Vascular endothelial growth factor-A is associated with chronic mountain sickness in the Andean population

High Alt Med Biol. 2014 Jun;15(2):146-54. doi: 10.1089/ham.2013.1121.


A study of chronic mountain sickness (CMS) with a candidate gene--vascular endothelial growth factor A (VEGFA)--was carried out in a Peruvian population living at high altitude in Cerro de Pasco (4380 m). The study was performed by genotyping of 11 tag SNPs encompassing 2.2 kb of region of VEGFA gene in patients with a diagnosis of CMS (n = 131; 49.1 ± 12.7 years old) and unrelated healthy controls (n = 84; 47.2 ± 13.4 years old). The VEGFA tag SNP rs3025033 was found associated with CMS (p < 0.05), individuals with AG genotype have 2.5 more risk of CMS compared to those with GG genotype (p < 0.02; OR, 2.54; 95% CI: 1.10-5.88). Pairwise Fst and Nei's distance indicate genetic differentiation between Cerro de Pasco population and HapMap3 population (Fst > 0.36, p < 0.01), suggesting selection is operating on the VEGF gene. Our results suggest that VEGFA is associated with CMS in long-term residents at high altitude in the Peruvian Andes.

Keywords: VEGF; association; chronic mountain sickness; genetics; high altitude.

MeSH terms

  • Adult
  • Aged
  • Altitude
  • Altitude Sickness / genetics*
  • Case-Control Studies
  • Chronic Disease
  • Female
  • Genetic Markers
  • Genotype
  • Genotyping Techniques
  • Humans
  • Male
  • Middle Aged
  • Peru
  • Polymorphism, Single Nucleotide*
  • Vascular Endothelial Growth Factor A / genetics*


  • Genetic Markers
  • Vascular Endothelial Growth Factor A