Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population

Hui Gao; Jin Xu; Qiang Ma; Feng Tang; Qin Ga; Yuhong Li; Wei Guan; Ri-Li Ge; Ying-Zhong Yang

doi:10.2147/IJGM.S345495

Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population

Int J Gen Med. 2022 Jan 20:15:787-794. doi: 10.2147/IJGM.S345495. eCollection 2022.

Authors

Hui Gao^{1

2}, Jin Xu², Qiang Ma², Feng Tang¹, Qin Ga¹, Yuhong Li³, Wei Guan³, Ri-Li Ge¹, Ying-Zhong Yang^{1

2}

Affiliations

¹ Research Center for High Altitude Medical Sciences, School of Medicine, Qinghai University, Qinghai, People's Republic of China.
² Basic Medical Sciences, School of Medicine, Qinghai University, Qinghai, People's Republic of China.
³ Department of Respiration, Affiliated Hospital, Qinghai University, Qinghai, People's Republic of China.

Abstract

Purpose: Steroid hormone metabolism plays an essential role in high-altitude pulmonary edema (HAPE) progression. This study aimed to investigate the association between polymorphism in seven steroid hormone metabolism genes (STAR, HSD3B1, HSD3B2, CYP17A1, CYP21A2, CYP11B1, and CYP11B2) and HAPE susceptibility among Han Chinese.

Patients and methods: A total of 41 tagSNPs in the seven genes were genotyped using Sequenom MassARRAY SNP assays from 169 HAPE patients (HAPE-p) and 309 matched Han Chinese individuals resistant to HAPE (HAPE-r). The genotypic and allele frequencies, odds ratios (ORs), and 95% confidence intervals (95% CIs) were calculated.

Results: Four SNPs, including the allele C of rs6203 (p = 0.034, OR [95% CI] = 1.344 [1.022-1.767]) in HSD3B1, allele G of rs3740397 (p = 0.044, OR [95% CI] = 1.314 [1.007-1.714]) and allele C of rs10786712 (p = 0.039, OR [95% CI] = 0.751 [0.572-0.986]) in CYP17A1, and allele T of rs6402 (p = 0.006, OR [95% CI] = 0.504 [0.306-0.830]) in CYP11B1, were significantly associated with HAPE. The distribution of the genotypes of these SNPs also significantly differed between the HAPE-p and HAPE-r groups. Moreover, six haplotypes (the linkage disequilibrium block including rs10883783, rs4919686, rs3740397, rs3824755, and rs10786712) of CYP17A1 were also significantly associated with HAPE.

Conclusion: The four SNPs located in HSD3B1 (rs6203), CYP17A1 (rs3740397 and rs10786712), and CYP11B1 (rs6402) and the six haplotypes of CYP17A1 are likely to have an effect on HAPE.

Keywords: SNP; high-altitude pulmonary edema; steroid hormone metabolism gene; susceptibility.

Grants and funding

This work was supported by Qinghai Thousand Talents Program, The 2nd Round of “Qinghai 135 High-level Talents Training Project”, Basic Applied Study Foundation of Qinghai (2019-ZJ-7006).