Association between the IL1R2 rs2072472 polymorphism and high-altitude pulmonary edema risk
Association between the IL1R2 rs2072472 polymorphism and high-altitude pulmonary edema risk
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IL1R2 rs2072472多态性与高原肺水肿风险的关联
DOI：
10.1002/mgg3.542
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发表时间：
2019-03-01
影响因子：
2
通讯作者：
He, Yongjun
中科院分区：
文献类型：
--
作者：
Jin, Tianbo;Zhu, Linhao;He, Yongjun
目的高原肺水肿（HAPE）是一种由应激衰竭引起的多因素疾病，涉及环境和遗传因素。研究表明，IL-1受体可选择性降低氧性动脉高血压，影响血液凝固。因此，我们评估了IL1R1和1L1R2基因的遗传多态性是否与中国汉族人群HAPE的风险相关。方法采用Agena MassARRAY平台对265例HAPE患者和303例对照患者进行IL1R1和IL1R2基因的10个易感snp分型。采用卡方检验/Fisher检验分析SNP频率与HAPE的相关性。遗传模型用于评估关联。结果在等位基因模型中，我们发现rs2072472与HAPE风险降低0.73倍显著相关（OR = 0.73, 95% CI = 0.55-0.97, p = 0.033）。遗传模型分析中，IL1R2基因rs2072472与共显性模型中HAPE风险降低0.32倍、显性模型中HAPE风险降低0.67倍、隐性模型中HAPE风险降低0.36倍、对数加性模型中HAPE风险降低0.66倍相关。我们在IL1R2基因中发现了三个候选snp （rs11674595、rs4851527和rs719250）具有很强的连锁性，并且没有一个单倍型与HAPE风险显著相关。结论IL1R2多态性可能参与HAPE的保护作用。
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 (chi(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.