Association Of SstI Polymorphism In ApolipoproteinC3 Gene With Atherosclerotic Cerebral Infarction

Objective: Cerebral infarction(CI) is an emergent disease endangering the people's life and work because of its high mortality and serious disability. Cerebral infarction is a complex multi-gene disease caused by a variety of genetic and environmental factors, with multiple risk factors,including age, hypertension, diabetes, lipid levels, smoking and genetic factors. The relationship between gene mutation and cerebral infarction is the research focus in recent years. The genetic effects on lipid metabolism are in a matter of concern. Some researchs show that, the apolipoprotein C3 (APOC3) Sst I Polymorphism located on APOA1/C3/A4/A5 gene cluster and hypertriglyceridemia are closely related.High triglyceride is a an important risk factor for atherosclerotic cerebral infarction . The aim of this study is to investigate the Association of SstⅠPolymorphism in ApolipoproteinC3 Gene with atherosclerotic cerebral infarction .Methods: The genotype and allele frequencies of APOC3 SstⅠp olymorphism (S1/S2) were analyzed by PCR-restriction fragment length polymorphism in 49 ACI patients and 97 unrelated control individuals. Determination serum triglyceride levels, Analysis of high blood pressure, diabetes, high cholesterol, smoking, ApoC3 gene polymorphism and body mass index point correlation with the incidence of ACI.Results1 The general state of ACI group and the control group: Two groups, there was no difference between the age and sex ratio. ACI group of patients with higher body mass index and diabetes prevalence , but without statistical significance( P >0.05), Significantly higher prevalence of hypertension and smoking rates compared with the control group ( P < 0.05 ).2 In the two groups, S1S1 genotype were prevalent, followed by S1S2and S2S2 is relatively rare; S1 is the main allele and S2 is the rare allele. APOC3 polymorphism genotype distributions in both groups correspond to Hardy - Weinberg equilibrium, with groups'representation. In ACI group and the control group,S1S2,S2S2 genotype frequencies are 0.449 vs 0.288,0.041 vs 0.021 respectively, without statistical significance (P>0.05). S2 allele frequencies are 0.265 vs 0.165,the difference between the two groups was statistically significant(P<0.05).3 In ACI group, serum triglyceride concentrations of S1S1,S1S2,S2S2 genetype individuals are 2.06±0.85 vs 3.13±2.48 vs 3.59±2.71 respectively, exhibited a gradual increase , but without statistical significance (F=2.31, P=0.111). In ACI group, serum triglyceride concentrations of S1S1,S1S2,S2S2 genetype individuals are 1.98±0.91 vs 2.27±1.66 vs 2.2±0.99 respectively, without statistically significant difference between the three groups(F=0.63, P=0.535).4 In HTG and NTG subgroups of ACI group,S1S1,S1S2,S2S2 genotype frequencies are 0.407 vs 0.636, 0.556 vs 0.318, 0.037 vs 0.046 respectively, without statistical significance (χ~2=2.761, P=0.097). S2 allele frequencies are 0.315 and 0.205, without statistical significance (χ2=1.512,P=0.219). In HTG and NTG subgroups of the controls, S1S1,S1S2,S2S2 genotype frequencies are 0.698 vs 0.682, 0.264 vs 0.318, 0.038 vs 0.00 respectively, without statistical significance (χ~2=0.342, P=0.559). S2 allele frequencies are 0.168 and 0.161, without statistical significance(χ2=0.019,P= 0.892).5 A multivariate logistic regression analysis, with a =0.1as the selected and exclusion criteria. The dependent variable was getting the ACI or not and the independent variables Included hypertension, diabetes, smoking, carrying S2 allele, obesity (BMI>24) and other risk factors for ACI. Found that smoking history, hypertension, diabetes, carrying S2 allele to bring into model, as independent risk factors for ACI.Conclusion1 genotype frequencies had no significant difference between the ACI group and. However, the proportion of S2 carriers and S2 allele frequencies significantly higher than control group. Illustrate that The minor alleleS2,which was associated with ACI and may be one of the genetic predispositions to ACI in Chinese population.2 In HTG and NTG subgroups of ACI and control groups, genotype frequencies and allele frequencies had no significant difference. The minor alleleS2 had no significant correlation between serum triglyceride levels.3 The minor alleleS2 was associated with artherosclerosis and ACI,through other channels.4 Multivariate logistic regression analysis found that history of smoking, hypertension, diabetes is an independent risk factor for ACI, in line with the understanding of the past.5 The study found no directly correlation between obesity and ACI occurred.