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Background <p>Exposure to high-altitude (HA) conditions is associated with an increased risk of Venous Thromboembolism (VTE) due to hypobaric hypoxia. Although genetic factors contributing to this risk have been identified, the influence of epigenetic factors, such as DNA methylation, has not been investigated in Indian populations.</p> Methods <p>This study examined the association of specific DNA methyltransferase (DNMT) single nucleotide polymorphisms (SNPs) with high-altitude–induced VTE. The research cohort included high-altitude VTE patients (HA-VTE), high-altitude acclimatized controls (HAC), high-altitude natives (HAN), sea-level VTE patients (SL-VTE), and sea-level controls (SLC). Genotyping of seven DNMT SNPs was performed using TaqMan-based real-time polymerase chain reaction (RT-PCR). Statistical analysis was carried out to assess correlation with VTE risk using odds ratios (OR) and confidence intervals (CI).</p> Results <p>DNMT3B rs2424913 was strongly associated with increased VTE risk in HA-VTE compared with both acclimatized controls and high-altitude natives. In contrast, DNMT3B rs2424908 demonstrated a clear protective effect, particularly among HA-VTE patients relative to acclimatized controls. Similarly, DNMT1 rs16999593 exhibited a protective trend when comparing acclimatized controls to high-altitude natives, while DNMT3A variants showed no significant association.</p> Conclusion <p>DNMT3B polymorphisms appear to influence susceptibility to VTE in Indian populations under hypoxic stress at high altitude, underscoring their potential as genetic markers for personalized prevention and risk prediction strategies.</p> Graphical abstract <p></p>

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Epigenetic insights into high-altitude-induced venous thromboembolism: methylation signatures in Indian population

  • 期刊论文

  • 发表日期：

    2026年3月16日

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  • Sunanda Arya,
  • Babita Kumari,
  • Rashi Khare,
  • Iti Garg,
  • Prince Pacherwal,
  • Rajneesh Kumar Joshi,
  • Rajiv Kumar,
  • Swati Srivastava

摘要

Background

Exposure to high-altitude (HA) conditions is associated with an increased risk of Venous Thromboembolism (VTE) due to hypobaric hypoxia. Although genetic factors contributing to this risk have been identified, the influence of epigenetic factors, such as DNA methylation, has not been investigated in Indian populations.

Methods

This study examined the association of specific DNA methyltransferase (DNMT) single nucleotide polymorphisms (SNPs) with high-altitude–induced VTE. The research cohort included high-altitude VTE patients (HA-VTE), high-altitude acclimatized controls (HAC), high-altitude natives (HAN), sea-level VTE patients (SL-VTE), and sea-level controls (SLC). Genotyping of seven DNMT SNPs was performed using TaqMan-based real-time polymerase chain reaction (RT-PCR). Statistical analysis was carried out to assess correlation with VTE risk using odds ratios (OR) and confidence intervals (CI).

Results

DNMT3B rs2424913 was strongly associated with increased VTE risk in HA-VTE compared with both acclimatized controls and high-altitude natives. In contrast, DNMT3B rs2424908 demonstrated a clear protective effect, particularly among HA-VTE patients relative to acclimatized controls. Similarly, DNMT1 rs16999593 exhibited a protective trend when comparing acclimatized controls to high-altitude natives, while DNMT3A variants showed no significant association.

Conclusion

DNMT3B polymorphisms appear to influence susceptibility to VTE in Indian populations under hypoxic stress at high altitude, underscoring their potential as genetic markers for personalized prevention and risk prediction strategies.

Graphical abstract