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Updated: May 29, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
EPAS1 and VEGFA Polymorphisms Modulate COPD Susceptibility in a High-Altitude Population: A Case-Control Study
Summary
Genetic variations in EPAS1 and VEGFA influence Chronic Obstructive Pulmonary Disease (COPD) risk in high-altitude populations. Specific EPAS1 and VEGFA polymorphisms are linked to COPD susceptibility in these unique environmental conditions.
Area of Science:
- Genetics
- Environmental Health
- Pulmonology
Background:
- Chronic Obstructive Pulmonary Disease (COPD) development is influenced by genetic and environmental factors.
- High-altitude persistent hypoxia is a significant environmental stressor impacting COPD.
- EPAS1 gene expression and its target VEGFA under hypoxia are key but not fully understood.
Purpose of the Study:
- To investigate the association between EPAS1 and VEGFA gene polymorphisms and COPD susceptibility in high-altitude populations.
- To evaluate specific SNP associations in Tibetan and Han Chinese populations.
Main Methods:
- A case-control study was conducted in Gansu Province.
- EPAS1 gene polymorphisms (rs4953354, rs6743991, rs7589861, rs13419896) were analyzed in 517 COPD patients and 580 controls.
- VEGFA gene polymorphisms (rs10434, rs2010963, rs3025020, rs833070) were analyzed in 397 patients and 807 controls from Tibetan and Han populations.
Main Results:
- EPAS1 rs4953354 A>G polymorphism was associated with decreased COPD risk (OR=0.680 for AG vs AA).
- In Han Chinese, VEGFA rs2010963 C>G and rs3025020 C>T increased COPD risk (e.g., OR=1.670 for rs2010963 CG+GG vs CC).
- In Tibetans, VEGFA rs3025020 C>T was associated with decreased COPD risk (OR=0.571 for CT+TT vs CC).
Conclusions:
- EPAS1 and VEGFA gene polymorphisms are significantly associated with COPD susceptibility in high-altitude dwellers.
- These findings highlight the role of specific genetic variations in COPD pathogenesis under hypoxic conditions.
- Population-specific effects of VEGFA polymorphisms were observed in Han and Tibetan groups.
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