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Chinese Journal of Clinical Pharmacology and Therapeutics ›› 2013, Vol. 18 ›› Issue (5): 550-554.

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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   

  1. 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

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

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