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NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese

BACKGROUND: High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic edema which occurs in unacclimatized individuals after rapid ascent to high altitude. NR3C1 gene encodes for glucocorticoid receptor (GR) which plays an important role in stress and inflammation. This stud...

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Autores principales: Yang, Yingzhong, Du, Hui, Li, Yuhong, Guan, Wei, Tang, Feng, Ga, Qin, Ge, Ri-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472084/
https://www.ncbi.nlm.nih.gov/pubmed/30999951
http://dx.doi.org/10.1186/s40101-019-0194-1
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author Yang, Yingzhong
Du, Hui
Li, Yuhong
Guan, Wei
Tang, Feng
Ga, Qin
Ge, Ri-Li
author_facet Yang, Yingzhong
Du, Hui
Li, Yuhong
Guan, Wei
Tang, Feng
Ga, Qin
Ge, Ri-Li
author_sort Yang, Yingzhong
collection PubMed
description BACKGROUND: High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic edema which occurs in unacclimatized individuals after rapid ascent to high altitude. NR3C1 gene encodes for glucocorticoid receptor (GR) which plays an important role in stress and inflammation. This study aimed to investigate the association of NR3C1 polymorphisms with the susceptibility to HAPE in Han Chinese. METHODS: The 30 SNPs in the NR3C1 gene were genotyped by the Sequenom MassARRAY SNP assay in 133 HAPE patients (HAPE-p) and 135 matched Han Chinese resistant to HAPE (HAPE-r). The genotypic and allele frequencies, odds ratios (ORs), and 95% confidence intervals (95% CIs) were calculated, respectively. RESULTS: The 12 SNPs showed a significant difference between the HAPE-p and HAPE-r groups. In allelic model analysis, we found that the allele “A” of rs17287745, rs17209237, rs17209251, rs6877893, and rs1866388; the allele “C” of rs6191, rs6188, and rs2918417; the allele “T” of rs33388 and rs4634384; and the allele “G” of rs41423247 and rs10052957 were associated with increased the risk of HAPE. In the genetic model analysis, we found that rs17287745, rs6191, rs6188, rs33388, rs2918417, rs6877893, rs1866388, rs41423247, rs4634384, and rs10052957 were relevant to the increased HAPE risk under the dominant model. In addition, the haplotype AACACTCAAGTG of the 12 SNPs was detected to be significantly associated with HAPE risk (OR = 2.044, 95%CI = 1.339~3.120, P = 0.0008), while the haplotype GGAGCACGACCG was associated with the decreased risk of HAPE (OR = 0.573, 95% CI = 0.333~0.985, P = 0.0422). CONCLUSIONS: Our findings provide new evidence for the association between SNPs in NR3C1 and an increased risk of HAPE in the Chinese population. NR3C1 polymorphisms are associated with the susceptibility to HAPE in Han Chinese. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s40101-019-0194-1) contains supplementary material, which is available to authorized users.
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spelling pubmed-64720842019-04-24 NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese Yang, Yingzhong Du, Hui Li, Yuhong Guan, Wei Tang, Feng Ga, Qin Ge, Ri-Li J Physiol Anthropol Original Article BACKGROUND: High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic edema which occurs in unacclimatized individuals after rapid ascent to high altitude. NR3C1 gene encodes for glucocorticoid receptor (GR) which plays an important role in stress and inflammation. This study aimed to investigate the association of NR3C1 polymorphisms with the susceptibility to HAPE in Han Chinese. METHODS: The 30 SNPs in the NR3C1 gene were genotyped by the Sequenom MassARRAY SNP assay in 133 HAPE patients (HAPE-p) and 135 matched Han Chinese resistant to HAPE (HAPE-r). The genotypic and allele frequencies, odds ratios (ORs), and 95% confidence intervals (95% CIs) were calculated, respectively. RESULTS: The 12 SNPs showed a significant difference between the HAPE-p and HAPE-r groups. In allelic model analysis, we found that the allele “A” of rs17287745, rs17209237, rs17209251, rs6877893, and rs1866388; the allele “C” of rs6191, rs6188, and rs2918417; the allele “T” of rs33388 and rs4634384; and the allele “G” of rs41423247 and rs10052957 were associated with increased the risk of HAPE. In the genetic model analysis, we found that rs17287745, rs6191, rs6188, rs33388, rs2918417, rs6877893, rs1866388, rs41423247, rs4634384, and rs10052957 were relevant to the increased HAPE risk under the dominant model. In addition, the haplotype AACACTCAAGTG of the 12 SNPs was detected to be significantly associated with HAPE risk (OR = 2.044, 95%CI = 1.339~3.120, P = 0.0008), while the haplotype GGAGCACGACCG was associated with the decreased risk of HAPE (OR = 0.573, 95% CI = 0.333~0.985, P = 0.0422). CONCLUSIONS: Our findings provide new evidence for the association between SNPs in NR3C1 and an increased risk of HAPE in the Chinese population. NR3C1 polymorphisms are associated with the susceptibility to HAPE in Han Chinese. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s40101-019-0194-1) contains supplementary material, which is available to authorized users. BioMed Central 2019-04-18 /pmc/articles/PMC6472084/ /pubmed/30999951 http://dx.doi.org/10.1186/s40101-019-0194-1 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Original Article
Yang, Yingzhong
Du, Hui
Li, Yuhong
Guan, Wei
Tang, Feng
Ga, Qin
Ge, Ri-Li
NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
title NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
title_full NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
title_fullStr NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
title_full_unstemmed NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
title_short NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese
title_sort nr3c1 gene polymorphisms are associated with high-altitude pulmonary edema in han chinese
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472084/
https://www.ncbi.nlm.nih.gov/pubmed/30999951
http://dx.doi.org/10.1186/s40101-019-0194-1
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