Jl. Rupert et al., Angiotensin-converting enzyme (ACE) alleles in the Quechua, a high altitude South American native population, ANN HUM BIO, 26(4), 1999, pp. 375-380
Recently it was reported that an allelic variant of the gene encoding angio
tensin-converting enzyme (ACE) was significantly over-represented in a coho
rt of elite British mountaineers. It was proposed that this may be evidence
for a specific genetic factor influencing the human capacity for physical
performance. The implication that this allele could enhance performance at
high altitude prompted us to determine its frequency in Quechua speaking na
tives living at altitudes greater than 3000 m on the Andean Altiplano in So
uth America. We found that the frequency of the putative performance allele
in the Quechuas, although significantly higher than in Caucasians, was not
different from lowland Native American populations. This observation sugge
sts that, although the higher frequency of the 'performance allele' may hav
e facilitated the migration of the ancestral Quechua to the highlands, the
ACE insertion allele has not been subsequently selected for in this high al
titude population.