Endothelial Nitric Oxide Synthase Polymorphisms Do Not Influence Pulmonary Artery Systolic Pressure at Altitude

Smith, Eve M.D., J. Kenneth Baillie, A.A. Roger Thompson, John B. Irving, David Porteous, and David J. Webb. Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude. High Alt. Med. Biol. 7:221–227, 2006.—Previous genetic association studies in high-risk subjects have suggested that polymorphisms in the gene encoding endothelial nitric oxide synthase (eNOS) may be associated with susceptibility to high altitude pulmonary edema (HAPE). We aimed to determine whether eNOS polymorphisms influence systolic pulmonary artery pressure measurements (PASP) in healthy trekkers ascending to high altitude. We examined two polymorphisms of the eNOS gene in Caucasian volunteers: Glu298Asp variant and 27-base pair (bp) variable number of tandem repeats polymorphism (27-bp VNTR). In 33 subjects, the relationships between polymorphisms and absolute pulmonary artery systolic pressure measurements (PASP), determined by echocardiography, were assessed at sea level and 1, 3, and 7 days after acute ascent by vehicle transport to 5200 m. As expected, there was a significant rise in pulmonary artery pressure on ascent to high altitude. By contrast, at sea level and at each time point at high altitude, no difference was found in mean PASP according to eNOS polymorphism. We found no association of Glu298Asp and 27-bp VNTR polymorphisms in the eNOS gene with PASP in a population of healthy trekkers at low or high altitude.