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 differences 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, MTHFR, FII and FVL of the coagulation cascade, to describe the presence of cardiovascular-related variants in a mestizo group of the Chilean people.
  
  
  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; MTHFR, 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 differences in relation to other South American populations.
authors.forename: Angela
authors.initials: A
authors.lastname: Roco
authors.forename: Luis A
authors.initials: LA
authors.lastname: Quiñones
authors.forename: Pablo
authors.initials: P
authors.lastname: Sepúlveda
authors.forename: Hernán
authors.initials: H
authors.lastname: Donoso
authors.forename: Carolina
authors.initials: C
authors.lastname: Lapostol
authors.forename: Romina
authors.initials: R
authors.lastname: Alarcón
authors.forename: María E
authors.initials: ME
authors.lastname: Torres
authors.forename: Paulo C
authors.initials: PC
authors.lastname: Véliz
authors.forename: Guillermo
authors.initials: G
authors.lastname: Acuña
authors.forename: Oscar
authors.initials: O
authors.lastname: Wilke
authors.forename: Cristián
authors.initials: C
authors.lastname: Acevedo
mesh_terms: D000328:Adult; D002318:Cardiovascular Diseases / Q000208:ethnology / Q000235:genetics*; D002677:Chile / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D064368:Healthy Volunteers; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D055815:Young Adult
keywords: ACE; Apo E; FII; FVL; MTHFR; PAI-1; Polymorphism; cardiovascular disease