Deep phenotyping combined with genomic, proteomic and metabolomic analyses in Kyrgyz highlanders – association with high altitude adaptation (A09)

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Disturbed production and metabolism of endogenous nitric oxide (NO) and its second messenger cGMP play a major role in vascular disorders. Translational findings from our group substantially contributed to the market authorization of cGMP-enhancing agents for treatment of different forms of pulmonary hypertension (PH). Our investigations in inhabitants of high altitudes in Tibet found no contribution of population genetics to the induction or prevention of high altitude-PH. To decipher the molecular causes of differential responses to environmental hypoxia, we will now continue our research in a larger population in the high-altitude regions of Kyrgystan, including in-depth phenotyping and “omic” analyses.