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

doi:10.13459/j.cnki.cjap.2016.06.004

中国应用生理学杂志 ›› 2016, Vol. 32 ›› Issue (6): 499-503.doi: 10.13459/j.cnki.cjap.2016.06.004

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

Jing ZHAO^1,3,4,5, Lin LU², Yong-nian LIU¹, Zhan-hai SU¹, Ying-zhong YANG^3,4,5

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

收稿日期:2016-11-11 修回日期:2016-11-17 出版日期:2016-11-28 发布日期:2018-06-19
通讯作者: Ying-zhong YANG,MD,PhD,Professor,Research Center for High Altitude Medical Sciences,Qinghai University School of Medicine,16 kunlun Road,Xining 810001,China.Tel:86-971-8175660;Fax:86-971-6142063;E-mail:yingzhong-yang@hotmail.com E-mail:yingzhong-yang@hotmail.com

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

Jing ZHAO^1,3,4,5, Lin LU², Yong-nian LIU¹, Zhan-hai SU¹, Ying-zhong YANG^3,4,5

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

摘要/Abstract

摘要： 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.

关键词: congenital heart disease, ACE gene, insertion/deletion, polymorphism

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

Jing ZHAO, Lin LU, Yong-nian LIU, Zhan-hai SU, Ying-zhong YANG. Association study between the angiotensin converting enzyme gene insertion/deletion polymorphism and Qinghai Han Chinese with congenital heart disease[J]. 中国应用生理学杂志, 2016, 32(6): 499-503.

