eNOS allelic variants at the same locus associate with HAPE and adaptation

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Abstract
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, 64 lowland controls (LLs) who had been to the same altitude two or three times and even to 5600 m, and 136 highland natives (HLs) from Leh, Ladakh (3400 m). The study groups consisted of unrelated and age matched men aged 30–40 years who had been inhabitants of their respective lands since ancient times. The HAPE patients and LLs were of the same ethnic origin and ascended in a similar manner. The diagnosis of HAPE was based on chest radiographs and other clinical symptoms. Blood samples were collected in the morning in the supine position after overnight fasting. Subjects abstained from smoking for 12 hours before sample collection. The institutional ethical committee approved the investigation and all subjects gave informed consent.

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