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. 2017 Sep 19;34(12):3154–3168. doi: 10.1093/molbev/msx239

Fig. 1.

Fig. 1.

Geographic locations, genetic admixture, and phenotypic characterization of samples collected. (A) Location of the studied population (altitude >4,300 m asl, Cerro de Pasco) in Andean Altiplano of South America. Inset: Map locations of Peru. (B) ADMIXTURE analysis (Chr. 19) using three reference populations, AFR (150 individuals), EUR (150 individuals), both from 1000 Genomes project and a Native American population, NATAM (100 individuals) from Reich et al. (2012). Although MXL (a lowland control population from 1000 Genomes project) and the Andean populations (CMS and nonCMS) have a significant NATAM ancestry; however, MXL has higher European ancestry compared with the Andeans. (C) PCA plots of the Andean (CMS and nonCMS) population projected on MXL controls and the reference populations and (D) PCA plot of CMS versus nonCMS suggested that both CMS and nonCMS cluster together, and are genetically closest to NATAM (E) Hematocrit (%) level versus the CMS score. High hematocrit is the major phenotypic characteristic for the high CMS score. (C) Adjusted CMS score (as mentioned in Results and Methods) further demarcate CMS from nonCMS subjects.