细胞间黏附分子-1基因多态性与冠心病相关性研究

目的:研究细胞间黏附分子-1(ICAM-1)469K/E及241G/R多态性位点等位基因分布频率及其与冠心病(CHD)的关系。方法:选择197例湖北地区健康汉族人(对照组)及103例CHD患者(CHD组),应用等位基因特异性PCR(巢式PCR),对每个个体的基因型进行鉴定。同时,采用酶法、免疫比浊法及酶联免疫吸附试验对研究对象血脂和ICAM-1水平进行检测。结果:2组间除性别、年龄及体质指数无明显差异外,其他各项指标如吸烟、总胆固醇、三酰甘油(TG)、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、ICAM-1均差异有统计学意义(P<0·01);241R等位基因的分布频率分别为0·039及0·030,因其频率太低,无法建立其与血脂及CHD间的联系;469K/E位点,CHD组稀有等位基因E的频率明显高于对照组(χ2=4·549,P<0·05),KK、KE、EE3种基因型在2组中的分布差异有统计学意义(χ2=6·313,P<0·05),且2组中KK、KE、EE3种基因型的TG与ICAM-1水平差异有统计学意义(P<0·01)。结论:ICAM-1469E等位基因与CHD患者TG及ICAM-1水平升高有关,可能是该地区人群CHD的危险因子。

Association between intercellular adhesion molecule-1 gene polymorphism and coronary heart disease

Objective:To observe the relationship between intercellular adhesion molecule-1(ICAM-1) gene 469K/E and 241G/R polymorphism and coronary heart disease(CHD). Method:The ICAM-1 polymorphism of 103 patients with CHD and 197 normal controls were genotyped by allele-specific oligonucleotide polymerase chain reaction techniques. The plasma concentration of lipids and ICAM-1 of the subjects were measured by enzymatic method, immunonephelometry and ELISA. Result:Genotype distribution was in accordance with Hardy-Weinberg equilibrium.Allele frequencies of R was 0.030 and 0.039 in CHD and control group, respectively, whereas the distribute frequency is too small to establish the relationship between the site of ICAM-1 241G/R gene polymorphism and CHD. The genotype frequencies of 469KK, KE, EE were 36.9%, 43.7%, 19.4% and 51.8%, 31.7% , 16.5% in CHD patients and controls, respectively. Allele frequencies of K, E were 58.7%, 41.3% and 61.5% , 38.5% in CHD patients and controls, respectively (P<0.05). The plasma TG and ICAM level of E carriers were distinctively higher than those of E-noncarriers (P<0.05).Conclusion:The ICAM-1 469E allele is associatied with the high level of plasma TG and ICAM-1 and 469K/E polymorphism has a relationship with CHD, suggesting that E allele may be a genetic risk factor of CHD.