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The physiological characteristics of Andean natives living at high altitudes have been investigated extensively, with many studies reporting that Andean highlanders have a higher hemoglobin (Hb) concentration than other highlander populations. It has previously been reported that positive natural selection has acted independently on the egl-9 family hypoxia inducible factor 1 ( EGLN1 ) gene in Tibetan and Andean highlanders and is related to Hb concentration in Tibetans. However, no study has yet revealed the genetic determinants of Hb concentration in Andeans even though several single-nucleotide polymorphisms (SNPs) in  EGLN1  have previously been examined. Therefore, we explored the relationship between hematological measurements and tag SNPs designed to cover the whole  EGLN1  genomic region in Andean highlanders living in Bolivia. Our findings indicated that haplotype frequencies estimated from the  EGLN1  SNPs were significantly correlated with Hb concentration in the Bolivian highlanders. Moreover, we found that an Andean-dominant haplotype related to high Hb level may have expanded rapidly in ancestral Andean highlander populations. Analysis of genotype data in an ~436.3 kb genomic region containing  EGLN1  using public databases indicated that the population structure based on  EGLN1  genetic markers in Andean highlanders was largely different from that in other human populations. This finding may be related to an intrinsic or adaptive physiological characteristic of Andean highlanders. In conclusion, the high Hb concentrations in Andean highlanders can be partly characterized by  EGLN1  genetic variants.

Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders