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

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.