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组织蛋白酶S基因启动子区-25G/A多态不是中国人群中冠心病的预测因子
引用本文:马会利,赵吉,罗尼亚,孙爱军,王克强,邹云增,王箴,王颖,黄薇,葛均波. 组织蛋白酶S基因启动子区-25G/A多态不是中国人群中冠心病的预测因子[J]. 中国分子心脏病学杂志, 2008, 8(1): 5-8
作者姓名:马会利  赵吉  罗尼亚  孙爱军  王克强  邹云增  王箴  王颖  黄薇  葛均波
作者单位:1. 200032,上海市,复旦大学附属中山医院上海市心血管病研究所;100088,北京市,人民解放军二炮总院心内科
2. 复旦大学附属中山医院上海市心血管病研究所,上海市,200032
3. 中国南方基因组研究中心,上海市,201203
摘    要:目的这项研究的目的旨在观察中国人群中,组织蛋白酶S(CTSS)基因-25G/A多态分布及其多态性与冠心病(CAD)危险性之间的关联。方法CTSS基因-25G/A多态性由多聚酶链式反应PCR及限制性内切酶降解方法获得。经冠脉造影检查明确的共659名冠心病患者(冠脉狭窄≥50%)及352名非冠心病患者(对照组)纳入这项研究。结果所有研究对象中的等位基因G和A的频率分别为0.630及0.370。在病例组及对照组之间未发现其CTSS-25G/A多态性频率(G:0.626vs.0.633,P〉0.05;A:0.374vs.0.367,P〉0.05)及基因型分布(G:83.4VS.85.3,P〉0.05;A:58.0vs.58.5,P〉0.05)存在显著性差异。使用逻辑回归对其他危险因素校正后,CTSS基因型与冠脉狭窄严重程度之间亦未发现存在关联(P〉0.05)。结论在中国人群中,基因型AA较基因型GG和GA更为少见。对照组及冠心病组之间的等位基因频率及基因型分布均无显著性差异。CTSS-25G/A多态性与冠状动脉狭窄的发生率及严重程度不相关。

关 键 词:动脉粥样硬化  组织蛋白酶S基因  多态性

Cathepsin S gene promoter-25G/A polymorphism is not a risk factor for coronary heart disease in Chinese population
MA Hui-li,ZHAO Ji,LUO Ni-ya,SUN Ai-jun,WANG Ke-qiang,ZOU Yun-zeng,WANG Zhen,WANG Ying,HUANG Wei,GE Jun-bo. Cathepsin S gene promoter-25G/A polymorphism is not a risk factor for coronary heart disease in Chinese population[J]. Molecular Cardiology of China, 2008, 8(1): 5-8
Authors:MA Hui-li  ZHAO Ji  LUO Ni-ya  SUN Ai-jun  WANG Ke-qiang  ZOU Yun-zeng  WANG Zhen  WANG Ying  HUANG Wei  GE Jun-bo
Affiliation:MA Hui-li, ZHAO Ji , LUO Ni-ya, SUN Ai-jun, WANG Ke-qiang , ZOU Yun- zeng, WANG Zhen, WANG Ying, HUANG Wei, GE Jun-bo( 1 Department of Cardiology, Zhangshan Hospital, Fndan University; Shanghai Institute of Cardiovascular Disease, Shanghai, 200032, People' s Republic of China ;2 Department of Cardiology, The Second Artillery General Hospital of PLA, Beifing 100088, People' s Republic of China ; 3 Chinese National Human Genome Center at Shanghai, Shanghai, 201203, People' s Republic of China)
Abstract:Objective Atherosclerosis (AS) is an inflammatory disease characterized by extensive remodeling of the extracellular matrix architecture of the arterial wall. Recent data suggested the participation of lysosomal cysteine proteases such as cathepsin S(CTSS) in atherogenesis. The G/A polymorphism at nucleotide -25 was reported to locate in the promoter of the CTSS gene. Because of the importance of CTSS in atherosclerosis and the special location of G/A polymorphism, the authors supposed that CTSS -25G/A polymorphism maybe have relationship with coronary heart disease. Therefore, the aim of this study is to observe that weather CTSS -25G/A polymorphism is associated with the risk of CHD in Chinese population. Methods Polymerase chain reaction (PCR) and restriction digestion method were performed to screen the CTSS gene -25G/A polymorphism. Histories of smoking, hypertension and diabetes were investigated and blood lipids were simultaneously measured in patients with coronary heart disease (CHD, coronary artery narrow≥50 %, n = 659) and without CHD ( control, n = 352). Results The frequencies of G and A allele in the total population was 0. 630 and 0. 370 respectively. No significant difference was found in the frequencies of -25G/A polymorphism in CTSS gene ( G: 0. 626 vs. 0. 633, P 〉 0.05 ; A : 0. 374 vs. 0. 367, P 〉 0.05 ) and genotype distribution (G: 83.4 vs. 85.3, P〉0.05; A: 58.0 vs. 58.5, P〉0.05) between CHD patients and control group. Furthermore, CTSS genotype is not associated with severity of coronary stenosis
(P 〉 0.05 ), even though other risk factors were adjusted by means of logistic regression. Conclusion The genotypo AA was less common than GG and GA in this Chinese population. There was no significant difference in the allele frequencies as well as genotype distribution among the CHD and the Controls. The CTSS -25G/A polymorphism was not related with the vulnerability and the severity of coronary stenosis.
Keywords:Atherosclerosis  Cathepsin S gene  Polymorphism
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