Aim
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.
Methods
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 (χ
2
) test/Fisher's test. The genetic models were used to evaluate associations.
Results
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.
Conclusion
These findings suggested that
IL1R2
polymorphisms may contribute to the protection of HAPE.