A case-control study of the genetic polymorphism of IL6 and HAPE risk in a Chinese Han population

Clin Respir J. 2018 Sep;12(9):2419-2425. doi: 10.1111/crj.12922.


Aims: The role of inflammatory cytokines in High-altitude pulmonary edema (HAPE) remains unclear. The purpose of this study was to evaluate the role of IL4 and IL6 gene polymorphism in the development of HAPE in Chinese people.

Methods: In the present study, we screened ten polymorphisms of IL4 and IL6 gene in 265 HAPE and 303 healthy volunteers. Genotypes were determined using the Sequenom MassARRAY method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression.

Results: Two single-nucleotide polymorphisms (SNPs) in the IL6 gene were significantly associated with HAPE. Rs1800796 and rs1524107 (G vs C, OR = 1.31, 95%CI = 1.01-1.69, P = .041 and T vs C, OR = 1.35, 95%CI = 1.05-1.74, P = .020, respectively). However, there did not found any association for IL4 gene.

Conclusion: Inflammatory cytokines may play a role in the progress of HAPE. These polymorphisms could be genetic markers for predicting the susceptibility to HAPE.

Keywords: IL4; IL6; case-control study; high-altitude pulmonary edema (HAPE); single-nucleotide polymorphisms (SNPs).

MeSH terms

  • Adult
  • Altitude Sickness / genetics*
  • Asian People / genetics
  • Case-Control Studies
  • Cytokines / metabolism*
  • Female
  • Genotype
  • Healthy Volunteers
  • Humans
  • Hypertension, Pulmonary / genetics*
  • Interleukin-4 / genetics
  • Interleukin-6 / genetics*
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • Predictive Value of Tests
  • Risk Assessment
  • Sequence Analysis, DNA / methods


  • Cytokines
  • IL4 protein, human
  • Interleukin-6
  • Interleukin-4

Supplementary concepts

  • Pulmonary edema of mountaineers