端粒延长解旋酶1（RTEL1）基因与高原肺水肿风险的关联：一项病例对照研究。
Association between regulator of telomere elongation helicase1 (RTEL1) gene and HAPE risk: A case-control study.
作者信息
Rong Hao, He Xue, Zhu Linhao, Zhu Xikai, Kang Longli, Wang Li, He Yongjun, Yuan Dongya, Jin Tianbo
机构信息
Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi School of Life Science, Northwest University, Xi'an, China.
出版信息
Medicine (Baltimore). 2017 Sep;96(39):e8222. doi: 10.1097/MD.0000000000008222.
High altitude pulmonary edema (HAPE) is a paradigm of pulmonary edema. Mutations in regulator of telomere elongation helicase1 (RTEL1) represent an important contributor to risk for pulmonary fibrosis. However, little information is found about the association between RTEL1 and HAPE risk. The present study was undertaken to tentatively explore the potential relation between single-nucleotide polymorphisms (SNPs) in RTEL1 and HAPE risk in Chinese Han population. A total of 265 HAPE patients and 303 healthy controls were included in our case-control study. Four SNPs in RTEL1 were selected and genotyped using the Sequenom MassARRAY method. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated by unconditional logistic regression with adjustment for gender and age. All P values were Bonferroni corrected, and statistical significance was set at P < .0025 (.05/20). In allelic model analysis, we found that the allele "G" of rs6089953 and rs6010621 and the allele "A" of rs2297441 were associated with decreased risk of HAPE. In the genetic model analysis, we found that rs6010621, rs6089953, and rs2297441 were relevant to decreased HAPE risk under dominant model (rs6010621: OR = 0.55; 95% CI = 0.39-0.78; P = .001; rs6089953: OR = 0.68; 95% CI = 0.48-0.96; P = .027; rs2297441: OR = 0.63; 95% CI = 0.45-0.89; P = .008, respectively) and additive model (rs6010621: OR = 0.51; 95% CI = 0.46-0.81; P < .001; rs6089953: OR = 0.72; 95% CI = 0.55-0.95; P = .022; rs2297441: OR = 0.73; 95% CI = 0.57-0.95; P = .019, respectively). SNPs rs6010621 remained significant after Bonferroni correction (P < .0025). In addition, haplotype "GG, GT, AT" of rs6089953-rs6010621 were detected significantly associated with HAPE risk (P < .05), haplotype "GG" remained significant after Bonferroni correction (P < .0025). Our findings provide new evidence for the association between SNPs in RTEL1 and a decreased risk HAPE in the Chinese population. The results need further confirmation.
高原肺水肿（HAPE）是肺水肿的一个范例。端粒延长解旋酶1（RTEL1）的突变是肺纤维化风险的一个重要因素。然而，关于RTEL1与HAPE风险之间的关联，所知甚少。本研究旨在初步探讨RTEL1中的单核苷酸多态性（SNP）与中国汉族人群HAPE风险之间的潜在关系。我们的病例对照研究共纳入了265例HAPE患者和303例健康对照。选择RTEL1中的4个SNP，并使用Sequenom MassARRAY方法进行基因分型。通过无条件逻辑回归计算比值比（OR）和95%置信区间（95%CI），并对性别和年龄进行调整。所有P值均进行Bonferroni校正，设定统计学显著性为P<0.0025（0.05/20）。在等位基因模型分析中，我们发现rs6089953和rs6010621的等位基因“G”以及rs2297441的等位基因“A”与HAPE风险降低相关。在遗传模型分析中，我们发现rs6010621、rs6089953和rs2297441在显性模型（rs6010621：OR=0.55；95%CI=0.39-0.78；P=0.001；rs6089953：OR=0.68；95%CI=0.48-0.96；P=0.027；rs2297441：OR=0.63；95%CI=0.45-0.89；P=0.008）和加性模型（rs6010621：OR=0.51；95%CI=0.46-0.81；P<0.001；rs6089953：OR=0.72；95%CI=0.55-0.95；P=0.022；rs2297441：OR=0.73；95%CI=0.57-0.95；P=0.019）下与HAPE风险降低相关。经Bonferroni校正后，SNP rs6010621仍具有显著性（P<0.0025）。此外，rs6089953-rs6010621的单倍型“GG、GT、AT”与HAPE风险显著相关（P<0.05），单倍型“GG”经Bonferroni校正后仍具有显著性（P<0.0025）。我们的研究结果为RTEL1中的SNP与中国人群中HAPE风险降低之间的关联提供了新证据。结果需要进一步证实。
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