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Basically you’re getting a value which describes allele frequency differences normalized to the expected genetic distance as known from population history. It’s what you’d expect, the Danes are the outgroup.Over time genetic difference builds up because of separation between the groups.Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude.The exome is just the protein-coding part of the genome; so they’re focusing ostensibly on functionally relevant single nucleotide polymorphisms (SNPs).If the Tibetans and Han diverged ~3,000 years ago, then those adaptations may be recent and would have emerged through rapid allele frequency changes (though they observe that it may be drawn from standing variation).The researchers didn’t go looking for EPAS1 is also known as hypoxia-inducible factor 2 (HIF-2).

This SNP’s association with erythrocyte abundance supports the role of EPAS1 in adaptation to hypoxia.

Associations between SNPs at EPAS1 and athletic performance have been demonstrated…Our data set contains a different set of SNPs, and we conducted association testing on the SNP with the most extreme frequency difference, located just upstream of the sixth exon.

Alleles at this SNP tested for association with blood-related phenotypes showed no relationship with oxygen saturation.

In other words, an effective population size is a statistic which is bundling together a lot of evolutionary history, and is not a simple measure of perceived census sizes (the Tibetans may also be something of a melange of a diverse set of ancient groups which took refuge in the highlands, while the Han are the descendants of early adopters of agriculture which expanded demographically; so they’re opposite ends of the demographic tunnel).

The time of divergence of a little under 3,000 years is important for the rest of the paper, so I suppose other workers had better replicate their findings in the future.




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