Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population

Moderate altitude as a risk factor for isolated congenital malformations. Results from a case–control multicenter–multiregional study

“…One is that hypoxic environments could confer a protective effect on these specific congenital malformations, as observed in the Andean and Himalayan populations concerning low birth weight due to genetic adaptation that occurred during many generations (Bigham et al, 2009;Moore, 2021;Simonson et al, 2010). Shorter-term responses in genetic pathways, as changes in gene expression, could also provide protection (Sharma et al, 2024), as recent evidence has shed light on the effects of hypobaric hypoxia on the physiological characteristics of natives living in high-altitude regions. The evidence highlights the synergistic relationship between environment and evolutionary processes, showcasing the physiological implications of genetic variants in oxygen sensing and metabolic pathway genes in high-altitude environments (Sharma et al, 2024).…”

“…Shorter-term responses in genetic pathways, as changes in gene expression, could also provide protection (Sharma et al, 2024), as recent evidence has shed light on the effects of hypobaric hypoxia on the physiological characteristics of natives living in high-altitude regions. The evidence highlights the synergistic relationship between environment and evolutionary processes, showcasing the physiological implications of genetic variants in oxygen sensing and metabolic pathway genes in high-altitude environments (Sharma et al, 2024). Otherwise, the association of specific malformations at different altitudes could be explained partially by the dissimilar ethnic backgrounds observed in the groups studied.…”