结合珠蛋白基因多态性与急性冠脉综合征的相关性研究

Association between haptoglobin polymorphism and acute coronary syndrome in Chinese

目的 探讨结合珠蛋白（Hp）基因多态性与急性冠脉综合征（ACS）易感性的关系.方法 采用病例对照研究,选择2005年3月至2006年12月浙江大学医学院附属第二医院心内科住院并行冠脉造影检查证实的ACS患者112例（包括急性心肌梗死57例、不稳定性心绞痛55例）和同期年龄、性别匹配的健康体检者124例.采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测所有受试者Hp基因型,探讨Hp基因多态性与ACS发生的关系.用Hardy-Weinberg平衡检验样本群体代表性;各组基因型和等位基因频率差异比较采用x2检验,并以比值比（OR）及其95%可信区间（95%CI）表示相对的风险度;综合评价ACS危险性采用多因素Logistic回归分析;以P＜0.05为差异具有统计学意义.结果 ACS组Hp基因型分布与对照组相比差异具有统计学意义（P=0.003）,表现为ACS组的Hp2-2基因型频率明显高于对照组（0.571 vs.0.355,P=0.001;OR=2.419,95%CI1.427～4.100）,Hp2等位基因的频率也明显高于对照组（0.759 vs.0.616,P=0.001;OR=1.965,95%CI1.316～2.934）.同时,多因素Logistic回归分析表明Hp2-2基因型是ACS的独立危险因素（P=0.002;OR=2.557,95%CI：1.410～4.639）.结论 Hp2-2基因型与ACS的发生密切相关,可能是ACS发病的独立危险因子;Hp2等位基因可能是ACS的遗传易感基因.

Objective To assess the association of Haptoglobin（Hp） polymorphism with acute coronary syndrome（ACS） in Chinese. Method A total of 112 patients with ACS including 57 patients with acute myocardial infarction and 55 patients with unstable angina pectoris confirmed with angiography and 121healthy controls were recruited in this study. Polymerase chain reaction （PCR） method was utilized to genotype Hpl and Hp2 alleles and genotype frequencies in cases and controls were compared. All polymorphisms were test of Hardy-Weinberg equilibrium in both groups separately. The differences of genotypes and alleles between two groups were analyzed with x2 test. The association between Hp polymorphism and the risk of ACS was estimated by odds ratio （OR） and their 95% confidence intervals （95% CI）, and the comprehensive evaluation of the factors associated with ACS were determined by using multivariate logistic regression analysis. P 〈0.05 was considered to be statistically significant. Results The frequency of Hp2-2 genotype was significantly higher in ACSs than in controls （0. 571 vs. 0. 355, P = 0. 001; OR = 2. 419, 95% CI：1. 427 ～4. 100）, multivariate Logistic regression analysis indicates that Hp2-2 genotype is an independent risk factor to ACS （P = 0.002; OR = 2.557,95% CI： 1. 392 - 4.637）. Similarly, the Hp2 allele frequency in ACS groups was significantly higher than that in the control subjects （0. 759 vs. 0. 616, P =0.001; OR = 1. 965,95% CI 1. 316 ～2. 934）. Conclusion The Hp2-2 genotype is associated with ACS in Chinese. Hp2-2 genotype may be an independent risk factor to ACS, and Hp2 allele may be a genetic susceptibility factor to ACS in Chinese.