参考文献

1. Hoffman JI, Kaplan S. The incidence of congenital heart disease[J]. J Am Coll Cardiol, 2002, 39(12):1890-1900.
2. Zhou FJ, Zhou CY, Tian YJ, et al. Diagnostic value of analysis of H-FABP, NT-proBNP, and cTnI in heart function in children with congenital heart disease and pneumonia[J]. Eur Rev Med Pharmacol SCI, 2014, 18(10):1513-1516.
3. Gurvitz M, Burns KM, Brindis R, et al. Emerging Research Directions in Adult Congenital Heart Disease:A Report From an NHLBI/ACHA Working Group[J]. J Am Coll Cardiol, 2016, 67(16):1956-1964.
4. Huang GY. Screening index and clinical value of congenital heart disease[J]. Chin J Pract Pediatr, 2013, 28(7):503-504.
5. Cedars AM. Invited Commentary:The specialty of adult congenital heart disease[J]. Proc (Bayl Univ Med Cent), 2016, 29(2):174-175.
6. Zhang L. The pathogenesis of congenital heart disease[J]. Chin J Eugenics Hered, 2008, 16(3):1-4.
7. Nora JJ, Nora AH. The evolution of specific genetic and environmental counseling in congenital heart disease[J]. Circulation, 1978, 57(2):205-213.
8. Chaix MA, Andelfinger G, Khairy P. Genetic testing in congenital heart disease:A clinical approach[J]. World J Cardiol, 2016, 8(2):180-191.
9. Alazhary NM, Morsy MM, Al-Harbi KM. Angiotensin-converting enzyme gene insertion deletion (ACE I/D) polymorphism in Saudi children with congenital heart disease[J]. Eur Rev Med Pharmacol Sci, 2015, 19(11):2026-2030.
10. Hibi S, Goto Y, Ando T, et al. No association between angiotensin I converting enzyme (ACE) I/D polymorphism and gastric cancer risk among Japanese[J]. Nagoya J Med Sci, 2011, 73(3-4):169-175.
11. Rigat B, Hubert C, Alhenc-Gelas F, et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels[J]. J Clin Invest, 1990, 86(4):1343-1346.
12. Tiret L, Rigat B, Visvikis S, et al. Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels[J]. Am J Hum Genet, 1992, 51(1):197-205.
13. Villard E, Tiret L, Visvikis S, et al. Identification of new polymorphisms of the angiotensin I-converting enzyme (ACE) gene, and study of their relationship to plasma ACE levels by two-QTL segregation-linkage analysis[J]. Am J Hum Genet, 1996, 58(6):1268-1278.
14. Sakuma T, Hirata RD, Hirata MH. Five polymorphisms in gene candidates for cardiovascular disease in Afro-Brazilian individuals[J]. J Clin Lab Anal, 2004, 18(6):309-316.
15. Li M, Cleves MA, Mallick H, et al. A genetic association study detects haplotypes associated with obstructive heart defects[J]. Hum Genet, 2014, 133(9):1127-1138.
16. Wu TY, Ge RL, Xiao SJ, et al. Epidemiological study on children with congenital heart disease in Qinghai-Tibet Plateau[J]. J Cardiovasc Pulm Dis, 1990, 9(3):131-135.
17. Hasan A. Relationship of high altitude and congenital heart disease[J]. Indian Heart J, 2016, 68(1):9-12.
18. Born GV, Dawes GS, Mott JC, et al. The constriction of the ductus arteriosus caused by oxygen and by asphyxia in newborn lambs[J]. J Physiol, 1956, 132(2):304-342.
19. Yang YZ, Cao Y, Jin GE, et al. Molecular cloning and characterization of hemoglobin alpha and beta chains from plateau pika (Ochotona curzoniae) living at high altitude[J]. Gene, 2007, 403(1-2):118-124.
20. de Divitiis M, Pilla C, Kattenhorn M, et al. Ambulatory blood pressure, left ventricular mass, and conduit artery function late after successful repair of coarctation of the aorta[J]. J Am Coll Cardiol, 2003, 41(12):2259-2265.
21. Sekuri C, Cam FS, Ercan E, et al. Renin-angiotensin system gene polymorphisms and premature coronary heart disease[J]. J Renin Angiotensin Aldosterone Syst, 2005, 6(1):38-42.
22. Liu Y, Zhou WY, Hou SQ, et al. Association analysis of polymorphisms of ace gene and agt gene with essential hypertension in chinese han's population[J]. Chin Med Sci J, 1998, 13(2):71-76.
23. Patel S, Woods DR, Macleod NJ, et al. Angiotensinconverting enzyme genotype and the ventilatory response to exertional hypoxia[J]. Eur Respir J, 2003, 22(5):755-760.
24. Bigham AW, Kiyamu M, León-Velarde F, et al. Angiotensin-converting enzyme genotype and arterial oxygen saturation at high altitude in Peruvian Quechua[J]. High Alt Med Biol, 2008, 9(2):167-178.
25. Gesang L, Liu G, Cen W, et al. Angiotensin-converting enzyme gene polymorphism and its association with essential hypertension in a Tibetan population[J]. Hypertens Res, 2002, 25(3):481-485.
26. Rupert JL, Hochachka PW. Genetic approaches to understanding human adaptation to altitude in the Andes[J]. J Exp Biol, 2001, 204(Pt 18):3151-3160.
27. Raleigh SM. Last word on viewpoint:epigenetic regulation of the ACE gene might be more relevant to endurance physiology than the I/D polymorphism[J]. J Appl Physiol, 2012, 112(6):1086-1088.
28. Droma Y, Hanaoka M, Basnyat B, et al. Adaptation to high altitude in Sherpas:association with the insertion/deletion polymorphism in the Angiotensin-converting enzyme gene[J]. Wilderness Environ Med, 2008, 19(1):22-29.
29. Zhang R, Wu Y, Zhao M, et al. Role of HIF-1alpha in the regulation ACE and ACE2 expression in hypoxic human pulmonary artery smooth muscle cells[J]. Am J Physiol Lung Cell Mol Physiol, 2009, 297(4):L631-640.
30. Liu SM, Hu L, Liu FY. The angiotensin-converting enzyme gene polymorphism in Qinghai Plateau children with congenital heart disease[J]. High Alt Med, 2012, 22(3):7-9.
31. Alazhary NM, Morsy MM, Al-Harbi KM. Angiotensin-converting enzyme gene insertion deletion (ACE I/D) polymorphism in Saudi children with congenital heart disease[J]. Eur Rev Med Pharmacol Sci, 2015, 19(11):2026-2030.

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

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

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