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Genetic Evidence for High-Altitude Adaptation in Tibet - Coggle Diagram
Genetic Evidence for High-Altitude Adaptation in Tibet
Tibetans
Positively selected halotypes of EGLN1 and PPARA
associated with decrease hemoglobin (Hb) phenotype
traits
decreased arterial oxygen content, increased resting ventilation, lack of hypoxic pulmonary vasoconstriction, lower incidence of reduced birth weight, and reduced hemoglobin concentration
Neighboring Han Chinese individuals
traits
increased Hb concentration
Intersecting criteria to identify genes
candidates for adaptation to high altitude hypoxia were chosen because of their known functions
genome wide scan was conducted to identify regions that show strong evidence of local positive selection in high altitude Tibetans
Genes
Hypoxia-inducible factor (HIF)
major transcriptional regulator of oxygen homeostasis
Stepwise linear regression tests
EGLN1 and PPARA both show significant negative correlations with Hb concentration
strong significant association between Hb concentration and halotype variation at EGLN1 and PPARA provide evidence of genetic contribution adaptation
correlation between ELGN1 and decreased Hb concentration lies in the regualation HIF and its target genes
Genome wide regression analysis
showed no excess of associations
Implications
prevention and treatment of mountain sickeness, high-altitude pulmonary and cerebral edema, and other hypoxia-related diseases
increase our understanding of genetic adaptation to high-altitude environments
results
suggests that high-altitude adaptation in Tibetans has resulted from local positive selection on several distinct genes
The cross-population extended halotype homozygosity (XP-EHH) and Integrated halotype score (iHS) tests
both have substantial statistical power to detect natural selection using genome wide SNP genotypes