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CJAP ›› 2016, Vol. 32 ›› Issue (6): 499-503.doi: 10.13459/j.cnki.cjap.2016.06.004

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Association study between the angiotensin converting enzyme gene insertion/deletion polymorphism and Qinghai Han Chinese with congenital heart disease

Jing ZHAO1,3,4,5, Lin LU2, Yong-nian LIU1, Zhan-hai SU1, Ying-zhong YANG3,4,5   

  1. 1. Qinghai University School of Medicine, Xining 810001, China;
    2. Department of Cardiac Surgery, Qinghai Cardiovascular Diseases Vocational Hospital, Xining 810012, China;
    3. Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Xining 810001, China;
    4. Basic and Applied Key Laboratory for High Altitude Medical Science and Technology of Qinghai, Xining 810001, China;
    5. Qinghai-Utah United Key Laboratory for High Altitude Medical Science, Xining 810001, China
  • Received:2016-11-11 Revised:2016-11-17 Online:2016-11-28 Published:2018-06-19

Abstract: Objective: The aim of this work is to determine whether the angiotensin converting enzyme (ACE) I/D (insertion/deletion) polymorphism is associated with the susceptibility to congenital heart disease (CHD) in the Qinghai Han Chinese. Methods: This study enrolled 59 CHD patients and 193 CHD controls from Qinghai Cardiovascular Diseases Vocational Hospital. Blood samples were collected from each of the patient and control groups. The ACE-I/D polymorphism was detected by polymerase chain reaction (PCR). Results: The genotype frequencies of ACE-I/D for Ⅱ, ID, DD in patients and controls were 0.475, 0.441, 0.085 and 0.430, 0.446, 0.124, respectively. The allelic frequencies of I and D were 0.650, 0.350 and 0.695, 0.305, respectively. The OR of ID, DD and D alleles relative to Ⅱ for CHD was 1.116 (0.604-2.060), 1.619 (0.564-4.648) and 1.211 (0.777-1.889). There was no significant difference of the genotypic and the allelic frequencies in ACE-I/D polymorphism between the patient and control groups. Conclusion: There is no relation between ACE-I/D polymorphism and CHD in current Qinghai Han Chinese.

Key words: congenital heart disease, ACE gene, insertion/deletion, polymorphism

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