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

Overview

Journal Int J Gen Med

Publisher Dove Medical Press

Specialty General Medicine

Date 2022 Jan 28

PMID 35087285

Authors

Hui Gao

Jin Xu

Qiang Ma

Feng Tang

Qin Ga

Yuhong Li

Wei Guan

Ri-Li Ge

Ying-Zhong Yang

Affiliations

Soon will be listed here.

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 (, and ) 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 , 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 , and allele T of rs6402 (p = 0.006, OR [95% CI] = 0.504 [0.306-0.830]) in , 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 were also significantly associated with HAPE.

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

Citing Articles

Role of single nucleotide polymorphisms of the HSD3B1 gene (rs6203 and rs33937873) in the prediction of prostate cancer risk.

Amrousy Y, Haffez H, Abdou D, Atya H Mol Med Rep. 2022; 26(2).

PMID: 35795973 PMC: 9309536. DOI: 10.3892/mmr.2022.12787.

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