Distinct role of the CYP4F2 polymorphisms in determining the risk of HAPE among Chinese Han population

Abstract Background: CYP4F2 is potentially associated with High altitude pulmonary edema (HAPE) risk by regulating inflammatory mediator leukotriene B4 and arachidonic acid. However, the role of CYP4F2 in HAPE susceptibility remains unknown. For the first time, we conducted a case-control study to assess the potential association of CYP4F2 gene variants (rs3093193, rs12459936, rs3093144 and rs3093110) with HAPE susceptibility in Chinese Han population.Methods: The study included 238 BC patients and 230 healthy controls from northwest China. The polymorphisms selected in CYP4F2 gene were genotyped by Agena MassARRAY system. Odds ratios (ORs), 95% confidence intervals (95% CIs), and P values were used to evaluate the relationship between the two.Results: In the allele model and genotype model of the overall analysis, rs3093193 was shown to reduce the risk of HAPE (P ＜ 0.05), while rs12459936 increased susceptibility to HAPE (P ＜ 0.05). Age stratified analysis revealed that rs3093193 and rs12459936 were correlated with HAPE risk at age > 32 years (P ＜ 0.05), and rs3093193 and rs3093110 were correlated with the HAPE risk at age ≤ 32 years (P ＜ 0.05). Gender stratification analysis found that rs3093193, rs12459936 and rs3093110 were all related to HAPE risk in males (P ＜ 0.05). Haplotype analysis illuminated that GCCG and CTC could increase HAPE risk at age ≤ 32 years and males, respectively (P ＜ 0.05).Conclusions: Our research confirmed that CYP4F2 genes polymorphisms were implicated in HAPE susceptibility in Chinese Han population.