NR3C2基因与汉族人群高原肺水肿易感性相关。

NR3C2 Gene is Associated with Susceptibility to High-Altitude Pulmonary Edema in Han Chinese.

作者信息

Yang Yingzhong, Xu Jin, Tang Feng, Ga Qin, Li Yuhong, Guan Wei, Ge Ri-Li

机构信息

Research Center for High Altitude Medical Sciences, School of Medicine, Qinghai University, Qinghai, China (Drs Yang, Tang, Ga, and Ge); Basic and Applied Key Laboratory for High Altitude Medical Science and Technology of Qinghai, Qinghai, China (Drs Yang, Tang, Ga, and Ge); Qinghai-Utah United Key Laboratory for High Altitude Medical Science, Qinghai, China (Drs Yang, Tang, Ga, and Ge).

Basic Medical Sciences, School of Medicine, Qinghai University, Qinghai, China (Dr Xu).

出版信息

Wilderness Environ Med. 2018 Dec;29(4):488-492. doi: 10.1016/j.wem.2018.07.006. Epub 2018 Oct 3.

DOI:10.1016/j.wem.2018.07.006

PMID:30292562

Abstract

INTRODUCTION

The mineralocorticoid receptor is encoded by the NR3C2 gene and plays an important role in regulating vascular tone in high-altitude pulmonary edema (HAPE). This study aimed to investigate the association of the polymorphisms in the NR3C2 gene with HAPE susceptibility in Han Chinese.

METHODS

We enrolled 133 HAPE patients and 131 matched healthy Han Chinese from the Yushu area in Qinghai, where the altitude is greater than 3500 m. Two single nucleotide polymorphisms (SNPs) of the NR3C2 gene, rs2070951 and rs5522, were genotyped by the Sequenom MassARRAY SNP assay.

RESULTS

The genotypic distributions and allele frequencies of NR3C2 SNP rs5522 were significantly different between the HAPE and control groups (P<0.05). The frequency of the A allele of rs5522 was significantly higher in the HAPE group than in the control group (P<0.05) with an odds ratio of 1.7 (95% CI: 1.0-2.8). There were no significant differences in the genotypic distributions and allele frequencies of NR3C2 SNP rs2070951 between the HAPE and control groups. The frequencies of the C-A and C-G haplotypes were significantly higher in the HAPE group than in control group.

CONCLUSIONS

The rs5522 polymorphism of the NR3C2 gene was associated with HAPE susceptibility in Chinese subjects. The A allele may contribute to the susceptibility to HAPE. The frequency of the C-A and C-G haplotypes of rs2070951 and rs5522 in the NR3C2 gene may increase the risk of HAPE.

摘要

引言

盐皮质激素受体由NR3C2基因编码，在高原肺水肿（HAPE）中调节血管张力方面发挥重要作用。本研究旨在探讨NR3C2基因多态性与中国汉族人群HAPE易感性的关联。

方法

我们招募了133例HAPE患者和131例来自青海玉树地区海拔高于3500米的匹配健康汉族对照。采用Sequenom MassARRAY SNP检测法对NR3C2基因的两个单核苷酸多态性（SNP）rs2070951和rs5522进行基因分型。

结果

HAPE组和对照组之间NR3C2 SNP rs5522的基因型分布和等位基因频率存在显著差异（P<0.05）。rs5522的A等位基因频率在HAPE组中显著高于对照组（P<0.05），优势比为1.7（95%CI：1.0 - 2.8）。HAPE组和对照组之间NR3C2 SNP rs2070951的基因型分布和等位基因频率无显著差异。HAPE组中C - A和C - G单倍型的频率显著高于对照组。