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Editorial
. 2025 Feb;110(2):185-188.
doi: 10.1113/EP091877. Epub 2024 Sep 19.

Chasing genes at high-altitude

Samantha Sharma  1 , Qadar Pasha  2
Affiliations
Editorial

Chasing genes at high-altitude

Samantha Sharma et al. Exp Physiol. 2025 Feb.
No abstract available

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Conflict of interest statement

None declared.

Figures

FIGURE 1
FIGURE 1
Genotype–phenotype mechanisms in high‐altitude adaptation. (a) Genome‐wide association study (GWAS) comparing the native high‐altitude (highlanders; >2400 m) and low‐altitude (lowlanders; <500 m) populations identify SNPs linked to high‐altitude adaptation. (b) Validation of SNPs in a larger cohort of high‐altitude natives specifically from Nubra valley (3048 m), Sakti (SKT) (3812 m) and Tso Moriri villages (4522 m), along with the lowlanders. Evidence of selection of adaptive SNPs within genes like EGLN1, EPAS1, SPRTN, ADH6, COQ7, NAPG and others. (c) Pathway enrichment analysis using KEGG pathways followed by eQTL analysis confirms the functional SNPs. Clinical and biochemical data supported altitude‐dependent trends, with adaptive alleles correlating significantly with these parameters. (d) Comprehensive studies integrating genomics, transcriptomics, proteomics and metabolomics are essential for a deeper understanding of high‐altitude adaptation in worldwide populations.
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