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

Abstract

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.

• Cardiovascular risk
• human isolate
• mitochondrial polymorphisms
• vaqueiros

Acknowledgements

PG and EC designated the research; PG and JDC recruited the participants; JG and AIC performed the genetic analysis; EC analysed the data and wrote the manuscript. All the authors have seen and approved its submission.