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。我们小组的转化结果大大有助于cGMP增强剂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没有发现群体遗传学对高海拔PH的诱导或预防的贡献。为了破译对环境缺氧的差异反应的分子原因，我们现在将继续在吉尔吉斯斯坦高海拔地区的更大人群中进行研究，包括深入的表型分析和“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.