Effect of mitochondrial, APOE, ACE and NOS3 gene polymorphisms on cardiovascular risk factors among the Vaqueiros de Alzada, a Northern Spain human isolate

Ann Hum Biol. 2014 Jan-Feb;41(1):94-7. doi: 10.3109/03014460.2013.827738. Epub 2013 Sep 11.


Background: The Vaqueiros de Alzada are a human isolate from Asturias, a Northern Spain region. Several hypotheses have been proposed to explain the origin of Vaqueiros.

Methods and results: To determine whether the Vaqueiros and non-Vaqueiros from the same region have different genetic backgrounds, this study analysed nine mtDNA polymorphisms that define the common European mitochondrial haplogroups in a cohort of Vaqueiros (n = 60) and non-Vaqueiros (n = 110). Haplogroup H was the most frequent in Vaqueiros (42%) and non-Vaqueiros (46%). A total of 37% Vaqueiros were H1, compared to 31% of the non-Vaqueiros. This study also genotyped the two groups for three polymorphisms at the NOS3. APOE and ACE genes, that have previously been linked to risk of cardiovascular diseases. Allele and genotype frequencies did not differ between Vaqueiros and non-Vaqueiros. In addition, none of these polymorphisms were related to risk of hypertension, diabetes or hypercholesterolaemia in the two groups.

Conclusion: The data suggested that Vaqueiros share the main haplogroup distribution as their non-Vaqueiros neighbours and other Cantabrian populations. In addition, no effect of the mitochondrial, NOS3. APOE and ACE polymorphisms on cardiovascular risk factors was observed.

MeSH terms

  • Aged
  • Apolipoproteins E / genetics*
  • Apolipoproteins E / metabolism
  • Cardiovascular Diseases / epidemiology*
  • Cardiovascular Diseases / genetics
  • Female
  • Genes, Mitochondrial*
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Nitric Oxide Synthase Type III / genetics*
  • Nitric Oxide Synthase Type III / metabolism
  • Peptidyl-Dipeptidase A / genetics*
  • Peptidyl-Dipeptidase A / metabolism
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Spain / epidemiology


  • Apolipoproteins E
  • NOS3 protein, human
  • Nitric Oxide Synthase Type III
  • ACE protein, human
  • Peptidyl-Dipeptidase A