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首页> 外文期刊>Journal of Physiological Anthropology >NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
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NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese

机译：NR3C1基因多态性与Han Chinese的高海拔肺水肿有关

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High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic edema which occurs in unacclimatized individuals after rapid ascent to high altitude. NR3C1 gene encodes for glucocorticoid receptor (GR) which plays an important role in stress and inflammation. This study aimed to investigate the association of NR3C1 polymorphisms with the susceptibility to HAPE in Han Chinese. The 30 SNPs in the NR3C1 gene were genotyped by the Sequenom MassARRAY SNP assay in 133 HAPE patients (HAPE-p) and 135 matched Han Chinese resistant to HAPE (HAPE-r). The genotypic and allele frequencies, odds ratios (ORs), and 95% confidence intervals (95% CIs) were calculated, respectively. The 12 SNPs showed a significant difference between the HAPE-p and HAPE-r groups. In allelic model analysis, we found that the allele "A" of rs17287745, rs17209237, rs17209251, rs6877893, and rs1866388; the allele "C" of rs6191, rs6188, and rs2918417; the allele "T" of rs33388 and rs4634384; and the allele "G" of rs41423247 and rs10052957 were associated with increased the risk of HAPE. In the genetic model analysis, we found that rs17287745, rs6191, rs6188, rs33388, rs2918417, rs6877893, rs1866388, rs41423247, rs4634384, and rs10052957 were relevant to the increased HAPE risk under the dominant model. In addition, the haplotype AACACTCAAGTG of the 12 SNPs was detected to be significantly associated with HAPE risk (OR?=?2.044, 95%CI?=?1.339~3.120, P?=?0.0008), while the haplotype GGAGCACGACCG was associated with the decreased risk of HAPE (OR?=?0.573, 95% CI?=?0.333~0.985, P?=?0.0422). Our findings provide new evidence for the association between SNPs in NR3C1 and an increased risk of HAPE in the Chinese population. NR3C1 polymorphisms are associated with the susceptibility to HAPE in Han Chinese.
机译：高海拔肺水肿（HAPE）是一种威胁性的非贲门水肿形式，在快速上升到高海拔后发生在未染色的个体中。 NR3C1基因对糖皮质激素受体（GR）的编码在压力和炎症中起重要作用。本研究旨在调查NR3C1多态性与汉族人的易感性的关联。 NR3C1基因中的30个SNP通过蛋白质Massarray SNP测定中的133名Hape患者（Hape-P）和135匹匹配的Hape（Hape-r）耐药。基因型和等位基因频率，差异比率（ORS）和95％置信区间（95％CIS）分别计算出来。 12个SNP在Hape-P和Hape-R组之间显示出显着差异。在等位基因模型分析中，我们发现RS17287745的等位基因“A”，RS17209237，RS17209251，RS6877893和RS1866388; RS6191，RS6188和RS2918417的等位基因“C”; RS33388的等位基因“T”和Rs4634384;和RS41423247的等位基因“G”和10052957的等位基因与Hape的风险有关。在遗传模型分析中，我们发现RS17287745，RS6191，RS6188，RS33388，RS2918417，RS687893，RS1866388，RS41423247，RS4634384和RS10052957与主导模型的增加的风险增加相关。此外，检测到12个SNP的单倍型aacactcaagtg与Hape风险显着相关（或？=？2.044,95％ci？=？1.339〜3.120，p？= 0.0008），而单倍型GGAGCacgaccg与之相关Hape的风险降低（或？=？= 0.573,95％ci？= 0.333〜0.985，p？= 0.0422）。我们的调查结果为NR3C1中的SNP和中国人口中的Hape风险增加了新的证据。 NR3C1多态性与Hape的易感性有关。

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