods A total of 94 subjects with NGT,87with IGT,and 306 with type 2 diabetes mellitus were recruited in the study.Carotid flow-mediated vasodilatation (FMD),glyceryl trinitrate dilatation (GTN),and carotid intima-media thickness (CIMT) were assessed by highresolution B-mode color vascular Doppler instrument.Finally,correlation analysis was conducted.NO,Akt-Ser473phosphorylation levels,IL-β,and PGC-1 α mRNA expression levels were measured by means of nitrate reductase,western blot,and reverse transcriptase real-time fluorescence quantitative PCR assay methods in peripheral blood mononuclear cells respectively.Results FMD in newly-diagnosed type 2 diabetic group was significantly lower than that in NGT and IGT groups(P＜0.01).GTN and CIMT showed no difference.PGC-1 α mRNA transcription level in diabetic group was significantly lower than that in non-diabetic groups (P＜0.01).Correlation analysis showed that PGC-1 α was positively correlated with FMD and GTN (P＜0.05 or P＜0.01).Logistic regression analysis revealed that PGC-1 α was independently associated with FMD (P ＜ 0.01) after adjusting other influencing factors.Conclusion FMD is a more sensitive early warning indicator of endothelial function than CIMT and GTN.As indices of atherosclerosis,CIMT and GTN are more or less focused on the progression of macrovascular complications.PGC-1 α is a protective factor of macro-vasculature in diabetes mellitus,and its effect may be achieved through the protection of the vascular endothelium.
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Objective To investigate the association of PGC-1 α gene single nucleotide polymorphisms (SNPs) with type 2 diabetes mellitus in Southern China Han population. Methods 350 patients with type 2 diabetes mellitus and their parents and 366 normal Han volunteers were recruited in the study. Their blood specimens were collected to extract the genornic DNA. Thr394Thr(G/A), Gly482Ser(G/A), Thr528Thr(A/G) and Thr612Met (C/T) genotypes were identified by PCR-RFLP and DNA direct sequencing. The possible association was analyzed between diabetic patients with the specific cSNPs and their haplotypes by case-control and haplotype relative risk (HRR) and transmission disequilibrium test (TDT) methods. Results (1) The case- control study indicated that G and A allele frequencies of PGC-1 α gene Gly482Ser variant were 0.589, 0.411 in type 2 diabetic group and 0.687, 0.313 in normal group respectively (X<'2> = 15.076, P < 0.01). The allele frequencies of Thr394Thr, Thr528Thr, Thr612Met polymorphisms did not show significant difference between twogroups respectively (all P > 0.05). The distributions of Thr394Thr-Gly482Ser-Thr528Thr haplotypes in the diabetic group were significanly different from the controls (X<'2> = 40.2, P < 0.05) and had a linkage disequilibrium with type 2 diabetes mellitus (t = 2.503, P < 0.05). (2) The family-basod studies showed that 482A allele was transmitted more significantly both via TDT and extended TDT from heterozygous parents to patients than expected respectively (all P < 0.05). HRR also supported that the 482A allele was more often transmitted to patients than predicted by chance (X<'2> = 7.217, P = 0.007, HRR = 1. 450). TDT analyses of haplotypes suggested that the frequencies of 394A-482A-528A-612C,394A-482A-528A-612T, 394A-482A-528G-612C and 394A-482A-528G- 612T haplotypes significantly deviated from 0.5 (P < 0.05 or P < 0.01). Conclusion In Southern China Hanpopulation, type 2 diabetes mellitus is associated with the Gly482Ser variant of PGC-1α gene, and Thr394Thr (G/ A) variant of PGC-1α gene appears to play an auxiliary role in this association.
