Association between the IL1R2 rs2072472 polymorphism and high-altitude pulmonary edema risk.

High-altitude pulmonary edema (HAPE), as a multifactorial disease, is caused by stress failure and involves both environmental and genetic factors. Study shows that IL-1 receptors can selectively decrease the oxygen arterial hypertension and influence the blood coagulation. So we evaluated whether genetic polymorphisms in IL1R1 and 1L1R2 genes are associated with the risk of HAPE in Chinese Han population. Ten susceptible SNPs in the IL1R1 and IL1R2 genes were genotyped among 265 HAPE cases and 303 controls using the Agena MassARRAY platform. The associations of the SNP frequencies with HAPE were analyzed by chi-square (χ2 ) test/Fisher's test. The genetic models were used to evaluate associations. In the allele model, we found that rs2072472 was significantly associated with a 0.73-fold decreased risk of HAPE (OR = 0.73, 95% CI = 0.55-0.97, p = 0.033). In the genetic model analysis, the rs2072472 in IL1R2 gene was associated with a 0.32-fold decreased risk of HAPE in the codominant model, 0.67-fold decreased risk of HAPE in the dominant model, 0.36-fold decreasing the risk of HAPE in the recessive model, and 0.66-fold decreased risk of HAPE in the log-additive model, respectively. We found three candidate SNPs (rs11674595, rs4851527, and rs719250) in the IL1R2 gene have shown strong linkage, and none of the haplotypes was significantly associated with risk of HAPE. These findings suggested that IL1R2 polymorphisms may contribute to the protection of HAPE.