Abstract

High altitude pulmonary edema (HAPE) occurs mainly under conditions such as high altitude, rapid ascent, or hypoxia. Previous studies suggest that ADRB2, GNB3, TH, and GSTP1 polymorphisms are associated with various lung diseases. We evaluated whether those polymorphisms are associated with the risk of HAPE in a Chinese Han population. ADRB2, GNB3, TH and GSTP1 polymorphisms were genotyped using a Sequenom MassARRAY. Logistic regression, adjusted for age and gender, was used to evaluate the association between the genotypes and the risk of HAPE by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). The results revealed that GNB3 rs4963516 allele ‘‘G’’ (G vs T: OR = 0.70, 95% CI = 0.55–0.90, p = 0.006) was associated with HAPE risk. The ADRB2 rs1042718 alleles had a 1.29-fold (95%CI = 1.00-1.66; p = 0.045) increased risk of HAPE, and the GSTP1 rs749174 alleles had a 0.71-fold (95%CI = 0.52-0.99; p = 0.042) decreased risk of HAPE. Co-dominant and dominant models of GNB3 rs4963516 decreased the risk of HAPE (p = 0.023 and p = 0.008, respectively). Our results indicate GNB3 and GSTP1 polymorphisms may protect against HAPE progression, while ADRB2 polymorphisms are associated with an increased risk of HAPE.

Highlights

  • High-altitude pulmonary edema (HAPE), a potentially fatal medical condition, is the cause of deaths due to high-altitude illness [1]

  • The results revealed that GNB3 rs4963516 allele ‘‘G’’ (G vs T: odds ratios (ORs) = 0.70, 95% confidence intervals (95% CIs) = 0.55– 0.90, p = 0.006) was associated with High altitude pulmonary edema (HAPE) risk

  • Our results indicate GNB3 and GSTP1 polymorphisms may protect against HAPE progression, while ADRB2 polymorphisms are associated with an increased risk of HAPE

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Summary

INTRODUCTION

High-altitude pulmonary edema (HAPE), a potentially fatal medical condition, is the cause of deaths due to high-altitude illness [1]. 0.35 0.34 0.05 0.34 0.09 0.30 0.04 0.36 0.09 0.08 0.09 0.09 0.18 0.37 0.20 p value for OR HWE test. Genetic single nucleotide polymorphisms (SNPs) play a pivotal role in high altitude diseases, including the HAPE risk [15]. We conducted a casecontrol study and identified an association of the ADRB2, GNB3, TH, and GSTP1 genes with the risk of HAPE in Chinese Han population. These results may provide a basis for the clinical prevention of HAPE

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