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<p><b>OBJECTIVE</b>To investigate the association of the 482G/A polymorphism of the PGC-1alpha gene with type 2 diabetes by family-based study in the Han population in South China, and to analyze the quantitative and qualitative binding force changes between the PGC-1alpha domain mutant and MEF2C, as well as to evaluate the possibility of PGC-1alpha -MEF2C-GLUT4 pathway in the pathogenesis of type 2 diabetes.</p><p><b>METHODS</b>Blood samples were collected from 350 patients with type 2 diabetes and their first-degree relatives. Genomic DNA was extracted and polymorphic PGC-1alpha genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism and direct DNA sequencing. The results were analyzed by family-based transmission disequilibrium test (TDT) and haplotype relative risk (HRR). The protein-protein interaction between PGC-1alpha and MEF2C was detected by means of the site-directed mutagenesis kit and bacteriomatch two-hybrid system kit.</p><p><b>RESULTS</b>In the family-based study, HRR analyses demonstrated that the 482A allele was more often transmitted to patients than predicted by chance (chi (2)= 7.2170, P= 0.0072, HRR= 1.4496). TDT-extended test(ETDT) analyses also revealed that PGC-1alpha 482A allele was significantly deviated from 0.5 from heterozygous parents to patients than expected (219 trios, P= 0.0310; 350 trios, P= 0.0292). BacterioMatch Two-Hybrid System showed that 482A variation could lead to decreased binding force between PGC-1alpha and MEF2C (62.1+/- 8.97, P< 0.05).</p><p><b>CONCLUSION</b>The 482A polymorphism increases the risk of developing type 2 diabetic mellitus in the South China Han population, which might be mediated by the PGC-1alpha -MEF2C-GLUT4 pathway.</p>
Subject(s)
Female , Humans , Male , Middle Aged , Asian People , Genetics , Diabetes Mellitus, Type 2 , Genetics , Metabolism , Ethnicity , Genetics , Gene Frequency , Genetic Predisposition to Disease , Glucose Transporter Type 4 , Metabolism , Haplotypes , Heat-Shock Proteins , Genetics , Metabolism , Logistic Models , MADS Domain Proteins , Genetics , Metabolism , MEF2 Transcription Factors , Myogenic Regulatory Factors , Genetics , Metabolism , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha , Polymorphism, Single Nucleotide , Genetics , Protein Structure, Tertiary , Genetics , Signal Transduction , Transcription Factors , Genetics , Metabolism , Two-Hybrid System TechniquesABSTRACT
The study of subjcts with T2DM (n=120) and NGT (n=106) in using the screening of PGC-1? gene for SNPs by PCR-SSCP and DNA sequencing showed that four SNPs(Thr394Thr、Gly482Ser、Thr528Thr、Thr612Met) in the PGC-1? gene were found in 50 Han Chinese type 2 diabetic patients.A Gly482Ser polymorphism of PGC-1? gene was associated with type 2 diabetes.[
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Objective To investigate the proportion of different types, distribution of genders, ages as well as the relative factors in inpatient with glaucoma. Design Retrospective case series. Participants 5058 cases of inpatients in Xingtai Eye Hospital, Hebei province from June 2004 to May 2009 were included. Methods Statistical analysis was conducted for 5058 cases of inpatients with glausoma. Main outcome Measures The type of glaucoma, age, gender and their percentages. Results In all 5058 cases, the patients with primary glaucoma, secondary glaucoma and congenital glaucoma accounted for 59.07%, 37.92% and 3.01% respectively. Primary angle-closure glaucoma (PACG) accounted for 88.65% in primary glaucoma, and primary open angle glaucoma (POAG) accounted for 11.35%. In PACG, acute PACG accounted for 53.15%, chronic PACG 46.85%;The female over forty accounted for 69.54%, male 26.95%. In POAG, the female over forty accounted for 69.54%, male 28.02%. From June 2004 to May 2005, POAG accounted for 11.32% in primary glaucoma, 12.44% from June 2008 to May 2009. There was no statistically significant difference. Conclusion In the central part of China, the majority of inpatients with glaucoma was PACG. It may relate to the regional,economic and cultural conditions.
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AIM: To determine the thermo-stability of quercetin in Compound Flavone Capsules in order to predicate the capsules's shelf life. METHODS: The quercetin content in Compound Flavone Capsules was determined by HPLC and its stability was determined by the accelerate test with constant temperature method. RESULTS: The shelf-life of Compound Flavone Capsules was 2.5 years. CONCLUSION: The methods adopted in the study are simple and convenient and Compound Flavone Capsules have good stability.