Abstract
The aim of this study is to identify genetic variants that harbour signatures of recent positive selection
and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole
genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) comparing them
to 16 Native American lowlanders. We developed a new statistical procedure using a combination
of population branch statistics (PBS) and number of segregating sites by length (nSL) to detect
beneficial alleles that arose since the settlement of the Andes and are currently present in 15–50% of
the population. We identified two missense variants as significant targets of selection. One of these
variants, located within the GPR126 gene, has been previously associated with the forced expiratory
volume/forced vital capacity ratio. The other novel missense variant mapped to the EPAS1 gene
encoding the hypoxia inducible factor 2α. EPAS1 is known to be the major selection candidate gene
in Tibetans. The derived allele of GPR126 is associated with lung function in our sample of highlanders
(p < 0.05). These variants may contribute to the physiological adaptations to hypobaric hypoxia,
possibly by altering lung function. The new statistical approach might be a useful tool to detect selected
variants in population studies.
Original language | English |
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Pages (from-to) | 1-9 |
Journal | Scientific Reports |
Volume | 7 |
Issue number | 1 |
DOIs | |
Publication status | Published - 12 Oct 2017 |
Keywords
- Hypobaric hypoxia
- Argentinean
- Native American
- EPAS1
- GPR126