Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population

Angela Roco, Luis A. Quiñones, Pablo Sepúlveda, Hernán Donoso, Carolina Lapostol, Romina Alarcón, María E. Torres, Paulo C. Véliz, Guillermo Acuña, Oscar Wilke, Cristián Acevedo

Resultado de la investigación: Article

1 Cita (Scopus)

Resumen

Objective Among the genetic factors associated with cardiovascular disease (CVD), determining polymorphic genotypes could help to understand the appearance of the illness. Ethnic diff erences in these polymorphisms could explain population variability in susceptibility to CVD. The main goal of this research is to study the presence of more relevant genetic variants of ApoE, CETP, ACE, PAI-1, MT.HFR, FII and FVL of the coagulation cascade, to describe the presence of cardiovascular-related variants in a mestizo group of the Chilean people. Methods and results The studied population comprised 146 unrelated subjects from the general population, diagnosed as healthy, who were genotyped through conventional and/or real-time PCR. The allele frequencies for the Chilean population were: Apo E, ε2: 0.036, ε3: 0.875 and ε4: 0.089; CETP, B1: 0.51 and B2: 0.49; MT.HFR, C: 0.52 and T: 0.48; ACE, I: 0.603 and D: 0.397; PAI-1, 4G: 0.381 and 5G: 0.619; FII, G: 0.97 and A: 0.03, and FV Leiden, G: 0.97 and A: 0.03. Conclusions This study contributes to establish a first picture in the Chilean mestizo population about the frequencies of these variants, which could act as single or complementary risk factors to trigger CVD. The obtained allele frequencies show great diff erences in relation to other South American populations.

Idioma originalEnglish
Páginas (desde-hasta)528-535
Número de páginas8
PublicaciónActa Cardiologica
Volumen70
N.º5
DOI
EstadoPublished - 1 ene 2015
Publicado de forma externa

Huella dactilar

Genetic Polymorphisms
Population
Cardiovascular Diseases
Plasminogen Activator Inhibitor 1
Gene Frequency
Apolipoprotein E2
Apolipoproteins E
Real-Time Polymerase Chain Reaction
Genotype
Research

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Citar esto

Roco, A., Quiñones, L. A., Sepúlveda, P., Donoso, H., Lapostol, C., Alarcón, R., ... Acevedo, C. (2015). Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population. Acta Cardiologica, 70(5), 528-535. https://doi.org/10.2143/AC.70.5.3110513
Roco, Angela ; Quiñones, Luis A. ; Sepúlveda, Pablo ; Donoso, Hernán ; Lapostol, Carolina ; Alarcón, Romina ; Torres, María E. ; Véliz, Paulo C. ; Acuña, Guillermo ; Wilke, Oscar ; Acevedo, Cristián. / Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population. En: Acta Cardiologica. 2015 ; Vol. 70, N.º 5. pp. 528-535.
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title = "Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population",
abstract = "Objective Among the genetic factors associated with cardiovascular disease (CVD), determining polymorphic genotypes could help to understand the appearance of the illness. Ethnic diff erences in these polymorphisms could explain population variability in susceptibility to CVD. The main goal of this research is to study the presence of more relevant genetic variants of ApoE, CETP, ACE, PAI-1, MT.HFR, FII and FVL of the coagulation cascade, to describe the presence of cardiovascular-related variants in a mestizo group of the Chilean people. Methods and results The studied population comprised 146 unrelated subjects from the general population, diagnosed as healthy, who were genotyped through conventional and/or real-time PCR. The allele frequencies for the Chilean population were: Apo E, ε2: 0.036, ε3: 0.875 and ε4: 0.089; CETP, B1: 0.51 and B2: 0.49; MT.HFR, C: 0.52 and T: 0.48; ACE, I: 0.603 and D: 0.397; PAI-1, 4G: 0.381 and 5G: 0.619; FII, G: 0.97 and A: 0.03, and FV Leiden, G: 0.97 and A: 0.03. Conclusions This study contributes to establish a first picture in the Chilean mestizo population about the frequencies of these variants, which could act as single or complementary risk factors to trigger CVD. The obtained allele frequencies show great diff erences in relation to other South American populations.",
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Roco, A, Quiñones, LA, Sepúlveda, P, Donoso, H, Lapostol, C, Alarcón, R, Torres, ME, Véliz, PC, Acuña, G, Wilke, O & Acevedo, C 2015, 'Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population', Acta Cardiologica, vol. 70, n.º 5, pp. 528-535. https://doi.org/10.2143/AC.70.5.3110513

Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population. / Roco, Angela; Quiñones, Luis A.; Sepúlveda, Pablo; Donoso, Hernán; Lapostol, Carolina; Alarcón, Romina; Torres, María E.; Véliz, Paulo C.; Acuña, Guillermo; Wilke, Oscar; Acevedo, Cristián.

