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At Altitude

Natural selection targeting a particular gene may enable the Quechua of Peru to better tolerate the thin air of the Andes Mountains, Ars Technica reports.

Previous genome-wide association studies had implicated variants in the EGLN1 gene, which encodes an O2 sensor that governs HIF-α levels, which, in turn, regulate the cellular response to hypoxia. This led researchers from the US and Peru to examine whether there were any genetic associations between EGLN1 variants and higher aerobic capacity in hypoxia in Quechua and white lowlanders. As they report in the Proceedings of the National Academy of Sciences, the researchers found five EGLN1 SNPs linked to higher aerobic capacity in hypoxia and that four of these SNPs were more common among Quechua.

"These results, along with previous statistical genetic evidence of natural selection on EGLN1, support the hypothesis of genetic adaptation in Quechua via the selection of genetic variants conferring an advantage with respect to work/exercise performance at altitude," the researchers write in their paper.

Ars Technica additionally notes that alterations affecting this gene have also been uncovered among Tibetans.