Association Of E-selectin+G98T,S128R Gene Polymorphisms With Coronary Heart Disease

Objective To study the distribution of the +G98T polymorphism in the exon 2 and the +A561C ( S128R) polymorphisms in the exon 4 of E-selectin gene in Hubei Hans population of China and the association with coronary heart disease (CHD), and to evaluate effect of E-selectin gen polymorphisms on the serum E-selectin and serum lipid levels in patients with coronary heart disease.Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine +G98T and S128R locus mutation polymorphisms in E-selectin gene in 225 CHD patients and 230 controls, The gene polymorphisms were confirmed by sequencing. And the serum level of E-selectin was determined by enzyme-linked immunosorbent assay(ELISA). Automated Biochemical Analyzer was used to measure the serum total cholesterol(TC), triglyceride(TG), high density lipoprotein cholesterol(HDL-C), low density lipoprotein cholesterol (LDL-C), apolipoprotein AI(apoAI) and apolipoprotein B(apoB).Results (1) E-selectin gene +G98T polymorphism was exiting in Hans population of Hubei, the frequency of E-selectin GG genotype was the highest among E-selectin genotypes (91.7%), GT genotype(8.3%), and these gene polymorphisms had no difference between male and female (P>0.05). Compared with other group, the distributions of E-selectin genotype were significantly different among other ethnic groups (P<0.05). E-selectin SSn SR gene genotypes was exiting in normal Hans population of Hubei, the frequency of E-selectin SS genotype was the highest among E-selectin genotypes (93.5%), SR genotype(6.5%), and these gene polymorphisms had no difference between male and female (P>0.05). Compared with other groups, the distributions of E-selectin genotype were significantly different among other ethnic groups (P<0.05). The variation of E-selectin gene polymorphism among different ethnic groups might account for the varied clinical spectrum of some E-selectin related diseases. (2) The levels of serum E-selectin were highersignificantly in CHD group than in control(P<0.05). (3) There was significant difference in frequencies of genotype in E-selectin S128R polymorphism between CHD and control groups respectively (x2=5.279, P<0.05) , The relative risk suffered from CHD of SS genotype was 2.121 times of the SR genotype (OR=2.121, 95%CI: 1.104~4.073) , the serum E-selectin level was significantly higher among carriers of SR genotype as compared with non-carriers(GG genotype) (42.9+8.1ug/L VS 35.7+7.7ug/L, P<0.01), There was significant difference in frequencies of allele in E-selectin gene polymorphism between CHD and control groups (x2=5.010, P<0.05, OR=2.044, 95%CI: 1.080~3.866); There was no significant difference in genotype distribution for the E-selectin gene +G98T genotype between CHD and control groups(P>0.05), but The distributions of allele and genotype in E-selectin +G98T were of significant difference between myocardial infarction and angina pectoris groups(P<0.05). There were no significant differences in the levels of serum lipids among different genotypes in either E-selectin gene locus.Conclusion E-selectin gene +G98T, S128R polymorphisms were exiting in Hans population of Hubei, and its distribution were significantly different among ethnics. E-selectin S128R polymorphism was associated with CHD and R allele may be a risk factor for CHD in Chinese. The serum E-selectin level was effected by E-selectin gene S128R polymorphism.