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: steroid hormone metabolism gene, SNP, high-altitude pulmonary edema, susceptibility