Revista Colombia Médica
Universidad del Valle - Facultad de Salud
Vol. 43, No. 2, 2012, pp. 155-162
Bioline Code: rc12023
Full paper language: English
Document type: Research Article
Document available free of charge
Revista Colombia Médica, Vol. 43, No. 2, 2012, pp. 155-162
© Copyright 2012 Colombia Médica
Analysis of population genetic structure from Bucaramanga (Colombia) based on gene polymorphisms associated with regulation of blood pressure|
León, Francisco Javier; Rondón, Fernando; Vargas, Clara Inés; Oróstegui, Myriam; Bautista, Leonelo; Serrano, Norma Cecilia; Páez, María c. & Castillo, Adrianna
Introduction: In spite nearly 40% of the variability in blood pressure can be explained by genetic factors, the identification
of genes associated to essential high blood pressure is diffcult in populations where individuals have different genetic
precedents; in these circumstances it is necessary to determinate whether the population is sub-structured because
this can bias studies associated with this disease.
Objectives: 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
Methodology: 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: 38 Haplotypes were identified, with GCCTG4b as 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
genetic structure of populations was not evidenced (FST = 0,0038).
Conclusion: 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.
High blood pressure essence, Complex disease, GRK4, eNOS, Polymorphisms, Populations genetics.
Alternative site location: http://colombiamedica.univalle.edu.co