Genetic polymorphisms associated with high-altitude adaptation in a Baltí population

Genetic variants may play a crucial role in human adaptation to demanding environmental conditions, i.e. high altitude. Our aim was to analyze the genotypic and allelic distribution of four genetic polymorphisms in UCP2, HIF1A, BDNF and ACTN3·genes in 40 individuals from Hushé village, Pakistán, living at higher than 3400 m above sea level and 45 individuals from the Autonomous Community of Madrid, Spain, living at almost 700 m above sea level. There were no differences in the UCP2 polymorphism rs660339. The frequency distribution of the T allele in the rs11549465 polymorphism in HIF1A gene was higher in the Madrid population (14.4%) than in those from Hushé village (3.7%). Analysis of the rs1815739 polymorphism in ACTN3 gene showed statistical differences, being the CT and TT genotypes more frequent in Madrid than in Hushé village individuals. People from Hushé village showed a significant lower frequency of the T allele in the rs6265 BDNF gene polymorphism than people from Madrid. Hushé's women more frequently showed the CC genotype for rs11549465 (HIF1A) and for rs1815739 (ACTN3) as compared with women from Madrid. As conclusion, the genetic variants located in BDNF, HIF1A and ACTN3 genes coding for proteins involved in motor skill acquisition, hypoxic adaptation and muscle power, which may play a potential role in high-altitude adaptation in the Hushé village population, particularly in women.