OBJECTIVETo investigate the association of polymorphisms in the apolipoprotein B gene (APOB) 3'variable number of tandem repeat with natural longevity in the Xinjiang Uighur nationality people.

METHODSTotally 191 healthy individuals over 90 years and 53 individuals aged 65-70 years were recruited among Xinjiang Uighur population, the nationality, gender and living area were matched. Genotyping was performed using polymerase chain reaction-sequence specific primer(PCR-SSP) and PCR-sequencing.

RESULTSFourteen alleles were found in the Xinjiang Uighur nationality population. The frequency of HVE36 and HVE42 in the natural longevity group were significantly higher than that in the control group (both P<0.05) and HVE44, HVE46, HVE48 and HVE58 were only found in the natural longevity group. However, the frequency of HVE26, HVE30 and HVE34 were markedly lower in the natural longevity group compared to the control group. Logistic regression analyses revealed that allele L and the genotypes LL were positively associated with age, whereas the allele S and genotype SS were negatively associated with age (both P<0.05). Each allele consists of 15 bp tandem repeats with rich-AT by PCR-sequencing.

CONCLUSIONThese results indicate that the S allele, and SS genotype are frail factors in China Uighur natural longevity people, whereas allele L and genotypes LL are protective factors.

Aged ; Aged, 80 and over ; Apolipoproteins B ; genetics ; Base Sequence ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Longevity ; genetics ; Male ; Middle Aged ; Minisatellite Repeats ; genetics ; Molecular Sequence Data ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics

OBJECTIVETo investigate the association of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with type 2 diabetes mellitus (T2DM).

METHODSTwo hundred and nine patients with T2DM diagnosed based on the criteria for diabetes mellitus in 1999 by WHO and 221 controls were recruited from general population of Dongcheng District in Beijing. All subjects were genotyped for the I/D polymorphism of ACE gene by PCR-fragment length polymorphism (FLP) assay. Blood pressure, levels of plasma glucose, lipids and serum insulin were determined. Body mass index (BMI), waist-hip ratio (WHR) and homeostasis model assessment-insulin resistance index (HOMA-IR) were calculated.

RESULTSThe genotype frequencies for ACE genes DD, ID, and II were 19.1%, 42.1%, and 38.8% in patients, respectively, and 9.6%, 49.4%, and 41.0% in controls, respectively. The ACE DD genotype frequency was significantly higher in patients than in controls (chi2 = 7.61, P = 0.022). Multivariate logistic regression analysis showed that the ACE DD genotype was a risk factor for T2DM, with the OR of 2.35 (95% CI 1.17-4.71) adjusted for age, sex, BMI, WHR, blood pressure, and serum cholesterol levels.

CONCLUSIONThe ACE DD genotype is associated with the increased susceptibility to type 2 diabetes mellitus.

Adult ; Blood Glucose ; analysis ; Blood Pressure ; Body Mass Index ; Diabetes Mellitus, Type 2 ; genetics ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Humans ; Insulin ; blood ; Insulin Resistance ; Lipids ; blood ; Male ; Middle Aged ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Genetic ; Risk Factors

OBJECTIVETo explore the distribution of polymorphisms of apolipoprotein E(apoE) gene and its relation to natural longevity in the Xinjiang Uighur people.

METHODSUsing polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), the authors obtained data from centenarians(n=42), 90-year-old people (n=102), 65-70-year-old people (n=70) and controls(n=53).

RESULTSThe frequencies of apoE genotypes epsilon 3/4, epsilon 3/3 and epsilon 2/3 were 2.4%, 69.0% and 23.8% respectively in the centenarian group, and the frequencies of their epsilon 4, epsilon 3 and epsilon 2 alleles were 1.2%, 82.1% and 16.7%. The frequencies of genotype epsilon 3/4 and epsilon 4, epsilon 3 allele in the centenarian group were significantly lower than those in controls(P< 0.01), whereas the frequencies of genotype epsilon 2/3 and epsilon 2 allele in the centenarian group were significantly higher than those in controls(P< 0.01). Longevity was noted to be positively correlated with epsilon 2 and negatively correlated with epsilon 4.

CONCLUSIONThis relationship reflects a genetic influence on differential survival and may point to pleiotropic age-dependent effects on longevity.

Aged ; Aged, 80 and over ; Apolipoproteins E ; genetics ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Longevity ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length

Essential hypertension (EH) is a complex multifactorial disorder with genetic and environmental factors contributing to its prevalence. The genetic features have been revealed from the significant familial aggregation and the consistency among twins. Therefore, identification of EH susceptibility genes will be helpful to understand the pathophysiology of the disease, identify populations with potential risks of developing the disease, and select antihypertensive drugs. The present article introduces the search strategies of EH susceptibility genes and some genetic variants related to EH; meanwhile, it tries to analyze the difficulties and the role for samples in identifying susceptibility genes to EH.
Genetic Predisposition to Disease ; genetics ; Genetic Testing ; methods ; Genetic Variation ; Humans ; Hypertension ; genetics ; Polymorphism, Genetic ; Research Design

OBJECTIVETo investigate the changes of gene expression file in transitional cell carcinoma of bladder after hepatocyte cell adhesion molecule(hepaCAM) overexpression.

