Figure 3: Pathogenic mutations were highly enriched in Tibetan highlanders.
From: MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders
(A) Pathogenic mutations occurred far more frequently in 22 highlander-specific lineages (five lineages carrying two pathogenic variants and six lineages carrying one) (P = 4.87 × 10−8). (B) Possible pathogenic mutations in Tibetan highlanders were significantly higher than those in East Asians from 1000 Genomes Projects (P = 1.89 × 10−4). (C) Nonsynonymous/synonymous ratio (N/S) in haplogroups of highlanders and all the 36,914 sequences respectively. (D) N/S comparison between internal branches (1 ≤ ρ ≤ 4) of highlanders and all the 36,914 sequences.
