OBJECTIVE: To explore the correlation of cytochrome B-245 alpha chain (CYBA) rs4673 and cholesteryl ester transfer protein (CETP) rs12720922 polymorphisms with the susceptibility of gene-ralized aggressive periodontitis (GAgP). METHODS: The study was a case-control trial. A total of 372 GAgP patients and 133 periodontally healthy controls were recruited. The CYBA rs4673 and CETP rs12720922 polymorphisms were detected by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). Logistic regression models were used to analyze the correlation of CYBA rs4673 and CETP rs12720922 variants with the susceptibility of GAgP. The interaction between the two gene polymorphisms to the susceptibility of GAgP was analyzed by the likelihood ratio test. The interaction model adopted was the multiplication model. RESULTS: The mean age of GAgP group and control group was (27.5±5.2) years and (28.8±7.1) years respectively. There was significant difference in age between the two groups (P < 0.05). The gender distribution (male/female) was 152/220 and 53/80 respectively, and there was no significant difference between GAgP group and controls (P>0.05). For CYBA rs4673, the frequency of CT/TT genotype in the GAgP group was significantly higher than that in the controls [18.0% (66/366) vs. 10.6% (14/132), P < 0.05]. After adjusting age and gender, the individuals with CT/TT genotype had a higher risk of GAgP (OR=1.86, 95%CI: 1.01-3.45, P < 0.05), compared with CC genotype. There was no statistically significant difference in distributions of the CETP rs12720922 genotypes (GG, AA/AG) between GAgP patients and healthy controls (P>0.05). A significant interaction between CYBA rs4673 and CETP rs12720922 in the susceptibility to GAgP was observed. The GAgP risk of the individuals with CYBA rs4673 CT/TT and CETP rs12720922 GG genotypes was significantly increased (OR=3.25, 95%CI: 1.36-7.75, P < 0.01), compared with those carrying CC and AA/AG genotypes. CONCLUSION CYBA rs4673 CT/TT genotype is associated with GAgP susceptibility. There is a significant interaction between CYBA rs4673 CT/TT genotype and CETP rs12720922 GG genotype in the susceptibility of GAgP.
Adult ; Aggressive Periodontitis/genetics* ; Case-Control Studies ; Cholesterol Ester Transfer Proteins/genetics* ; Cytochrome b Group ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; NADPH Oxidases/genetics* ; Polymorphism, Single Nucleotide ; Young Adult

OBJECTIVETo assess the association between I405V and D442G polymorphisms of the CETP gene with cerebral hemorrhage (CH) and a related lipid profile among ethnic Han Chinese from Changsha.

METHODSA case-control study was carried out, which enrolled 170 cerebral hemorrhage patients and 191 ethnicity-, age- and sex-matched health controls. Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine the polymorphisms. Lipid profile was determined by means of oxidase method. Statistic analyses were performed with SPSS 16.0.

RESULTSNo significant difference was found in the CETP gene I405V and D442G genotypes and allelic distribution between the CH patients and controls (P>0.05). There was no association between CETP gene I405V polymorphism and lipid profile in both groups (P>0.05). CH patients with DG genotype of the D442G polymorphism had higher TC and low density lipoprotein-cholesterol (LDL-C) levels than those with a DD genotype(P<0.05).

CONCLUSIONCETP gene I405V polymorphism may not be associated with CH among ethnic Han Chinese from Changsha, while the D442G polymorphism of the CETP gene may be associated with TC and LDL levels in the same population.

Adult ; Aged ; Asian Continental Ancestry Group ; ethnology ; genetics ; Base Sequence ; Case-Control Studies ; Cerebral Hemorrhage ; blood ; ethnology ; genetics ; China ; ethnology ; Cholesterol Ester Transfer Proteins ; genetics ; metabolism ; Cholesterol, HDL ; blood ; Female ; Humans ; Lipids ; blood ; chemistry ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Polymorphism, Single Nucleotide

OBJECTIVETo investigate cholesteryl ester transfer protein (CETP) gene polymorphism -629C/A among Han Chinese patients with coronary heart disease (CHD) in Tianjin region, and to assess the influence of genetic factors on therapeutic effect of atorvastatin and clinical outcome in order to provide a pharmacogenomic basis for personalized treatment.

METHODSFrom October 2010 to July 2011, 232 patients with angiographically confirmed CHD were recruited. Polymorphism of position -629 of CETP gene promoter was determined with polymerase chain reaction - restricted fragment length polymorphism (PCR-RFLP) method. Serum level of CETP was determined with enzyme-linked immunosorbent assay (ELISA). Lipid level in all patients was determined at baseline and after 12 months of treatment with 20 mg/d atorvastatin. Clinical follow-up was carried out for more than a year (12-23 months). Major adverse cardiac events including death, non-fatal infarction, revascularization and stroke (MACE) were recorded. A Kaplan-Meier log-rank test was used to compare MACE-free survival for individuals with various genotypes.