METHODSAffymetrix Human Genome U133 Plus 2.0 Array was used to investigate the changes of gene expression profile between adenovirus-green fluorescent protein(GFP) -hepaCAM group and GFP group in transitional cell carcinoma of bladder EJ cells.Significant Analysis of Microarray(SAM) was used to screen the differentially expressed genes, DAVID software was used to conduct gene ontology analysis and wikiPathway analysis based on the differentially expressed genes. Reverse transcription-polymerase chain reaction and Western blot were applied to verify microarray data.

RESULTSCompared with the GFP group, a total of 2469 genes were up-regulated or down-regulated by more than 2 times in the GFP-hepaCAM group. Among these genes, 1602 genes were up-regulated and 867 were down-regulated.Most of the differentially expressed genes were involved in the function of cell proliferation and cell cycle regulation. The mRNA expressions of nibrin, liver kinase B1, and cyclin D1 detected by reverse transcription-polymerase chain reaction in three different bladder cancer cell lines were consistent with the microarray data.The protein expressions of nibrin and liver kinase B1 in these three cell lines measured by Western blot were consistent with the mRNA expression.

CONCLUSIONSHepaCAM can alter the gene expression profile of bladder cancer EJ cells. The well-known anti-tumor effect of hepaCAM may be mediated by regulating the gene expression via multiple pathways.

Carcinoma, Transitional Cell ; genetics ; pathology ; Cell Cycle Proteins ; metabolism ; Cell Line, Tumor ; Cyclin D1 ; metabolism ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Genes, Tumor Suppressor ; physiology ; Humans ; Nuclear Proteins ; metabolism ; Protein-Serine-Threonine Kinases ; metabolism ; Proteins ; genetics ; physiology ; Urinary Bladder Neoplasms ; genetics ; pathology

OBJECTIVETo investigate the feasibility that transforming growth factor-beta1 (TGF-beta1) -loaded fibrin sealant (FS) promotes bone marrow mesenchymal stem cells (BMSCs) to create tissue engineering cartilage in vivo.

METHODSThe BMSCs were isolated from healthy human and amplified in vitro, and then induced by defined medium containing TGF-beta1 and dexamethasone. After 7 days the induced BMSCs were collected and mixed with TGF-beta1-loaded FS or FS as BMSCs+ FS-TGF-beta1 group and BMSCs+ FS experimental group. Then the mixture was injected by a needle into the dorsum of nude mice. In control group, only FS or BMSCs were injected. The tissue engineering specimens were harvested from nude mice 12 weeks later. Gross observation, average wet weight measurement, glycosaminoglycan (GAG) quantification, histology and immunohistochemistry were used to evaluate the results.

RESULTSThe BMSCs have possessed the shape and functional characters of chondrocyte when transferred to a defined medium. After injection of the mixture, the cartilage-like tissue were formed in two experimental groups. Compared with BMSC+ FS group, the specimens of BMSCs +FS-TGF-beta1 group were larger and firmer. Alcian staining showed better metachromatic matrix formation. The GAG contents were significantly higher. Immunohistochemical staining of collagen type II was stronger. However, no cartilage-like tissue was formed in two control groups.

CONCLUSIONTGF-beta1-loaded FS can promote BMSCs to contract injectable tissue engineering cartilage in vivo.

Animals ; Biocompatible Materials ; Cell Differentiation ; drug effects ; Cells, Cultured ; Chondrogenesis ; drug effects ; Dexamethasone ; pharmacology ; Fibrin Tissue Adhesive ; Humans ; Mesenchymal Stromal Cells ; cytology ; drug effects ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Tissue Engineering ; methods ; Transforming Growth Factor beta ; pharmacology

OBJECTIVETo investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese.

METHODSA total of 240 patients with metabolic syndrome and 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism analysis.

RESULTSThe allelic frequency of the Leu72Met polymorphism was 17.3% in the patient group and 11.9% in the control group (chi2 = 7.36, P = 0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio = 1.57, P = 0.01). No Arg51Gln variants were found in our study subjects.

CONCLUSIONRather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Han Nationality Chinese.

Asian Continental Ancestry Group ; genetics ; China ; epidemiology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Ghrelin ; genetics ; Humans ; Male ; Metabolic Syndrome ; genetics ; Middle Aged ; Polymorphism, Genetic

OBJECTIVETo explore the relationship between the -344T/C polymorphism of aldosterone synthase (CYP11B2) gene and essential hypertension in Chinese Mongolian population.

