中国汉族人群中类固醇激素代谢基因多态性与高原肺水肿的关联

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

作者信息

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

机构信息

Research Center for High Altitude Medical Sciences, School of Medicine, Qinghai University, Qinghai, People's Republic of China.

Basic Medical Sciences, School of Medicine, Qinghai University, Qinghai, People's Republic of China.

出版信息

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

DOI:10.2147/IJGM.S345495

PMID:35087285

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8787081/

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.

摘要

目的

类固醇激素代谢在高原肺水肿（HAPE）进展中起重要作用。本研究旨在探讨7个类固醇激素代谢基因（、和）的多态性与中国汉族人群HAPE易感性之间的关联。

患者与方法

使用Sequenom MassARRAY SNP检测法对169例HAPE患者（HAPE-p）和309例匹配的对HAPE有抵抗力的中国汉族个体（HAPE-r）进行7个基因中总共41个标签单核苷酸多态性（tagSNP）的基因分型。计算基因型和等位基因频率、比值比（OR）及95%置信区间（95%CI）。

结果

4个单核苷酸多态性，包括基因中rs6203的C等位基因（p = 0.034，OR[95%CI]=1.344[1.022 - 1.767]）、基因中rs3740397的G等位基因（p = 0.044，OR[95%CI]=1.314[1.007 - 1.714]）和rs10786712的C等位基因（p = 0.039，OR[95%CI]=0.751[0.572 - 0.986]），以及基因中rs6402的T等位基因（p = 0.006，OR[95%CI]=0.504[0.306 - 0.830]），均与HAPE显著相关。这些单核苷酸多态性的基因型分布在HAPE-p组和HAPE-r组之间也有显著差异。此外，基因的6个单倍型（包括rs10883783、rs4919686、rs3740397、rs3824755和rs10786712的连锁不平衡块）也与HAPE显著相关。