RESULTSThe frequency of -629A allele was 0.408. Compared with CC or CA genotypes, individuals with AA genotype had lower CETP levels and higher high-density lipoprotein cholesterol (HDL-C) levels, albeit without statistical significance (F = 0.893, P = 0.411 and F = 1.279, P = 0.282, respectively). There also appeared to be a negative correlation between serum HDL-C and CETP levels, though no statistical significance was detected (r = -0.151, P = 0.081). After 12 months atorvastatin therapy, individuals with CC genotype had greater reduction of low-density lipoprotein cholesterol (LDL-C), reduced LP(a) and elevated HDL-C compared with CA or AA genotypes. LDL-C level has decreased by 35.41% in CC homozygotes, 18.84% in CA heterozygotes and 8.15% in AA homozygotes (P = 0.001). HDL-C level has increased by 14.37% in CC homozygotes, 10.48% in CA heterozygotes and 6.64% in AA homozygotes, respectively. However, above changes did not reach statistical significance (P = 0.470). The incidence of MACE after a mean follow-up of (18.66 ± 5.99) months was 7.76%, which included 2 (0.86%) deaths, 5 (2.16%) non-fatal infarctions, 9 (3.88%) revascularizations and 2 (0.86%) strokes. The cumulative MACE-free survival rates were 92.4%, 85.3% and 65.0% for CC, CA and AA genotypes, respectively (Log-rank P = 0.444).

CONCLUSIONOur results suggested that AA variant for the -629A allele of CETP gene had higher HDL-C levels and reduced CETP levels, though patients with CC genotype appeared to have better benefited from statin therapy with reduction in LDL-C and LP(a) levels. Long-term clinical prognosis was however not affected by the 3 genotypes.

Adult ; Aged ; Atorvastatin Calcium ; Cholesterol Ester Transfer Proteins ; blood ; genetics ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; Coronary Artery Disease ; blood ; drug therapy ; genetics ; Female ; Heptanoic Acids ; therapeutic use ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Polymorphism, Single Nucleotide ; Pyrroles ; therapeutic use ; Treatment Outcome

OBJECTIVETo investigate the association between L296Q polymorphism in the cholesterol ester transfer protein(CETP)gene and type 2 diabetes mellitus(T2DM)and blood lipids.

METHODSPlasma glucose and lipid levels were measured in a total of 303 subjects recruited from the West China Hospital of Sichuan University. The subjects were divided into 4 groups according to the levels of plasma glucose and triglyceride, namely T2DM with hypertriglyceridemia group, group of T2DM with normal triglyceride, group of hypertriglyceridemia without DM and group of normal controls, respectively. Genotypes of L296Q polymorphism in the CETP gene of all subjects were analyzed by real-time fluorescent quantitative PCR(FQ-PCR).

RESULTSNo significant differences were observed in the frequencies of genotypes LL and LQ and the 296Q allele among the four groups (chi-square=3.459, P>0.05; chi-square=3.155, P>0.05, respectively), nor the frequencies of genotypes LL and LQ between the T2DM and non-T2DM, or plasma lipid levels between the 296Q allele carriers and those of genotype LL.

CONCLUSIONNo association was found between the L296Q polymorphism in the CETP gene and T2DM as well as plasma lipid levels in various groups of Chinese in this study.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Cholesterol Ester Transfer Proteins ; genetics ; Diabetes Mellitus, Type 2 ; blood ; genetics ; pathology ; Female ; Gene Frequency ; Genotype ; Humans ; Lipids ; blood ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

OBJECTIVETo study whether the polymorphisms of TaqIB of cholesteryl transfer protein (CETP) gene and 1444C/T of C reactive protein (CRP) gene are associated with non-valvular atrial fibrillation in the Chinese Han population.

METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to detect the distribution of genotypes of CETP TaqIB and CRP 1444C/T in 147 patients with non-valvular atrial fibrillation and 147 control subjects in Chinese Han population.

RESULTS(1) The distribution of CETP TaqIB and CRP 1444C/T genotypes was in Hardy-Weinberg equilibrium. (2) A statistically significant difference between patients and controls for CETP TaqIB (P= 0.005, OR= 0.614, beta = -0.488) and CRP 1444C/T (P= 0.003, OR= 2.428, beta = 0.887) was observed. (3) In female group, significant difference was observed in smoking, CETP TaqIB and CRP 1444C/T polymorphisms. And in male group, significant difference was observed in body mass index and CETP TaqIB polymorphisms.

