title: Analysis of population genetic structure from Bucaramanga (Colombia) based on gene polymorphisms associated with the regulation of blood pressure.
abstract: BACKGROUND
  In spite of nearly 40% of variability in blood pressure being explained by genetic factors, the identification of genes associated with essential high blood pressure is difficult to determine in populations where individuals have different genetic backgrounds. In these circumstances it is necessary to determinate whether the population is sub-structured because this can bias studies associated with this disease.
  
  
  OBJECTIVE
  TO DETERMINE THE GENETIC STRUCTURE OF THE POPULATION IN BUCARAMANGA FROM GENETIC POLYMORPHISMS ASSOCIATED WITH THE REGULATION OF BLOOD PRESSURE: 448G>T, 679C>T y 1711C>T from the gene kinase 4 of the dopaminergic receptor linked to the protein G and Glu298Asp, -786T>C and the VNTR of the intron 4 of the gene of endothelial nitric oxide.
  
  
  METHODS
  A sample of 552 unrelated individuals was studied through analysis of restriction fragment length polymorphism. The allelic, haplotypic and genotypic frequencies were calculated, the Hardy-Weinberg equilibrium was determined and a molecular analysis of variance was performed to determine the genetic structure.
  
  
  RESULTS
  Thirty-eight (38) Haplotypes were identified with GCCTG4b being the most frequent (21.2%). The most diverse polymorphism was 448G>T with a frequency of 49.9% for heterozygous. The six polymorphisms were found in genetic equilibrium and a genetic structure of populations was not evidenced (FST= 0.0038).
  
  
  CONCLUSIONS
  The population studied does not present a genetic sub-structure and the polymorphisms analyzed were found in genetic equilibrium. This indicates that the population mixes randomly and there are no sub-groups capable of affecting the results of the association studies.
authors.affiliation: School of Medicine, Universidad Industrial de Santander ; School of Biology, Universidad Industrial de Santander.
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: León
authors.affiliation: School of Medicine, Universidad Industrial de Santander ; School of Biology, Universidad Industrial de Santander.
authors.forename: Fernando
authors.initials: F
authors.lastname: Rondón
authors.affiliation: School of Medicine, Universidad Industrial de Santander ; Genetic Laboratory, Universidad Industrial de Santander.
authors.forename: Clara Inés
authors.initials: CI
authors.lastname: Vargas
authors.affiliation: School of Medicine, Universidad Industrial de Santander ; Epidemiological Observatory for Cardiovascular Disease, Universidad Industrial de Santander.
authors.forename: Myriam
authors.initials: M
authors.lastname: Oróstegui
authors.affiliation: School of Medicine and Public Health, University of Wisconsin.
authors.forename: Leonelo
authors.initials: L
authors.lastname: Bautista
authors.affiliation: Biomedical Research Center, Universidad Autónoma de Bucaramanga.
authors.forename: Norma Cecilia
authors.initials: NC
authors.lastname: Serrano
authors.affiliation: Biomedical Research Center, Universidad Autónoma de Bucaramanga.
authors.forename: María C
authors.initials: MC
authors.lastname: Páez
authors.affiliation: School of Medicine, Universidad Industrial de Santander ; Genetic Laboratory, Universidad Industrial de Santander.
authors.forename: Adriana
authors.initials: A
authors.lastname: Castillo
keywords: GRK4 gene; Polymorphisms; blood pressure; eNOS gene; haplotype GCCTG4b