摘要
目的:研究中国汉族人群诱导型一氧化氮合酶(NOS2A)基因启动子区-2.5kb微卫星CCTTT串联重复序列多态与急性冠状动脉综合征(ACS)的相关性。方法:应用微卫星分析技术,检测CCTTT微卫星多态在117例ACS患者和125名健康对照者中的频率分布。结果:根据CCTTT微卫星多态对NOS2A基因转录水平的影响,将CCTTT串联重复序列分为S(重复次数≤13)和L(重复次数>13)2类,基因型分布在ACS组(S/S=48,S/L=64,L/L=5)和对照组(S/S=56,S/L=49,L/L=20)间存在显著差异(χ2=11.354,P=0.003)。对照组的L/L基因型频率显著高于ACS组,r为0.234(95%CI=0.085～0.647,P=0.003),可能具有保护性作用。分层研究发现,女性ACS与对照组相比,基因型分布存在显著差异(χ2=8.134,P=0.017)。结论:NOS2A基因启动子区CCTTT微卫星多态可能与中国汉族ACS,尤其与女性患者的遗传易感性有关。
Objective To study the correlation between the microsatellite polymorphism （CCTTT）n repeats in the promoter of inducible nitric oxide synthase （NOS2A） gene（-2.Skb） and acute coronary syndrome （ACS） in Chinese Han population. Methods Genotyping for the variance was performed by polymerase chain reaction （PCR） and automated Genescan analysis in 117 ACS patients and 125 healthy controls. Results The alleles were divided into 2 subclasses, class S including shorter （≤ 13） repeats and class L including longer （〉13） repeats. The distribution of （CCTTT）n repeats showed statistical difference between ACS group （S/S=48, S/L=64, L/L=5） and controls （S/S=56, S/L=49, L/L=20） （X^2= 11.354, P=0.003）. In addition, significant differences in （CCTTT）n repeats genotype frequencies were found between female ACS patients and normal controls （X^2=10.39, P=0.006 and X^2=g.134, P=0.017,respectively）. In this study, the patients with L/L were less likely to have ACS. The odds ratio for homozygote L/L was 0.234 （95%CI=0.085-0.647 ,P= 0.003）. Conclusions Microsatellite polymorphism （CCTTT）n in the promoter of NOS2A gene may be associated with the susceptibility to ACS in Chinese Hans, especially in female populations.
出处
《诊断学理论与实践》
2006年第3期214-216,共3页
Journal of Diagnostics Concepts & Practice
基金
国家自然科学基金(项目编号:30500576)
上海市青年科技启明星计划(项目编号:06QA14033)
上海市优秀青年医学人才培养计划资助