CONCLUSION(1) These results suggest that CETP TaqIB (B2 allele as protective factor) and CRP1444C/T (T allele as risk factor) genetic polymorphisms may be associated with the non-valvular atrial fibrillation in the Chinese Han population. (2) Smoking and CRP1444T single nucleotide polymorphism may induce hereditary susceptibility to non-valvular atrial fibrillation in female. Obesity may induce hereditary susceptibility to non-valvular atrial fibrillation in male.

Aged ; Asian Continental Ancestry Group ; genetics ; Atrial Fibrillation ; genetics ; C-Reactive Protein ; genetics ; Cholesterol Ester Transfer Proteins ; genetics ; Female ; Genetic Predisposition to Disease ; etiology ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; genetics ; Risk Factors ; Smoking

OBJECTIVETo analyze the effects of cholesterol ester transfer protein (CETP) Taq1B polymorphism on the response of serum HDL-C to dietary factors in hyperlipidemia patients.

METHODSAll 141 hyperlipidemia residents in a community in Shanghai were investigated by a 3-day diet questionnaire. The serum lipids were analyzed, and the polymorphism of CETP gene was detected by PCR-RFLP method. The correlation between dietary factors and serum HDL-C in different genotype was analyzed when considering the effects of sex, age and body mass index.

RESULTThe HDL-C of hyperlipidemia patients was affected by dietary factors and CETP gene Taq1B polymorphism. The strength of the correlation between dietary factors and serum HDL-C was different among the genotype groups. The relation was shown closer in B(2)B(2) subjects than in B(1)B(1).

CONCLUSIONThe Taq1B CETP gene polymorphism should be a strong determinant of HDL-C in hyperlipidemia patients, and might contribute to the heterogeneity in HDL-C response to dietary intervention.

Cholesterol Ester Transfer Proteins ; genetics ; Cholesterol, HDL ; blood ; Diet ; Disease Susceptibility ; Female ; Gene Frequency ; Genotype ; Humans ; Hyperlipidemias ; blood ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

OBJECTIVETo investigate the variations of cholesterol ester transfer protein (CETP) gene and its relation to endogenous hypertriglyceridemia (HTG) in Chinese population.

METHODSOne hundred and thirty-five endogenous hypertriglyceridemics and 214 healthy subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphism (RFLPs) amplified by polymerase chain reaction (PCR). The polymorphic sites studied included Taq IB and -629 C/A polymorphism in CETP gene.

RESULTSThe frequencies of B(2) allele at Taq IB site in normal group and HTG group were 0.418 and 0.382, respectively. The frequencies of A allele at -629 C/A site in the two groups were 0.479 and 0.489, respectively. No significant difference between normal control and HTG groups were found in both allele frequency of the two polymorphism. Linkage disequilibrium was observed between Taq IB and -629 C/A polymorphic sites (D'=0.881). In the normal control group, subjects with genotype B(2)B(2) of Taq IB site had a higher serum mean concentration of HDL-C and lower LDL-C when compared with that of genotype B(1)B(1) and B(1)B(2), respectively (both P< 0.05), while those with genotype CC of -629 C/A site had a lower LDL-C level and higher Apo A II level when compared with that of genotype AC (P< 0.01 and P< 0.05, respectively). The changes of the lipid and lipoprotein levels were only observed in normal male subjects when male and female groups were further separated. No significant changes of lipid and lipoprotein levels were observed in both polymorphism in HTG group. Combined genotype analysis of the two sites, subjects with genotype B(2)B(2)CC in normal controls had higher HDL-C levels but lower serum triglyceride (TG) when compared with B(1)B(1)CC.

CONCLUSIONThese results suggest that Taq IB and -629 C/A polymorphisms in CETP gene are associated with healthy control subjects to some extent in Chinese population, but not with endogenous hypertriglyleridemia in the population group.

