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September 16, 2025Epidemiology Biostatistics and Public HealthOpen Access

A High-Dimensional Mediation Analysis Integrating Genomics and Epigenomics to Understand Adaptive Advantages and Health Risks of Chronic Hypoxia in Andean Highlanders

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Authors

DSDavide SaccoCMCarla MarcoLCLuciano Calzari

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Overview

Cohort analysis reveals DNA methylation mediates health responses to chronic hypoxia in Andean highlanders, suggesting genomic adaptation benefits.

Key Points

  • DNA methylation significantly mediates high altitude's effects on traits such as hemoglobin and heart rate.
  • For 24-hour heart rate, the total effect was +1.79 bpm, with 50% mediated by specific CpG sites.
  • The study utilizes high-dimensional mediation analysis to test the effect of DNA methylation on health traits.
  • Findings highlight the role of genetic and epigenetic factors in high-altitude adaptations and potential health risks.

Cite This Study

Sacco et al. (2025) studied this question.

synapsesocial.com/papers/68d42718713b0b5dfea6d339https://doi.org/10.54103/2282-0930/29585
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1DNA methylation in adaptation to high-altitude environments and pathogenesis of related diseases2025
  2. 2Whole Methylomes Reveal High-Altitude–Associated Methylation at Hypoxia and Pigmentation Genes in South American Indigenous Populations2025
  3. 3Genetic adaptations shaping survival, pregnancy, and life at high altitude and sea level2025
  4. 4Hypoxia Impacts Histone Modifications in Immune Cells2025
  5. 5GENOME-WIDE DNA METHYLATION PATTERNS ASSOCIATED WITH BLOOD PRESSURE TRAITS IN PEOPLE WITH HIV2026