ACE基因I/D多态性与风湿性心脏病的相关性研究

中国临床药理学与治疗学 ›› 2013, Vol. 18 ›› Issue (5): 550-554.

ACE基因I/D多态性与风湿性心脏病的相关性研究

张涛¹, 郭成贤², 温纯洁¹, 周宏灏¹

¹重庆医科大学生命科学研究院,重庆 400016;
²中南大学临床药理研究所,长沙 410078,湖南

收稿日期:2012-12-06 修回日期:2013-05-02 出版日期:2013-05-26 发布日期:2013-05-22
通讯作者: 周宏灏,男,院士,研究方向:临床药理学和遗传药理学。Tel: 0731-84805380 E-mail: hhzhou2003@163.com
作者简介:张涛,女,硕士研究生,研究方向:临床药理学和遗传药理学。Tel: 0731-84805380 E-mail: 1203105341@qq.com.
基金资助:
国家自然科学基金项目(81102511)

Association of angiotensin I-converting enzyme gene insertion/deletion polymorphism with susceptibility of Rheumatic Heart Disease

ZHANG Tao¹, GUO Cheng-xian², WEN Chun-jie¹, ZHOU Hong-hao¹

¹School of Life Sciences , Chongqing Medical University,Chongqing 400016,China;
²Institute of Clinical Pharmacology, Central South University, Changsha 410078,Hunan,China

Received:2012-12-06 Revised:2013-05-02 Online:2013-05-26 Published:2013-05-22

摘要/Abstract

摘要： 目的: 探讨血管紧张素转换酶(Angiotensin converting enzyme ,ACE)基因插入/缺失(I/D)多态性与中国人风湿性心脏病(Rheumatic heart disease,RHD)易感性的关系。方法: 以病例-对照法,采用聚合酶链反应(PCR)检测246例风湿性心脏病患者和223例正常对照组的ACE基因型。病例组进一步分为二尖瓣病变组和联合瓣膜病变组,结合临床资料统计分析各组数据。结果: ACE I/D各基因型在RHD病例组和对照组分布差异无统计学意义,但病例组ACE I型等位基因频率高于对照组(70.1% vs 63.9%),差异有统计学意义(P＜0.05)。联合瓣膜病变患者组中,ACE II、ID、DD基因型频率分别为 51.8%、39.2%和 9.0%,I、D等位基因频率分别为 71.4%及 28.6%。ACE II基因型和I型等位基因在联合瓣膜病变组和对照组的分布差异均有统计学意义(P＜0.05)。结论: ACE基因I/D多态性可能与中国人风湿性心脏病的遗传易感性相关。

关键词: 风湿性心脏病, ACE基因, 基因多态性, 易感性

Abstract: AIM: To investigate the relationship between angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and rheumatic Heart disease (RHD) in Chinese patients.METHODS: Case-control study and polymerase chain reaction (PCR) were used to investigate the ACE I/D polymorphism in 246 patients with RHD and 223 normal people. Patients were further classified into those with only mitral valve lesion or combined valve lesion. Then, the relationship between ACE gene polymorphisms and susceptibility to RHD was studied.RESULTS: No significant difference was observed between the cases and control group. However, the frequency rate of I allele in the patients group was higher than that of the controls (70.1% vs 63.9%), showed a significant difference in the distribution of the ACE I allele frequencies (P<0.05). In the combined valve lesion group, the genotype frequencies of ACE genotypes I/I, I/D and D/D were 51.8%, 39.2% and 9.0% respectively. ACE I allele and D allele frequencies were 71.4% and 28.6% respectively. Both the ACE-II genotype and the ACE I allele frequencies were higher in RHD group (P<0.05).CONCLUSION: The study shows that ACE I/D gene polymorphisms is associated with development of RHD in Chinese, and ACE I allele may be a risk factor for RHD in Chinese.

Key words: Rheumatic Heart disease, ACE gene polymorphism, Gene polymorphism, Susceptibility

中图分类号:

R969

张涛, 郭成贤, 温纯洁, 周宏灏. ACE基因I/D多态性与风湿性心脏病的相关性研究[J]. 中国临床药理学与治疗学, 2013, 18(5): 550-554.

ZHANG Tao, GUO Cheng-xian, WEN Chun-jie, ZHOU Hong-hao. Association of angiotensin I-converting enzyme gene insertion/deletion polymorphism with susceptibility of Rheumatic Heart Disease[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2013, 18(5): 550-554.

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