METHODSBy cluster-sampling method, a total of 1575 Mongolian people in Tongliao city of Inner Mongolia were included in this study. And 417 subjects were normotension, 596 subjects were prehypertension and 562 subjects were essential hypertension. A survey was conducted to collect data by personal interview using a standard questionnaire, meanwhile fasting blood samples were drawn. Height, weight, waist circumference, blood pressure, blood-fat indexes and fasting plasma glucose were measured. The variant genotypes of CYP11B2 were identified by PCR assays. The relationship between the -344T/C polymorphism of CYP11B2 gene and essential hypertension were analyzed by multinomial logistic regression model.

RESULTSCrude prevalence of prehypertension among Mongolian people was 37.84% (596/1575) and hypertension was 35.68% (562/1575). The age-standardized prevalence of prehypertension was 38.57% and hypertension was 31.53%. The frequency of the T and C allele was 0.66 (481/728) and 0.34 (247/728) for normotension group, 0.69 (696/1042) and 0.33 (346/1042) for prehypertension group, 0.71 (706/998) and 0.29 (292/998) for hypertension group. The multiple logistic models showed CYP11B2 variant genotypes were associated with prehypertension (TT/CC, OR = 1.33, 95%CI: 0.87 - 2.01; TC/CC, OR = 1.74, 95%CI: 1.13 - 2.67; TC + TT/CC, OR = 1.49, 95%CI: 1.01 - 2.22); CYP11B2 variant genotypes were associated with hypertension (TT/CC, OR = 1.70, 95%CI: 1.07 - 2.70; TC/CC, OR = 1.59, 95%CI: 0.98 - 2.50; TC + TT/CC, OR = 1.66, 95%CI: 1.06 - 2.58).

CONCLUSIONCYP11B2 gene -344T/C polymorphism were associated with essential hypertension in Chinese Mongolian population.

Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; Blood Pressure ; genetics ; China ; epidemiology ; Cytochrome P-450 CYP11B2 ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertension ; epidemiology ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Young Adult

1.22-4.56), 2.05(1.07-3.94) and 5.56(2.54-12.18) respectively. Conclusion Essential hypertension might positively be affected by the interaction of the C (-344) T polymorphism of CYP11B2 and the drinking index in Chinese Mongolian population.

ObjectiveTo investigate the effect of the Yap1 gene and tanshinone ⅡA on the proliferation, migration, and invasion abilities of Huh-7 hepatoma cells. MethodsA total of 10 pairs of human hepatocellular carcinoma (HCC) samples and adjacent tissue samples were collected in Zhongnan Hospital of Wuhan University from June 1 to December 1, 2019. Quantitative real-time PCR and Western blotting were used to measure the expression of the Yap1 gene and phenotype-related molecules. MTT cell proliferation detection reagent was used to measure the inhibition rate of cell proliferation after the treatment with different concentrations of tanshinone ⅡA. Western blotting was used to measure the changes in the expression of apoptosis-and migration-related markers after different interventions. Flow cytometry and Transwell assay were used to measure apoptosis and cell migration and invasion abilities. The data of 375 cases of liver cancer and 50 cases of relatively normal liver tissue samples were downloaded from The Cancer Genome Atlas, including clinicopathological information. The t-test was used for comparison of continuous data between two groups, and the chi-square test was used for comparison of categorical data between two groups. ResultsIn 8 of the 10 pairs of HCC samples and adjacent tissue samples, HCC samples had significantly higher expression of Yap1 than the adjacent tissue samples. Compared with the normal human liver epithelial cells L02, the Huh-7 and HCCL-M3 hepatoma cells had a significant increase in the expression of Yap1. The silencing efficiency of si-Yap1-3 transfection reached 87.004% at the protein level. MTT results showed that tanshinone ⅡA effectively inhibited the proliferation of Huh-7 cells, with a half inhibitory concentration of 8.683 μmol/L. After the cells were treated with si-Yap1-3 and tanshinone ⅡA, there was an increase in the expression of the downstream marker for proliferation and migration E-cadherin and a reduction in the expression of vimentin, and the results of Transwell assay showed that compared with the si-NC group, the tanshinone ⅡA+si-Yap1-3 group had significant reductions in the migration and invasion abilities of Huh-7 cells (migration: 43.19±2.88 vs 132.20±10.03, t=8.527, P=0.001; invasion: 53.95±4.20 vs 179.10±11.11, t=4.484, P=0.011). The group treated with si-Yap1-3 and tanshinone ⅡA had an increase in the expression of the apoptosis-related marker Bax and a reduction in the expression of Bcl-2, as well as a significantly higher early apoptosis rate than the si-NC group (2598% vs 9.21%, χ2=4.078, P＜0.05). ConclusionOncogene Yap1 silencing combined with tanshinone ⅡA can promote the apoptosis of Huh-7 hepatoma cells and inhibit their migration and invasion, which can provide certain guiding significance for clinical medication.