En: Acta Cardiologica, Vol. 70, N.º 5, 01.01.2015, p. 528-535.

Resultado de la investigación: Article

TY - JOUR

T1 - Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population

AU - Roco, Angela

AU - Quiñones, Luis A.

AU - Sepúlveda, Pablo

AU - Donoso, Hernán

AU - Lapostol, Carolina

AU - Alarcón, Romina

AU - Torres, María E.

AU - Véliz, Paulo C.

AU - Acuña, Guillermo

AU - Wilke, Oscar

AU - Acevedo, Cristián

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Objective Among the genetic factors associated with cardiovascular disease (CVD), determining polymorphic genotypes could help to understand the appearance of the illness. Ethnic diff erences in these polymorphisms could explain population variability in susceptibility to CVD. The main goal of this research is to study the presence of more relevant genetic variants of ApoE, CETP, ACE, PAI-1, MT.HFR, FII and FVL of the coagulation cascade, to describe the presence of cardiovascular-related variants in a mestizo group of the Chilean people. Methods and results The studied population comprised 146 unrelated subjects from the general population, diagnosed as healthy, who were genotyped through conventional and/or real-time PCR. The allele frequencies for the Chilean population were: Apo E, ε2: 0.036, ε3: 0.875 and ε4: 0.089; CETP, B1: 0.51 and B2: 0.49; MT.HFR, C: 0.52 and T: 0.48; ACE, I: 0.603 and D: 0.397; PAI-1, 4G: 0.381 and 5G: 0.619; FII, G: 0.97 and A: 0.03, and FV Leiden, G: 0.97 and A: 0.03. Conclusions This study contributes to establish a first picture in the Chilean mestizo population about the frequencies of these variants, which could act as single or complementary risk factors to trigger CVD. The obtained allele frequencies show great diff erences in relation to other South American populations.

AB - Objective Among the genetic factors associated with cardiovascular disease (CVD), determining polymorphic genotypes could help to understand the appearance of the illness. Ethnic diff erences in these polymorphisms could explain population variability in susceptibility to CVD. The main goal of this research is to study the presence of more relevant genetic variants of ApoE, CETP, ACE, PAI-1, MT.HFR, FII and FVL of the coagulation cascade, to describe the presence of cardiovascular-related variants in a mestizo group of the Chilean people. Methods and results The studied population comprised 146 unrelated subjects from the general population, diagnosed as healthy, who were genotyped through conventional and/or real-time PCR. The allele frequencies for the Chilean population were: Apo E, ε2: 0.036, ε3: 0.875 and ε4: 0.089; CETP, B1: 0.51 and B2: 0.49; MT.HFR, C: 0.52 and T: 0.48; ACE, I: 0.603 and D: 0.397; PAI-1, 4G: 0.381 and 5G: 0.619; FII, G: 0.97 and A: 0.03, and FV Leiden, G: 0.97 and A: 0.03. Conclusions This study contributes to establish a first picture in the Chilean mestizo population about the frequencies of these variants, which could act as single or complementary risk factors to trigger CVD. The obtained allele frequencies show great diff erences in relation to other South American populations.

KW - ACE

KW - Apo E

KW - Cardiovascular disease

KW - FII

KW - FVL

KW - MTHFR

KW - PAI-1

KW - Polymorphism

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Roco A, Quiñones LA, Sepúlveda P, Donoso H, Lapostol C, Alarcón R y otros. Prevalence of seven cardiovascular-related genetic polymorphisms in a chilean mestizo healthy population. Acta Cardiologica. 2015 ene 1;70(5):528-535. https://doi.org/10.2143/AC.70.5.3110513