Association between CYP2C19 gene polymorphisms and susceptibility to high-altitude pulmonary edema

High-altitude pulmonary edema (HAPE) is caused by the interaction of both genetic and environmental risk factors.

In this study, we aimed to explore whether three single nucleotide polymorphisms (SNPs) in CYP2C19 gene influenced the HAPE susceptibility in the Chinese Han population.

We recruited 238 cases and 230 controls between January 2018 and October 2018 from the Affiliated Hospital of Xizang Minzu University. The relationship between CYP2C19 gene polymorphisms and HAPE was studied by association analysis. Genotyping was performed using the Agena MassARRAY platform and the statistical analysis was performed using Chi-squared test, independent sample t test, genetic model analysis and haplotype analysis.

The main finding of our study showed that rs4494250 in CYP2C19 gene was associated with an increased risk of HAPE at age >32 years in the log-additive model (OR = 1.80, 95% CI = 1.05-3.09, P = 0.033). Also, it was observed to be associated with a reduced risk of HAPE at age ≤2 years in the dominant model (A/G-A/A vs G/G, OR = 0.55, 95% CI = 0.31-0.97, P = 0.038) and in the log-additive model (OR = 0.58, 95% CI = 0.35-0.96, P = 0.033).

Our findings demonstrated that CYP2C19 genetic variants were associated with risk of developing HAPE in Han Chinese population.