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eNOS allelic variants at the same locus associate with HAPE and adaptation
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  1. A Ahsan1,4,
  2. R Charu1,3,
  3. M A Q Pasha1,
  4. T Norboo2,
  5. F Afrin3,
  6. M A Baig4
  1. 1Functional Genomics Unit, Institute of Genomics and Integrative Biology, Delhi, India
  2. 2Department of Medicine, Sonam Norboo Memorial Hospital and Ladakh Heart Foundation, Leh, Ladakh, India
  3. 3Centre for Biotechnology, Hamdard University, Delhi, India
  4. 4Department of Biochemistry, Hamdard University, Delhi, India
  1. Correspondence to:
    Dr M A Q Pasha
    Functional Genomics Unit, Institute of Genomics and Integrative Biology, Delhi, India; qpashaigib.res.in

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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, …

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