Adult ; Aged ; Aged, 80 and over ; Apolipoproteins ; blood ; Asian Continental Ancestry Group ; genetics ; China ; Cholesterol Ester Transfer Proteins ; genetics ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; DNA ; genetics ; metabolism ; Deoxyribonucleases, Type II Site-Specific ; metabolism ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertriglyceridemia ; blood ; ethnology ; genetics ; Linkage Disequilibrium ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Triglycerides ; blood

Ischemic stroke is a heterogeneous disease caused by different pathogenic mechanisms, of which small artery and large artery stroke are the most common. Although the identification of the genes involved is unclear, genetic factors are increasingly recognized as influencing risk for atherosclerosis or arteriolosclerosis directly and indirectly. Genetic makeup may influence the development of major vascular risk factors or alter susceptibility of the cerebral vasculature to these risk factors. Some researchers have reported that atherosclerosis is high in people with functional variants of genes related to matrix deposition (matrix metalloproteinase 3), inflammation (interleukin-6), and lipid metabolism (hepatic lipase, apolipoprotein E, cholesteryl ester transfer protein, and paraoxonase) and clotting (factor V Leiden, fibrinogen). More recently, newly identified risk factors for atherosclerosis, such as plasma homocysteine (5,10-methylenetetrahydrofolate reductase). In this review, we assess the robustness of these associations and examine whether there is any evidence of risk modifications by factors, such as smoking.
Apolipoproteins ; Arteries ; Arteriolosclerosis ; Atherosclerosis ; Brain Ischemia ; Cholesterol Ester Transfer Proteins ; Genetics ; Homocysteine ; Inflammation ; Lipase ; Lipid Metabolism ; Molecular Biology* ; Plasma ; Risk Factors ; Smoke ; Smoking ; Stroke*

OBJECTIVETo study the association between cholesteryl ester transfer protein (CETP) gene polymorphism and insulin resistance in type 2 diabetes.

METHODSCETP-TaqIB gene was genotyped with polymerase chain reaction-restriction enzyme fragment polymorphism analysis in 108 patients with type 2 diabetes and in 60 normal controls. Plasma lipids, fasting insulin, insulin sensitivity index and insulin resistance index were determined in 108 patients with type 2 diabetes.

RESULTSThe distribution of CETP-TaqIB genotypes and B1B2 allele frequency in the patients with type 2 diabetes were similar to that in general population. High density lipoprotein cholesterol (HDL-C), apolipoprotein A1(apoA1) and insulin sensitivity index (ISI) levels were significantly higher in B2B2 genotype than in B1B1 genotype. Fasting insulin (FINS) and Homeostasis model assessment-insulin resistance (HOMA-IR) levels were significantly lower in B2B2 genotype than in B1B1 genotype. No significant differences in triglyceride (TG), total cholesterol(TC),low density lipoprotein cholesterol (LDL-C), apolipoprotein B (apoB) levels were observed among different CETP-TaqIB genotype groups. By multivariate analysis, the determinants of ISI and HOMA-IR were body mass index (BMI), TC, HDL-C and CETP-TaqIB genotype.

CONCLUSIONThe CETP-TaqIB genotype is independently associated with insulin resistance and lipid metabolism. It may be an important risk factor of insulin resistance in type 2 diabetes.

Adult ; Aged ; Aged, 80 and over ; Cholesterol Ester Transfer Proteins ; genetics ; metabolism ; Diabetes Mellitus, Type 2 ; genetics ; metabolism ; Female ; Gene Frequency ; Genotype ; Humans ; Insulin Resistance ; Lipid Metabolism ; Male ; Middle Aged ; Polymorphism, Genetic ; genetics

OBJECTIVETo study the single nucleotide polymorphisms in genes associated with the high density lipoprotein (HDL) metabolism in Chinese population.

METHODSTwo hundred and nine normal Han ethnic subjects, aged 59+/-10 years, were recruited from 5 medical centers in western part of China. DNA was extracted by proteinase K digestion, phenol and chloroform extraction as well as isopropanol precipitation. The polymerase chain reaction (PCR)-restriction fragment length polymorphisms (RFLP) in conjunction with sequencing were employed to test the single nucleotide polymorphisms (SNPs) in ATP-binding cassette transporter (ABCA1), cholesteryl ester transfer protein (CETP) and lipoprotein lipase (LPL) genes.

RESULTSThe allelic frequencies of A and G of ABCA1 gene are 53.4% and 46.6%; of B2 and B1 allele of CETP, 41.0% and 59.0%; of HindIII (-) and (+) allele of LPL, 18.9% and 81.1%; and of PvuII(+) and (-) allele of LPL, 66.0% and 34.0%, respectively. All genotype frequencies fit well with the Hardy-Weinberg equilibrium; the significant linkage disequilibrium exists between LPL HindIII(+)and PvuII(+) polymorphisms. All of the RFLP in these genes result from the single nucleic substitution in fragment recognized by corresponding restriction enzymes.

CONCLUSIONThe genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.

ATP Binding Cassette Transporter 1 ; ATP-Binding Cassette Transporters ; genetics ; Aged ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Cholesterol Ester Transfer Proteins ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Linkage Disequilibrium ; Lipoprotein Lipase ; genetics ; Lipoproteins, HDL ; metabolism ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA