Abstract:Aim To study the effect of the mutation D~(442)→G in cholesteryl ester transfer protein gene on the level of serum high density lipoprotein cholesterol. Methods 189 normal subjects were randomly collected,cholesteryl ester transfer protein gene D~(442)→G mutation were examined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP),and the serum lipids of the subjects were determined. Results The allelic frequencies of the cholesteryl ester transfer protein 15 D~(442)→G in the group(58 subjects) with high density lipoprotein cholesterol≥1.7 mmol/L and the control(131 subjects) were 6.03% and 1.53% respectively(p<0.05),the results showed that there was statistical difference between the two groups.The level of high density lipoprotein cholesterol in the group with the cholesteryl ester transfer protein gene exon 15 D~(442)→G was higher than the control group(p<0.01). Conclusion Exon 15 D~(442)→G mutation in cholesteryl ester transfer protein is related to the elevated level of serum high density lipoprotein cholesterol.

Abstract:Aim To understand the relationship of interleukin-6-gene 174G/C polymorphism and insulin resistance in Han people in south China. Methods Interleukin-6-gene 174G/C polymorphism were detected in 69 patients with high insulin resistance index and 69 control with low insulin resistance index by polymerase chain reaction-restriction fragment length polymorphism analytical method, meanwhile, combined with blood pressure, plasma glucose, blood fat, et al to undertake cross-sectional study. Results In Han people in south China, interleukin-6-gene 174G/C polymorphism main was G/G homogenotype and distribution frequency was 136/138 (98.55%), G/C hetrogenotype distribution frequency was 2/138(1.45%), C/C mutant genotype had not been found. There was no relationship between the kinds of genotype and insulin resistance index. Conclusion Maybe there is no relationship between interleukin-6-gene 174G/C polymorphism and insulin resistance in Han people in south China.

Abstract:Aim To investigate the association of peroxisome proliferator activated receptor γ2(PPARγ2) gene polymorphism with type 2 diabetes mellitus(T2DM) and early period atherosclerosis(As) in Han people of Dalian(Chinese.Methods The genotypes of Pro12Ala variant in PPARγ2 gene exon B were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) assay in 202 T2DM patients(77 cases with As and 125 cases without As) and 102 control subjects.Results The genotype frequencies in As group, non-As group and control group are 0.961,0.896 and 0.892 for Pro/Pro.The genotype frequencies are 0.039,0.104 and 0.108 for Pro/Ala.All of them are 0 for Ala/Ala.The frequencies of Pro/Pro are not different between subjects in control group and diabetes(P=0.407).There is no difference between diabetic patients without As and those with As(P=0.096).In control group,subjects with Ala carrier have higher BMI than those with non-Ala carrier(P=0.003).Stepwise regression analysis shows PPARγ2-Pro12Ala is not an independent danger factor for BMI. In diabetic group,there is no association between PPARγ2 polymorphism and clinical characteristics.Conclusions PPARγ2 gene Pro12Ala polymorphism is not associated with the incidence of T2DM and early period As in Han people of Dalian Chinese.But subjects with Ala carrier have higher BMI than those with non-Ala carrier in control group.

Abstract:Aim To screen the mutations in lipoprotein lipase(LPL) gene exon 9 and to investigate the effect of mutation on triglyceride(TG) and high density lipoprotein cholesterol(HDLC) level. Methods The exon 9 of LPL gene was amplified by PCR and the mutations were examined by polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP);the natures of mutations were identified by DNA sequencing and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results Only nonsense mutation Ser~(447)→stop was screened by PCR-SSCP,one subject was homozygous and 77 subjects were heterozygous.The frequency of stop~(447) allele is 9.4% and the incidence of Ser~(447)→stop was(18.6%) in the 420 subjects with normal TG level.The triglyceride level in LPL stop~(447) carriers(1.05±0.32 mmol/L)was lower than that in LPL stop~(447)non-carriers(1.13±0.28 mmol/L)(p<0.05);HDLC level in the former(1.28±0.28 mmol/L)was higher than the latter(1.25±0.27 mmol/L)(p> 0.05). Conclusions Only Ser~(447)→stop mutation exists in LPL exon 9 of 420 subjects with normal TG and the Ser~(447)→stop mutation have the minor effect on lowering TG level.

Abstract:Aim To investigate the association between myocardial infaction(MI) and functional matrix metalloproteinase-9 polymorphism(C1562T). Methods A case-control study of seventy-eight patients with angiographically documented MI and eighty-one control subjects with a normal angiogram was conducted.Genotype was determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) for the common C1562T functional promoter polymorphism of the MMP-9 gene. Results The results of individual polymorphisms analysis showed that the frequency of C/T genotype and 1562T allele of MMP-9 gene of MI patients(26.9% and 13.5%) were significantly higher than that in control group(9.9% and 4.9%;p<0.01). Conclusion The present findings suggest that the genetic polymorphism in MMP-9 promoter(C1562T) is associated with the susceptibility to MI in the Han population of China.

Abstract:Aim To explore the association of fibrinogen gene polymorphism with hypertension ischemic complications. Methods The Fibrinogen β-455G/A gene polymorphism was identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 149 hypertensive cases without complication, 124 hypertension cases with coronary heart disease and 148 matched controls by age and sex. Turbidimetric assays were performed to measure the plasma fibrinogen levels of all cases. Results The plasma fibrinogen level in coronary heart disease group was significantly higher than that in the controls (p<0.01) and hypertension patients (p<0.05). The A-allele was associated with elevated plasma fibrinogen levels in both patients and controls. In A-allele carriers with coronary heart disease, the older people had significantly higher plasma fibrinogen levels than the younger (p<0.05). The distribution of β-455G/A gene polymorphism was in accordance with the Hardy-Weinberg equilibrium (p>0.05). The A-allelic frequency in the coronary heart disease group was 0.238, significantly higher than that in the control group (0.152) and hypertension group (0.171; p<0.01), but there was no significantly difference between the control group and hypertension group (p>0.05). Logistic regression analysis showed that the relative risk to coronary heart disease in the hypertensions carrying A-allele (GA+AA genotype) increases 1.637 times. Conclusions The study demonstrates that fibrinogen is the important risk factor for the cardiovascular diseases. The plasma fibrinogen levels are affected by both genetic and environmental factors. The fibrinogen β-55G/A gene polymorphism may influence the progress of the coronary heart disease by regulating plasma fibrinogen levels. Genetic factor is associated with coronary heart disease.