He Yongjun, Liu Lijun, Xu Pengcheng, He Na, Yuan Dongya, Kang Longli, Jin Tianbo
Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China.
Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China.
Oncotarget. 2017 Mar 14;8(11):18206-18212. doi: 10.18632/oncotarget.15309.
High altitude pulmonary edema (HAPE) occurs mainly under conditions such as high altitude, rapid ascent, or hypoxia. Previous studies suggest that ADRB2, GNB3, TH, and GSTP1 polymorphisms are associated with various lung diseases. We evaluated whether those polymorphisms are associated with the risk of HAPE in a Chinese Han population. ADRB2, GNB3, TH and GSTP1 polymorphisms were genotyped using a Sequenom MassARRAY. Logistic regression, adjusted for age and gender, was used to evaluate the association between the genotypes and the risk of HAPE by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). The results revealed that GNB3 rs4963516 allele ''G'' (G vs T: OR = 0.70, 95% CI = 0.55-0.90, p = 0.006) was associated with HAPE risk. The ADRB2 rs1042718 alleles had a 1.29-fold (95%CI = 1.00-1.66; p = 0.045) increased risk of HAPE, and the GSTP1 rs749174 alleles had a 0.71-fold (95%CI = 0.52-0.99; p = 0.042) decreased risk of HAPE. Co-dominant and dominant models of GNB3 rs4963516 decreased the risk of HAPE (p = 0.023 and p = 0.008, respectively). Our results indicate GNB3 and GSTP1 polymorphisms may protect against HAPE progression, while ADRB2 polymorphisms are associated with an increased risk of HAPE.
高原肺水肿（HAPE）主要发生在高原、快速上升或缺氧等情况下。先前的研究表明，ADRB2、GNB3、TH和GSTP1基因多态性与多种肺部疾病有关。我们评估了这些基因多态性是否与中国汉族人群患HAPE的风险相关。使用Sequenom MassARRAY对ADRB2、GNB3、TH和GSTP1基因多态性进行基因分型。通过计算优势比（OR）和95%置信区间（95%CI），采用经年龄和性别调整的逻辑回归来评估基因型与HAPE风险之间的关联。结果显示，GNB3 rs4963516等位基因“G”（G与T：OR = 0.70，95%CI = 0.55 - 0.90，p = 0.006）与HAPE风险相关。ADRB2 rs1042718等位基因患HAPE的风险增加1.29倍（95%CI = 1.00 - 1.66；p = 0.045），而GSTP1 rs749174等位基因患HAPE的风险降低0.71倍（95%CI = 0.52 - 0.99；p = 0.042）。GNB3 rs4963516的共显性和显性模型降低了HAPE的风险（分别为p = 0.023和p = 0.008）。我们的结果表明，GNB3和GSTP1基因多态性可能预防HAPE进展，而ADRB2基因多态性与HAPE风险增加有关。
