Table 1.
Genes identified via association with a hypoxia-tolerance phenotype
| Study | Phenotype | Population(s) | Assay | Gene Candidates |
|---|---|---|---|---|
| Simonson et al. (39) | Hb | Tibet (n = 31) | Genotyping array (Affymetrix 6.0) | EPAS1, PPARA |
| Yi et al. (47) | Hb, erythrocyte | Tibet (n = 50) | Exome sequence (NimbleGen) | EPAS1 |
| Beall et al. (6) | Hb | Tibet (n = 70)Tibet (n = 91) | Genotyping array(Illumina 0.5M) | EPAS1 |
| Scheinfeldt et al. (37) | Hb | Ethiopia (n = 42) | Genotyping array(Illumina 1M) | ARNT2, THRB |
| Alkorta-Aranburu et al. (1) | Hb, O2 saturation | Ethiopia (n = 260)Amhara (102H, 60L)Oromo (63H, 35L) | Genotyping array (Illumina) | RORA*COL6A1*SLC30A9* HGF* |
*
Not genome-wide significant after multiple testing correction. H and L, high- and low-altitude individuals, respectively.