摘要
目的 研究中国汉族人群E 选择素 (E selectin)基因第 2外显子G98T和第 4外显子S12 8R多态性与冠心病 (CHD)的相关性 ,以及对血清E selectin水平的影响。方法 采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术 ,检测 2 38例CHD患者和 199例健康人作对照者的E selectin基因多态性 ,同时采用酶联免疫吸附试验 (ELISA)检测CHD患者和对照者血清E selectin水平。结果 E selectin基因S12 8R基因型频率和等位基因频率在CHD组和对照组比较差异有显著性(P <0 0 5 ) ,基因型频率的相对风险分析发现 ,SR基因型携带者患冠心病的风险是SS基因型的 2 16 2倍 (OR =2 16 2 ,95 %CI:1 0 73～ 4 35 9) ,SR基因型携带者的E selectin血清水平显著高于SS基因型(4 2 9± 8 1比 35 7± 7 7,P <0 0 1)。E selectinG98T各基因型分布在CHD组和对照组之间比较差异无显著性 (P >0 0 5 ) ,但在心肌梗死组与心绞痛组间比较差异有显著性 (P <0 0 5 )。结论 E selectinS12 8R基因多态性与冠心病的发病有关联 ,并可影响血清E selectin水平 ,R等位基因可能是CHD发病的遗传易感基因 ;E selectin基因G98T多态性在冠心病发病中可能不起直接重要作用。
Objective To study the association between the G98T polymorphism in the exon 2 and the S128R polymorphism in the exon 4 of E selectin gene and coronary heart disease (CHD) in Chinese Han peoples, and to evaluate the effect of E selectin gene polymorphisms on the serum E selectin level in patients with coronary heart disease Methods The genotypes of E selectin were detected by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) methods in 238 CHD patients and 199 healthy controls.The serum level of E selectin was determined by enzyme linked immunosorbent assay(ELISA). Results There was significant difference in frequencies of allele and genotype in S128R polymorphism between CHD and control groups respectively. The relative risk suffered from CHD with SR genotype was 2 162 times of those with SS genotype( OR =2 162,95% CI :1 073～4 359), the serum E selectin level was significantly higher among carriers of SR genotype as compared with non carriers(SS genotype) (42 9±8 1 vs 35 7±7 7, P <0 01) There was no significant difference in genotype distribution for the E selectin gene G98T polymorphism between CHD and control groups( P >0 05), but the distribution of allele and genotype in E selectin G98T was of significant difference between myocardial infarction and angina pectoris groups( P <0 05). Conclusions E selectin S128R polymorphism is associated with CHD, its polymorphism may affect the serum E selectin level, and R allele may be a risk factor for CHD. The polymorphism of E selectin gene G98T may not play an important and direct role in the pathogenesis of CHD
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2004年第3期229-232,共4页
Chinese Journal of Cardiology
基金
湖北省自然科学基金项目 ( 2 0 0 3ABA183 )
