中国部分汉族人群E-选择素＋G98T和＋A561C基因多态性与冠心病以及血脂水平的相关性

Association of E-selectin +G98T and +A561C gene polymorphisms with coronary heart disease and serum lipid levels in Chinese Han populations

背景:研究表明血管紧张素转换酶基因、血管紧张素受体基因等多种基因多态性与冠心病的发病及血脂水平相关。目的:实验拟观察中国部分汉族人群E-选择素基因多态性与冠心病的相关性以及对血脂水平的影响。设计、时间及地点:病例-对照观察,于2006-06/2007-08在珠海市第二人民医院和中山大学附属第五医院心内科完成。参试者:选择珠海市内几家大型医院心内科住院的冠心病患者220例,男136例,女84例,平均年龄(65±11)岁,其中心肌梗死患者48例,心绞痛患者172例,均符合1979年WHO冠心病诊断标准,排除高血压病、糖尿病及肝、肾、甲状腺疾病等。另选同期健康体检者190名作为对照组,男118例,女72例,平均年龄(63±13)岁,无心血管疾病病史,体检及心电图检查均正常。试验对象均为本地区汉族成人,无血缘关系,所有受试者均对试验知情同意。方法:采用聚合酶链反应-限制性片段长度多态性技术,检测220例冠心病患者和190例健康对照者的E-选择素+G98T和+A561C基因多态性并进行统计学比较。主要观察指标:E-选择素+G98T位点及+A561C位点各基因型GG、GT、TT和AA、AC、CC的分布。结果:E-选择素+G98T、+A561C基因型和等位基因频率在冠心病组和对照组差异均有显著性意义(P<0.05);+G98T基因GT型者罹患冠心病的风险是GG型者的1.919倍,+A561C基因AC/CC型者罹患冠心病的风险是AA型者的2.786倍。AC/CC基因、GT基因型较AA基因、GG基因型者血脂水平有增高趋势,但差异均无显著性意义(P>0.05)。结论:E-选择素+G98T、+A561C基因多态性与中国部分汉族人群冠心病的发病相关,T等位基因及C等位基因可能是冠心病发病的遗传易感基因之一;E-选择素基因多态性与血脂水平的关系有待进一步研究。

BACKGROUND： Studies reveal an association of gene polymorphism, such as angiotensin-converting enzyme and angiotensin receptor, with the onset of coronary heart disease （CHD） and the level of blood lipid. OBJECTIVE： To observe the relationship between the E-selectin gene polymorphism and the CHD, together with blood lipid level in part of Chinese Han people. DESIGN, TIME AND SETTING： A case controlled observation was carried out at the Department of Cardiology in the Second People＇s Hospital of Zhuhai and the Department of Cardiology in the Fifth Affiliated Hospital of Sun Yat-sen University from June 2006 to August 2007. PARTICIPANTS： A total of 220 CHD hospitalized patients （48 myocardial infarction patients and 172 angina pectoris patients）, average age of （65±11） years, including 136 males and 84 females, were enrolled from the Department of Cardiology in several large-scale hospitals in Zhuhai. They were diagnosed according to CHD diagnostic criteria promulgated by WHO in 1979, and the patients with hypertension, diabetes, liver, kidney or glandula thyreoidea disease were taken out. Meanwhile, 190 healthy people who accepted medical examination contemporaneously, average age of （63 ±13） years, including 118 males and 72 females were taken as the controls. The controls had no cardiovascular disease, and their results of medical examination and electrocardiogram were all normal. All the subjects were Han adults, and had no blood relationship with each other. All of them signed the informed consents to the experiment. METHODS： The E-selectin ＋G98T and ＋A561C polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism methods in 220 CHD patients and 190 healthy controls, then the statistical analysis was also conducted. MAIN OUTCOME MEASURES： The distribution of GG, GT, TT and AA, AC, CC genotypes in E-selectin ＋G98T and ＋A561C sites. RESULTS： There were significant differences in frequencies of genotype and allele in ＋G98T and ＋A561C polymorphisms between CHD and control groups （P 〈 0.05）; The relative risk suffered from CHD with GT genotype was 1.919 times of those with GG genotype, and that with AC/CC genotype was 2.786 times of those with AA genotype. Compared with the genotypes of AA and GG, the level of serum lipid in cases with AC/CC, GT genotypes tended to increase, but there was no statistical difference （P 〉 0.05）. CONCLUSION： In part of Chinese Han population, E-selectin ＋G98T and ＋A561C gene polymorphisms are associated with CHD, and T and C alleles may be a risk factor of CHD. The relationship of serum lipid levels and E-selection gene polymorphism needs much more investigations.