TY - JOUR T1 - eNOS allelic variants at the same locus associate with HAPE and adaptation JF - Thorax JO - Thorax SP - 1000 LP - 1002 DO - 10.1136/thx.2004.029124 VL - 59 IS - 11 AU - A Ahsan AU - R Charu AU - M A Q Pasha AU - T Norboo AU - F Afrin AU - M A Baig Y1 - 2004/11/01 UR - http://thorax.bmj.com/content/59/11/1000.2.abstract N2 - High altitude pulmonary oedema (HAPE) is a severe form of altitude illness that may develop in individuals on rapid ascent to altitudes above 2500 m.1 The disease is characterised by hypoxia induced pulmonary vasoconstriction caused by endothelial dysfunction and intravascular fluid retention.2,3 While some families and individuals are at risk, those with a long ancestry at high altitude have a lower risk. Moreover, individuals who have had HAPE are at a greater risk of repeat events. Such data support a strong genetic component to HAPE susceptibility, perhaps associated with a founder effect. It is likely that long term exposure to high altitude provides a natural positive adaptive pressure to alleles that prevent the illness. We hypothesise that allelic variants at the same locus in a gene are involved in adaptation and HAPE. We therefore investigated the Glu298Asp and 4b/4a polymorphisms of the endothelial nitric oxide synthase gene (eNOS) and −344T/C, intron-2 conversion and Lys173Arg polymorphisms of the aldosterone synthase gene (CYP11B2) in 59 patients with HAPE who developed the disease at 3400 m, … ER -