Prevalence of I/D polymorphism of the angiotensin converting enzyme (ACE) gene in Montevideo
Keywords:
POLYMORPHISM (GENETICS), GENETIC PREDISPOSITION TO DISEASE, CONTINENTAL POPULATION GROUPS, URUGUAY
Abstract
New technologies of molecular biology applied to genetic diagnosis and molecular markers allow the influence of personal and familial predisposition to certain diseases. The first step of this study was to determine the prevalence of these markers.
A population of 108 randomly assigned people out of 500 representative samples of a DNA bank from the Citology Department of the Instituto de Investigaciones Biológicas Clemente Estable (IIBCE, Biological Research Centre Clemente Estable) was studied.
Genotype of angiotensin-converting enzyme (ACE) gene was determined using an amplified DNA fragment of intron 16 by polymerase chain reaction technique. Predominant genotype was I/D genotype (50.9%), D/D (30.6%) and I/I (18.5%).
Results suggest a predominant D allele, comparing to I allele in the Montevideo population, showing significant differences with American and Asian population.
References
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2) Crispino B, Mimbacas A, Cardoso H, Cabezas E. Fibrosis Quística: ¿se presenta de la misma forma en el Uruguay que en el viejo mundo?. Rev Med Uruguay 1994; 10(1): 29-33.
3) Crispino B, Cardoso H, Luzardo G, Mimbacas A, Aznarez I, Martínez ML, et al. Identificación de mutaciones del gen CFTR presentes en pacientes fibroquísticos provenientes de la población uruguaya. Arch Pediatr Urug 1996; 67(1): 37-41.
4) Mimbacas A, González S, Cardoso H, Poggio R, Javiel G, García S, et al. Alelos HLA-DQ y diabetes mellitus tipo I en el Uruguay. Rev Med Uruguay 1998; 14(3): 216-20.
5) Mimbacas A, Pérez-Bravo F, Hidalgo P, Javiel G, Pisciottano C, Grignola R, et al. Association between diabetes type 1 and DQB1 alleles in a case-control study conducted in Montevideo, Uruguay. Genet Mol Res 2003; 2(1): 29-35.
6) Mimbacas A, Pérez-Bravo F, Santos JL, Pisciottano C, Grignola R, Javiel G, et al. The association between HLA DQ genetic polymorphism and type 1 diabetes in a case-parent study conducted in an admixed population. Eur J Epidemiol 2004; 19(10): 931-4.
7) Poggio Favotto R, Mimbacas A, Crispino B, Jasinski C, Cardoso H. Alelos HLA-DQB1 y DRB1 asociados con la enfermedad celíaca en pacientes hospitalarios. Rev Med Uruguay 2001; 17(2): 107-13.
8) Hubert C, Houot AM, Corvol P, Soubrier F. Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene. J Biol Chem 1991; 266(23): 15377-83.
9) Crisan D, Carr J. Angiotensin I-converting enzyme. J Mol Diagn 2000; 2(3): 105-15.
10) Thomas GN, Tomlinson B, Chan JC, Sanderson JE, Cockram CS, Critchley JA. Renin-angiotensin system gene polymorphisms, blood pressure, dyslipidemia, and diabetes in Hong Kong Chinese: a significant association of the ACE insertion/deletion polymorphism with type 2 diabetes. Diabetes Care 2001; 24(2): 356-61.
11) Hsieh MC, Lin SR, Hsieh TJ, Hsu CH, Chen HC, Shin SJ, et al. Increased frequency of angiotensin converting enzyme DD genotype in patients with type 2 diabetes in Taiwan. Nephrol Dial Transplant 2000; 15(7): 1008-13.
12) Frechtel GD, Taverna MJ, López AP. Genética molecular de la diabetes y sus complicaciones. 3º Edición, Buenos Aires: Akadia, 2003: 61-103.
13) Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 1990; 86(4): 1343-6.
14) Davis GK, Roberts DH. Molecular genetics of the renin-angiotensin system: implications for angiotensin II receptor blockade. Pharmacol Ther 1997; 75(1): 43-50.
15) Curto S. Mortalidad por enfermedades cardiovasculares en el Uruguay: Actualización de datos correspondientes al año 2002. CHSCV 2003; 5(1): 8-11.
16) Cardoso H, Crispino B, Mimbacas A, Cardoso ME. A low prevalence of cystic fibrosis in Uruguayans of mainly European descent. Genet Mol Res 2004; 3(2): 258-63.
17) Feng Y, Niu T, Xu X, Chen C, Li Q, Qian R, et al. Insertion/deletion polymorphism of the ACE gene associated with type 2 diabetes. Diabetes 2002; 51(6): 1986-8.
18) Rupert JL, Kidd KK, Norman LE, Monsalve MV, Hochachka PW, Devine DV. Genetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American Populations. Ann Hum Genet 2003; 67(Pt 1): 17-25.
19) Sunder-Plassmann G, Kittler H, Eberle C, Hirschl MM, Woisetschläger C, Derhaschnig U, et al. Angiotensin converting enzyme DD genotype is associated with hypertensive crisis. Crit Care Med 2002; 30(10): 2236-41.
20) Danser AH, Schalekamp MA, Bax WA, van den Brink AM, Saxena PR, Riegger GA, et al. Angiotensin-converting enzyme in the human heart: effect of the deletion/insertion polymorphism. Circulation 1995; 92(6): 1387-8.
21) Benetos A, Gautier S, Ricard S, Topouchian J, Asmar R, Poirier O, et al. Influence of angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms on aortic stiffness in normotensive and hypertensive patients. Circulation 1996; 94(4): 698-703.
22) Sans M, Salzano FM, Chakraborty R. Historical genetics in Uruguay: estimates of biological origins and their problems. Hum Biol 1997; 69(2): 161-70.
Published
2006-03-31
How to Cite
1.
Zorrilla P, Mimbacas A, Gascue C, Javiel G, Cardoso H. Prevalence of I/D polymorphism of the angiotensin converting enzyme (ACE) gene in Montevideo. Rev. Méd. Urug. [Internet]. 2006Mar.31 [cited 2024Nov.23];22(1):17-1. Available from: http://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/779
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Original Articles
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