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

内源性一氧化氮(NO)及其第二信使cGMP的产生和代谢紊乱在血管疾病中起重要作用。我们小组的翻译发现极大地促进了cGMP增强剂用于治疗不同形式的肺动脉高压(PH)的市场授权。我们对西藏高海拔地区居民的调查发现，群体遗传学对高海拔PH的诱发和预防没有贡献。为了破译对环境低氧的不同反应的分子原因，我们现在将继续在吉尔吉斯斯坦高海拔地区的更大群体中进行研究，包括深入的表型和“组学”分析。

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.